Journal articles: 'Gene-fetal sex interaction'

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Keverne, Eric B. "Genomic imprinting, action, and interaction of maternal and fetal genomes." Proceedings of the National Academy of Sciences 112, no. 22 (November 17, 2014): 6834–40. http://dx.doi.org/10.1073/pnas.1411253111.

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Mammalian viviparity (intrauterine development of the fetus) introduced a new dimension to brain development, with the fetal hypothalamus and fetal placenta developing at a time when the fetal placenta engages hypothalamic structures of the maternal generation. Such transgenerational interactions provide a basis for ensuring optimal maternalism in the next generation. This success has depended on genomic imprinting and a biased role of the matriline. Maternal methylation imprints determine parent of origin expression of genes fundamental to both placental and hypothalamic development. The matriline takes a further leading role for transgenerational reprogramming of these imprints. Developmental errors are minimized by the tight control that imprinted genes have on regulation of downstream evolutionary expanded gene families important for placental and hypothalamic development. Imprinted genes themselves have undergone purifying selection, providing a framework of stability for in utero development with most growth variance occurring postnatally. Mothers, not fathers, take the lead in the endocrinological and behavior adaptations that nurture, feed, and protect the infant. In utero coadaptive development of the placenta and hypothalamus has thus required a concomitant development to ensure male masculinization. Only placental male mammals evolved the sex determining SRY, which activates Sox9 for testes formation. SRY is a hybrid gene of Dgcr8 expressed in the developing placenta and Sox3 expressed in hypothalamic development. This hybridization of genes that take their origin from the placenta and hypothalamus has enabled critical in utero timing for the development of fetal Leydig cells, and hence testosterone production for hypothalamic masculinization.

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SenthamaraiKannan, Paranthaman, Maureen A. Sartor, Kyle T. O'Connor, Jonathan C. Neumann, James P. Klyza, Paul A. Succop, Brad D. Wagner, Saikumar Karyala, Mario Medvedovic, and Anil G. Menon. "Identification of maternally regulated fetal gene networks in the placenta with a novel embryo transfer system in mice." Physiological Genomics 43, no. 7 (April 2011): 317–24. http://dx.doi.org/10.1152/physiolgenomics.00078.2010.

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The mechanisms for provisioning maternal resources to offspring in placental mammals involve complex interactions between maternally regulated and fetally regulated gene networks in the placenta, a tissue that is derived from the zygote and therefore of fetal origin. Here we describe a novel use of an embryo transfer system in mice to identify gene networks in the placenta that are regulated by the mother. Mouse embryos from the same strain of inbred mice were transferred into a surrogate mother either of the same strain or from a different strain, allowing maternal and fetal effects on the placenta to be separated. After correction for sex and litter size, maternal strain overrode fetal strain as the key determinant of fetal weight ( P < 0.0001). Computational filtering of the placental transcriptome revealed a group of 81 genes whose expression was solely dependent on the maternal strain [ P < 0.05, false discovery rate (FDR) < 0.10]. Network analysis of this group of genes yielded highest statistical significance for pathways involved in the regulation of cell growth (such as insulin-like growth factors) as well as those involved in regulating lipid metabolism [such as the low-density lipoprotein receptor-related protein 1 (LRP1), LDL, and HDL], both of which are known to play a role in fetal development. This novel technique may be generally applied to identify regulatory networks involved in maternal-fetal interaction and eventually help identify molecular targets in disorders of fetal growth.

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Zafeiri, Aikaterini, and Paul A. Fowler. "Expression Patterns of Analgesic Metabolising Machinery in 1st and 2nd Trimester Human Fetal Liver and Gonads." Journal of the Endocrine Society 5, Supplement_1 (May 1, 2021): A488. http://dx.doi.org/10.1210/jendso/bvab048.998.

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Abstract Use of over-the-counter analgesics during pregnancy is widespread globally. Most analgesic compounds can freely diffuse through the placental feto-maternal interface and reach the developing fetus. Current literature suggests an endocrine disruptor (ED) potential of in utero exposure to these compounds. The liver is the primary site of contact with EDs in the fetus. Exposure of the fetal gonads can also alter reproductive function with potential intergenerational effects. We aimed to characterise the metabolic capability of these fetal organs. RNA sequencing was performed in 80 second trimester human fetal livers and 48 fetal gonads (balanced for fetal age and fetal sex). Samples were collected from elective terminations of normal pregnancies (liver 11-19 weeks, FeGo study: REC 04/S0802/21, and gonads 6-17 weeks, as previously described1. RNA was extracted and Illumina NextSeq was used to produce 76 bp single end (liver) or paired end 2x50 bp (gonads) sequencing reads. Reads were quality controlled, aligned to the human reference genome and quantified at gene regions. Statistical analyses involved an ANOVA model of two-way interactions between fetal sex and fetal age. All organs expressed phase I and II metabolising enzymes and drug transporters involved in the pharmacokinetic and pharmacodynamic pathways of over-the-counter analgesics. The human fetal liver expressed ABCC2, ABCC3, ABCC4 and ABCG2 receptors at similar levels between males and females. Expression of cytochrome p450 enzymes CYP2A6, CYP2C8, CYP2C9, CYP2E1, CYP3A4 involved in metabolism of the analgesics paracetamol and ibuprofen, all increased with gestational age in the liver. Expression of GSTM1, GSTP1, GSTT1, SULT1A1, SULT1A3, SULT1A4, SULT1E1, SULT2A1, UGT2B4, UGT2B7 and UGT2B15 metabolising enzymes also increased during gestation, while fetal hepatic GSTP1 expression showed a significant 2-way interaction between both sex and age. Fetal gonads expressed ABCC4 and ABCG2 transporters, with transcript levels demonstrating significant sex-specific and gestational age differences. Fewer analgesic metabolising enzymes were expressed in the gonads than the fetal liver, including CYP2E1, GSTP1 and SULT1A1, all significantly altered by gestation and fetal sex. Our results reveal expression of major analgesics metabolic and transport components within the human fetal liver, ovaries and testes between gestation weeks 7-19. Significant sex alterations in transcript levels also suggest sexually dimorphic metabolic activity of these organs during fetal life. In conclusion, analgesics can be transported into fetal liver and gonad cells and metabolised into bioactive forms, posing toxicity risks for the developing fetus.1. Lecluze E, Rolland AD, Filis P, et al. Dynamics of the transcriptional landscape during human fetal testis and ovary development. Hum Reprod. 2020;35(5):1099-1119.

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Jans, D. A., J. Ly-Huynh, G. Kaur, A. Efthymiadis, and K. L. Loveland. "246. Developmental switches in male sex determination and spermiogenesis; importin-chromatin remodeling factor interaction." Reproduction, Fertility and Development 20, no. 9 (2008): 46. http://dx.doi.org/10.1071/srb08abs246.

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Spermatogenesis, the complex process of generating haploid sperm capable of fertilising the female gamete, requires precisely scheduled transport into the nucleus of transcription factors and chromatin remodelling factors to implement changes in nuclear gene expression, as well as genome compaction during sperm formation (spermiogenesis). This transport is mediated by members of the importin (IMP) superfamily, which display distinct expression patterns in the rodent testis, consistent with the idea that they may carry specific cargo(es) at discrete stages of testis development. A key cargo during fetal testis development is the sex determining chromatin remodelling factor SRY, whose role in the nucleus in modulating the expression of male-specific genes such as SOX9 is critically dependent on the efficiency of its nuclear import by the specific transporter IMPbeta1; specific mutations in SRY that reduce binding by IMPbeta1 result in XY female Swyer syndrome individuals. A second cargo of significance is Cdyl (Chromodomain Y chromosome-like), involved in the histone H4 hyperacetylation which precedes the replacement of histones with protamines during spermiogenesis. We recently identified IMPalpha2, together with IMPbeta1, as Cdyl’s specific nuclear transporter. Using site-directed mutagenesis to perturb Cdyl recognition by IMPalpha2, IMP/Cdyl cotransfection approaches and quantitative confocal laser miscroscopic analysis, we established that the efficiency of Cdyl nuclear import is critical to its function in facilitating histone H4 acetylation, supporting the idea that one of the specific roles of IMPalpha2 is to localise Cdyl in the nucleus of elongating spermatids. Our findings are consistent with precisely scheduled, efficient IMP-mediated nuclear import of key chromatin remodelling factors being critical to testis development, reflecting an emerging paradigm for developmental processes in general.

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Ma, Y., L. Chai, SC Cortez, EG Stopa, MM Steinhoff, D. Ford, J. Morgan, and AL Maizel. "SALL1 expression in the human pituitary-adrenal/gonadal axis." Journal of Endocrinology 173, no. 3 (June 1, 2002): 437–48. http://dx.doi.org/10.1677/joe.0.1730437.

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SALL1 was originally identified on the basis of its DNA sequence homology to the region-specific homeotic gene Sal, in Drosophila melanogaster, which acts as a downstream target of hedgehog/tumor growth factor-beta-like decapentaplegic signals. The SALL1 gene has been associated with the Townes-Brocks Syndrome (TBS), a disorder characterized by multiorgan dysgenesis including renal and genital malformations. In this study, SALL1 message production was evaluated in association with the tissue localization of the protein product of SALL1, p140. SALL1 protein expression was observed in various adult and fetal tissues which elaborate reproductive endocrine hormones. The p140 was localized in specific microanatomic sites of the pituitary, adrenal cortex and the placenta. In the human pituitary, SALL1 protein expression was limited to the adenohypophysis, where it colocalized to those cells producing GH and the gonadotropins, LH and FSH. SALL1 expression was also found in most of the fetal and adult adrenal cortex in addition to the trophoblastic cells of the placenta. This pattern of expression complements prior studies demonstrating p140 in testicular fetal Leydig cells, adult Leydig and Sertoli cells, and granulosa cells of the ovary. The SALL1 protein was also shown here to be highly expressed in trophoblast tumors, which overproduce sex hormones. The expression patterns of SALL1 at multiple levels of the reproductive endocrine axis and the phenotypic effects associated with TBS suggest that SALL1 may have an important role in the interaction of the pituitary-adrenal/gonadal axis during reproduction.

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Tremblay, Jacques J., and Robert S. Viger. "Transcription Factor GATA-4 Enhances Müllerian Inhibiting Substance Gene Transcription through a Direct Interaction with the Nuclear Receptor SF-1." Molecular Endocrinology 13, no. 8 (August 1, 1999): 1388–401. http://dx.doi.org/10.1210/mend.13.8.0330.

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Abstract Secretion of Müllerian-inhibiting substance (MIS) by Sertoli cells of the fetal testis and subsequent regression of the Müllerian ducts in the male embryo is a crucial event that contributes to proper sex differentiation. The zinc finger transcription factor GATA-4 and nuclear receptor SF-1 are early markers of Sertoli cells that have been shown to regulate MIS transcription. The fact that the GATA and SF-1 binding sites are adjacent to one another in the MIS promoter raised the possibility that both factors might transcriptionally cooperate to regulate MIS expression. Indeed, coexpression of both factors resulted in a strong synergistic activation of the MIS promoter. GATA-4/SF-1 synergism was the result of a direct protein-protein interaction mediated through the zinc finger region of GATA-4. Remarkably, synergy between GATA-4 and SF-1 on a variety of different SF-1 targets did not absolutely require GATA binding to DNA. Moreover, synergy with SF-1 was also observed with other GATA family members. Thus, these data not only provide a clearer understanding of the molecular mechanisms that control the sex-specific expression of the MIS gene but also reveal a potentially novel mechanism for the regulation of SF-1-dependent genes in tissues where SF-1 and GATA factors are coexpressed.

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Ferraz-de-Souza, Bruno, Franziska Martin, Delphine Mallet, Rebecca E. Hudson-Davies, Patricia Cogram, Lin Lin, Dianne Gerrelli, et al. "CBP/p300-Interacting Transactivator, with Glu/Asp-Rich C-Terminal Domain, 2, and Pre-B-Cell Leukemia Transcription Factor 1 in Human Adrenal Development and Disease." Journal of Clinical Endocrinology & Metabolism 94, no. 2 (February 1, 2009): 678–83. http://dx.doi.org/10.1210/jc.2008-1064.

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Abstract Context: Disorders of adrenal development result in significant morbidity and mortality. However, the molecular basis of human adrenal development, and many forms of disease, is still poorly understood. Objectives: We evaluated the role of two new candidate genes, CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2 (CITED2), and pre-B-cell leukemia transcription factor 1 (PBX1), in human adrenal development and disease. Design: CITED2 and PBX1 expression in early human fetal adrenal development was assessed using RT-PCR and in situ hybridization. The regulation of CITED2 and PBX1 by steroidogenic factor-1 (SF-1) and dosage-sensitive sex reversal, adrenal hypoplasia congenital, critical region on the X chromosome, gene-1 (DAX1) was evaluated in NCI-H295R human adrenocortical tumor cells by studying promoter regulation. Finally, mutational analysis of CITED2 and PBX1 was performed in patients with primary adrenal disorders. Results: CITED2 and PBX1 are expressed in the human fetal adrenal gland during early development. Both genes are activated by SF-1 in a dose-dependent manner in NCI-H295R cells, and, surprisingly, PBX1 is synergistically activated by SF-1 and DAX1. Mutational analysis failed to reveal significant coding sequence changes in individuals with primary adrenal disorders. Conclusions: CITED2 and PBX1 are likely to be important mediators of adrenal development and function in humans, but mutations in these genes are not common causes of adrenal failure in patients in whom a molecular diagnosis remains unknown. The positive interaction between DAX1 and SF-1 in regulating PBX1 may be an important mechanism in this process.

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Bronson, Stefanie L., and Tracy L. Bale. "Prenatal Stress-Induced Increases in Placental Inflammation and Offspring Hyperactivity Are Male-Specific and Ameliorated by Maternal Antiinflammatory Treatment." Endocrinology 155, no. 7 (July 1, 2014): 2635–46. http://dx.doi.org/10.1210/en.2014-1040.

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Adverse experiences during gestation such as maternal stress and infection are known risk factors for neurodevelopmental disorders, including schizophrenia, autism, and attention deficit/hyperactivity disorder. The mechanisms by which these distinct exposures may confer similar psychiatric vulnerability remain unclear, although likely involve pathways common to both stress and immune responses at the maternal-fetal interface. We hypothesized that maternal stress-induced activation of immune pathways within the placenta, the sex-specific maternal-fetal intermediary, may contribute to prenatal stress programming effects on the offspring. Therefore, we assessed for markers indicative of stress-induced placental inflammation, and examined the ability of maternal nonsteroidal antiinflammatory drug (NSAID) treatment to ameliorate placental effects and thereby rescue the stress-dysregulation phenotype observed in our established mouse model of early prenatal stress (EPS). As expected, placental gene expression analyses revealed increased levels of immune response genes, including the proinflammatory cytokines IL-6 and IL-1β, specifically in male placentas. NSAID treatment partially ameliorated these EPS effects. Similarly, in adult offspring, males displayed stress-induced locomotor hyperactivity, a hallmark of dopaminergic dysregulation, which was ameliorated by maternal NSAID treatment. Fitting with these outcomes and supportive of dopamine pathway involvement, expression of dopamine D1 and D2 receptors was altered by EPS in males. These studies support an important interaction between maternal stress and a proinflammatory state in the long-term programming effects of maternal stress.

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Cvitic, Silvija, Jasmin Strutz, Hannah M. Appel, Elisa Weiß, Waltraud T. Brandl, Andrea Thüringer, Eva M. Bernhart, et al. "Sexual dimorphism of miRNA signatures in feto-placental endothelial cells is associated with altered barrier function and actin organization." Clinical Science 134, no. 1 (January 2020): 39–51. http://dx.doi.org/10.1042/cs20190379.

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Abstract Endothelial function and the risk for endothelial dysfunction differ between males and females. Besides the action of estrogen, sex chromosome gene expression and programming effects also provoke this sexual dimorphism. MicroRNAs (miRNAs) have emerged as regulators of endothelial cell function and dysfunction. We here hypothesized distinct miRNA expression patterns in male versus female human endothelial cells that contribute to the functional differences. We used our well-established model of fetal endothelial cells isolated from placenta (fpEC) and analyzed sexual dimorphic miRNA expression and potentially affected biological functions. Next-generation miRNA sequencing of fpEC isolated after pregnancies with male and female neonates identified sex-dependent miRNA expression patterns. Potential biological pathways regulated by the altered set of miRNAs were determined using mirPath and mirSystem softwares, and suggested differences in barrier function and actin organization. The identified pathways were further investigated by monolayer impedance measurements (ECIS) and analysis of F-actin organization (Phalloidin). Nine miRNAs were differentially expressed in fpEC of male versus female neonates. Functional pathways most significantly regulated by these miRNAs included ‘Adherens junction’, ‘ECM receptor interaction’ and ‘Focal adhesion’. These pathways control monolayer barrier function and may be paralleled by altered cytoskeletal organization. In fact, monolayer impedance was higher in fpEC of male progeny, and F-actin staining revealed more pronounced peripheral stress fibers in male versus female fpEC. Our data highlight that endothelial cell function differs between males and females already in utero, and that altered miRNAs are associated with sex dependent differences in barrier function and actin organization.

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Lundin, K. B., Y. L. Giwercman, L. Rylander, L. Hagmar, and A. Giwercman. "Androgen receptor gene GGN repeat length and reproductive characteristics in young Swedish men." European Journal of Endocrinology 155, no. 2 (August 2006): 347–54. http://dx.doi.org/10.1530/eje.1.02204.

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Background: The human androgen receptor (AR) gene contains two polymorphisms of CAG and GGN repeats respectively. The GGN repeat function is still largely unknown and to date there are no in vivo data on this segment with respect to the general population. Methods: We investigated the impact of CAG and GGN repeats on male reproductive function, one by one and in interaction with each other, in 220 adolescent men from the general Swedish population. Physical examination and semen analysis, including accessory sex gland markers and measurement of reproductive hormone levels, were performed. Lifestyle-associated factors, including maternal smoking during pregnancy, were recorded. GGN and CAG repeat lengths were determined by sequencing. Results: GGN<23 was associated with lower semen volume when compared to GGN=23 (mean difference −0.6 ml, P=0.02) and GGN>23 (mean difference −0.9 ml, P=0.002). Men with GGN<23, exposed to maternal smoking during pregnancy, had higher body mass index compared to men with other GGN lengths, no matter whether their mother had smoked or not during pregnancy (mean difference 4.8 kg/m2, P<0.001). Conclusions: Short GGN repeats seem to be associated with decreased semen volume, possibly due to suboptimal AR activity. Body composition may be influenced by the combination of fetal exposure to maternal smoking and certain AR genotypes.

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Timofeev, Nadia, Jacqueline N. Milton, Stephen W. Hartley, Richard Sherva, Paola Sebastiani, Daniel A. Dworkis, Elizabeth S. Klings, et al. "Genome-Wide Studies in Sickle Cell Anemia Show Associations Between SNPs in the Olfactory Receptor Gene Cluster and Fetal Hemoglobin Concentration." Blood 114, no. 22 (November 20, 2009): 821. http://dx.doi.org/10.1182/blood.v114.22.821.821.

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Abstract Abstract 821 Fetal hemoglobin (HbF) is the major modulator of sickle cell anemia (SCA, homozygosity for HBB glu6val) severity. In a genome-wide association study in African Americans with SCA we sought to identify single nucleotide polymorphisms (SNPs) associated with HbF concentrations. A discovery sample of 848 African American subjects and a primary replication study of 305 subjects were examined. DNA was genotyped with the Illumina Human610-Quad SNP; some replication set samples were genotyped with the Sentrix HumanCNV370 or the 317K array. For quality control we excluded SNPs with a call rate less than 95%; we excluded subjects with a call rate less than 93%; identity by descent measurements were computed to identify related individuals who were removed from analysis; we inferred gender using chromosome X SNPs removing subjects with gender mismatches; a genome-wide principal components analysis found no association between the phenotype and the first 10 principal components, indicating that the results were not affected by population substructure. The association between HbF and the genotype for each SNP was tested with a multiple linear regression analysis adjusting for sex and assuming an additive model using the software PLINK. SCA is a rare disease in developed countries and assembling large data sets is not feasible. Therefore, true associations with limited effect sizes might not reach “genome-wide” significance of 10-08. To identify genes enriched with moderately strong associations, we developed a SNP set enrichment analysis (SSEA) that computes the probability that a set of SNPs is selected as significant by chance and scores each gene by this probability. Two SNPs exceeded the strict genome-wide significance: SNP rs5006884 in a novel region on chromosome 11 upstream of the β-globin gene cluster locus control region (LCR) containing the olfactory receptor (OR) genes OR51B5 and OR51B6; SNP rs766432 in BCL11A, previously found to be associated with HbF in several different populations. Data for SNPs common to the discovery and replication sets were combined and analyzed jointly. Similarity of the regression beta coefficients across datasets and increased significance of the p-values compared with those observed in the analyses of individual datasets provide additional evidence that the associations were consistent in the both datasets. The Q-Q plot and a genomic inflation factor of 1.003 both suggest that the test statistics are not inflated and are distributed appropriately. SSEA identified 2 OR genes (OR51B5, OR51B6) and BCL11A as enriched in both the discovery and replication sets. The most significant SNP in the OR region (rs5006884) and BCL11A (rs766432) explained 15.6% of the variability in HbF. Also, in the interval Xp 22.2-22.3 we found moderate, but not “genome-wide” significance for 1 SNP in Xp22.2. Phylogenetic conservation of some OR genes and their flanking sequences suggests that this region might also have a role in controlling expression within the β-globin gene-like complex. Low linkage disequilibrium between SNPs in the β-globin locus and the OR genes suggests that one or more variants in the OR genes independently regulate HbF. The top SNP in the OR51B5/OR51B6 locus, rs5006884, was still associated with HbF (p = 1.5E-05) in a model adjusting both for sex and rs2071348, a SNP in tight LD with the HBG2 5' -158 C-T SNP, giving further evidence that the OR region provides important information in addition to the SNPs in the β-globin gene-like complex. Polymorphisms in the upstream OR region might conceivably modulate HbF levels by altering chromatin structure within the β-globin gene cluster. Conserved binding sites for the transcription factor CTCF flank the β-globin gene cluster and evidence suggests that these sites function as insulators. Polymorphisms in this region might affect the actions of enhancers, possibly through their effects on CTCF binding its receptors, thereby affecting the interaction of the globin genes with enhancers in the OR regions. Disclosures: No relevant conflicts of interest to declare.

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Kaur, G., A. Delluc-Clavieres, I. Poon, and D. A. Jans. "275.Calmodulin-dependent nuclear import pathway of the testis-determining factor SRY." Reproduction, Fertility and Development 16, no. 9 (2004): 275. http://dx.doi.org/10.1071/srb04abs275.

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Modulation of the nuclear entry of transcription factors (TFs) and chromatin components is a means by which eukaryotic cells can regulate gene expression in response to extracellular signals and the cell cycle during differentiation and development. TFs and chromatin components access the nucleus through nuclear localisation sequences (NLSs), which mediate interaction with components of the cellular nuclear import machinery, such as members of the importin superfamily. The Ca2+-binding protein calmodulin (CaM ) has previously been shown to bind at or near NLSs in several nuclear-localising proteins that have important roles in testis development including the Y chromosome-encoded HMG-domain-carrying chromatin remodelling factor SRY, and related factor SOX9, both of which are key regulators of gonadal development. SRY function in the nucleus of somatic cells of the fetal gonad, in particular, is essential for development of a testis in males. Here we present new findings implicating a role for CaM in modulating SRY nuclear accumulation, whereby treatment of transfected cells with CaM antagonists significantly reduces nuclear accumulation of green fluorescent protein (GFP)-fusion proteins encoding either full length SRY or the SRY HMG domain alone. An in vitro nuclear transport assay using bacterially expressed fluorescent proteins showed similar results, with native gel electrophoresis/fluorimaging and fluorescence polarisation assays, indicating direct binding of CaM to the SRY HMG domain in Ca2+-dependent fashion. Since clinical mutations resulting in sex reversal occur within SRY's CaM-binding NLS, these results may shed new insight into CaM-dependent pathways of nuclear protein import, and how this may relate to testis development.

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Bae, Harold T., Paola Sebastiani, Victor R. Gordeuk, Yingze Zhang, Martin H. Steinberg, and Gregory J. Kato. "Association of FOXO3A Polymorphisms with Hematocrit, LDH and Longevity in Patients with Sickle Cell Anemia from CSSCD, Walk-Phasst, and PUSH Clinical Trials." Blood 126, no. 23 (December 3, 2015): 2176. http://dx.doi.org/10.1182/blood.v126.23.2176.2176.

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Abstract Background The FOXO3A genotype is strongly associated with longevity in humans. It encodes a transcription factor that appears to regulate anti-oxidant genes during erythroid differentiation in mice, resulting in a hemolytic anemia. The gene has also been implicated in the regulation of fetal hemoglobin expression in children with sickle cell disease. We performed a gene-wide association study to identify and replicate variants of FOXO3A that might be associated with seven biomarkers in patients with sickle cell anemia. Methods 1198 patients from the Cooperative Study of Sickle Cell Disease (CSSCD) study, 308 patients from the Pulmonary Hypertension and Sickle Cell Disease with Sildenafil Therapy (walk-PHaSST) study, and 220 patients from the Pulmonary Hypertension and the Hypoxic Response in Sickle Cell Disease (PUSH) study were analyzed. Biomarkers included hematocrit, reticulocyte count, fetal hemoglobin (HbF), serum levels of lactate dehydrogenase (LDH), aspartate aminotransferase and bilirubin, and the calculated hemolytic component, each appropriately transformed to achieve normality. A total of 189 single nucleotide polymorphisms (SNP) that were either genotyped or imputed (quality r2 > 0.9) were used. Association between each biomarker and SNP was tested using linear regression assuming an additive genetic model, adjusted for age and sex. None of the patients in the CSSCD were treated with hydroxyurea at the time of measurements of the biomarker variables. In the Walk-PHaSST and PUSH, we first examined whether there was a significant association between the biomarker and treatment effect of hydroxyurea; if there was a significant treatment effect, then we looked at potential SNP-by-treatment interaction. For those with significant interactions, only patients without hydroxyurea treatment were included in the analysis. The genetic analysis results from the three studies were then combined to produce meta-analyzed results. Finally, a survival analysis using Cox regression was performed to model age at death in a subset of 54 patients in the CSSCD. Results Among the seven biomarkers, hematocrit showed the most robust enrichment of associations with FOXO3A SNPs. Eight of the 16 published variants had meta-analyzed p-value <0.05. Of those, six had a consistent direction of effects across all three cohorts. Overall, there were 8 loci with 34 SNPs that had meta-analyzed p<0.05 in hematocrit. The most significantly associated SNP (rs6911407; meta-analyzed Beta=-0.0127, meta-analyzed p=0.0013) is one previously associated with human longevity. LDH was most significantly associated with variant rs12206094 (meta-analyzed Beta=0.0256, meta-analyzed p=0.0072), another SNP previously associated with human longevity. Four of the allelic variants associated with LDH were also associated with hematocrit in the appropriate direction. There were also some evidence of enrichment of associations with reticulocyte counts (2 loci with 22 SNPs), HbF (1 locus with 11 SNPs; 10 SNP associations overlapped with reticulocyte count in the appropriate direction), and hemolytic component (2 loci with 8 SNPs); however, the strengths of associations in these biomarkers were marginal (0.01<p<0.05). The survival analysis revealed one locus significantly associated with age at death in the CSSCD patients (rs2802297; p=0.028). Conclusion FOXO3A genetic polymorphisms are associated with hematocrit and serum LDH in this meta-analysis of patients with sickle cell anemia, with less robust associations with fetal hemoglobin level and reticulocyte count. Our genetic findings are biologically consistent with published knockout mouse data indicating that FOXO3A regulates red cell antioxidant capacity and hemolytic severity. Our observation of fetal hemoglobin association with FOXO3A helps to validate previously presented results from Sheehan and colleagues. Parallel to well-documented results in the general population, we find preliminarily that a FOXO3A allelic variant predicts longevity in patients with sickle cell anemia. FOXO3A appears to play a significant role in phenotypic variation in sickle cell anemia. Disclosures No relevant conflicts of interest to declare.

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Varì, Rosaria, Beatrice Scazzocchio, Tiziana Filardi, Anna Citarella, Maria Bellenghi, Roberta Masella, and Carmela Santangelo. "Significance of Sex Differences in ncRNAs Expression and Function in Pregnancy and Related Complications." Biomedicines 9, no. 11 (October 20, 2021): 1509. http://dx.doi.org/10.3390/biomedicines9111509.

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In the era of personalized medicine, fetal sex-specific research is of utmost importance for comprehending the mechanisms governing pregnancy and pregnancy-related complications. In recent times, noncoding RNAs (ncRNAs) have gained increasing attention as critical players in gene regulation and disease pathogenesis, and as candidate biomarkers in human diseases as well. Different types of ncRNAs, including microRNAs (miRNAs), piwi-interacting RNAs (piRNAs), long noncoding RNAs (lncRNAs), and circular RNAs (circRNAs), participate in every step of pregnancy progression, although studies taking into consideration fetal sex as a central variable are still limited. To date, most of the available data have been obtained investigating sex-specific placental miRNA expression. Several studies revealed that miRNAs regulate the (patho)-physiological processes in a sexually dimorphic manner, ensuring normal fetal development, successful pregnancy, and susceptibility to diseases. Moreover, the observation that ncRNA profiles differ according to cells, tissues, and developmental stages of pregnancy, along with the complex interactions among different types of ncRNAs in regulating gene expression, strongly indicates that more studies are needed to understand the role of sex-specific ncRNA in pregnancy and associated disorders.

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Borengasser, Sarah, Jessica Murphy, Megan Null, Purevsuren Jambal, Kenneth Jones, Ivana Yang, Jacob Friedman, et al. "Role of a Preconception Maternal Nutrition Supplement and Pre-pregnancy BMI on Amnion DNA Methylation at Birth in Guatemalan Mother-Infant Dyads: The Women First Trial." Current Developments in Nutrition 6, Supplement_1 (June 2022): 625. http://dx.doi.org/10.1093/cdn/nzac061.009.

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Abstract Objectives Maternal nutrition can alter the offspring epigenome at birth. We sought to examine epigenome-wide DNA methylation (DNAme) from a subset of Guatemalan mother-infant dyads from the Women First Preconception Maternal Nutrition Trial (WF). Women were randomized to either: Arm 1) women consumed a daily maternal nutrition supplement (MNS) ≥ 3 months prior to conception until delivery; Arm 2) women consumed the same MNS starting at 12 weeks gestation until delivery; or Arm 3) no MNS. We tested if infant DNAme from amnion tissue at birth (N = 99) was associated with: 1) timing of exposure to maternal MNS; 2) pre-pregnancy body mass index (ppBMI); and 3) the interaction of maternal MNS and ppBMI. Methods Bisulfite-converted DNAme libraries were constructed using Roche NimbleGen SeqCap Epi CpGiant probes and were sequenced via 2 × 150 paired end reads. We assessed the relationship between Arm, ppBMI, and Arm x ppBMI interaction on CpG methylation. All statistical models adjusted for multiple testing using false discovery rate (FDR) and controlled for maternal age, infant sex, exposure to smoke, infant genetics, and cellular heterogeneity. Gene set enrichment analyses were performed via Enrichr. Results We identified 480 CpGs associated with Arm, 4 CpGs associated with ppBMI, and 22 CpGs associated with the interaction of Arm x ppBMI (FDR < 0.05). Further, we found that DNAme was changed between Arms (1 vs 2, 1 vs 3). There were 300 CpGs that were different between Arms 1 and 2 and 159 CpGs that were different between Arms 1 and 3 that annotated to genes and passed FDR < 0.05. These results suggest preconception consumption of maternal MNS elicits different epigenetic responses as compared to MNS commencing during gestation or not at all. In addition, CpGs that annotated to genes were enriched in pathways associated with growth, development, and metabolism that included circadian rhythm, TCA cycle, Wnt signaling, and melatonin metabolism. Conclusions Our findings indicate that maternal MNS was robustly associated with amnion DNAme at birth. More specifically, preconception MNS resulted in DNAme changes that differed from the other Arms in biologically relevant pathways suggesting timing of maternal nutrition impacts the fetal epigenome. Future studies will examine DNAme associated with birth outcomes. Funding Sources Bill & Melinda Gates Foundation and NIH NICHD/ODS.

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Steinberg, Martin H., Qianli Ma, Abdullah Kutlar, Lindsay A. Farrer, and Clinton T. Baldwin. "Fetal Hemoglobin in Sickle Cell Anemia: Associations with Single Nucleotide Polymorphisms in Quantitative Trait Loci on Chromsomes 8q12 and Xp22." Blood 108, no. 11 (November 16, 2006): 1222. http://dx.doi.org/10.1182/blood.v108.11.1222.1222.

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Abstract Fetal hemoglobin (HbF) inhibits the polymerization of sickle hemoglobin modulating some of the subphenotypes of sickle cell anemia. HbF concentrations vary considerably among patients and this variation is regulated as a multigenic trait; some regulatory regions previously identified are linked to the β-globin gene-like cluster and are also within quantitative trait loci (QTL) on chromosomes 6q, 8q and Xp. We genotyped panels of haplotype tagging (ht)SNPs in the β-globin gene-like cluster and covering the 8q and Xp QTL in two independent patient samples and applied two independent analytical methods to study their association with HbF levels. The first sample included 327 patients (135 htSNPs) and the second sample had 987 patients (102 htSNPs). Genotyping was done using a custom 384 multiplex design and the Illumina platform. Single SNP association was investigated by multiple linear regression analysis with simultaneous adjustment for age, sex and the co-existence of α thalassemia; we performed a permutation procedure to correct for multiple testing. The nonlinear regression Random Forest method was used for a joint analysis of covariates and all SNPs. In the smaller patient sample, 7 SNPs in TOX (thymus high mobility protein; 8q12.1) gene showed significant association with HbF (p-value <0.05), but none passed the multiple test correction. Another 11 SNPs in TOX also showed significant association in the larger patient sample and SNP rs7817609 passed the multiple test correction. This SNP in TOX was significantly associated with HbF under codominant and dominant models (empirical p-values 0.0154 and 0.0067) with the C allele associated with a high level of HbF expression; the level of HbF in subjects with CC and CG genotypes was on average 25 percent higher than that in subjects with GG genotype. Three SNPs, including the Xmn I, −158 C T SNP 5′ to HBG2 within the β-globin gene-like cluster, also showed association with HbF. This SNP was the 2nd most important SNP in predicting HbF expression using Random Forest analysis indicating that it might interact non-linearly with other regulatory factors. Joint analysis of all SNPs and covariates revealed that the most important variables for predicting HbF matched most of the SNPs identified by single SNP association studies in both data sets. Random Forest analysis also identified SNPs in EGFL6, GPM6B and FIGF that have a strong effect on predicting HbF level and that lie within the Xp22.2–p22.3 QTL. This suggests that genes within the Xp QTL might be involved in interaction with other genes to regulate the expression of HbF. TOX belongs to one of the high mobility group (HMG) box protein families, which contains proteins with a single HMG box that bind with high sequence specificity to variants of the DNA sequence (A/T)(A/T)CAAAG, inducing a sharp bend in DNA, altering local chromatin structure and modulating the formation of multi-protein regulatory complexes. Within 50 kb 5′ and 40 kb 3′ to the HBG2 there were 50 matches to this binding sequence. TOX might bind to the β-globin gene cluster forming multi-protein regulatory complexes with other proteins to regulate the expression of HbF. We have identified new candidate genes, or linkage disequilibrium with candidate genes, that might play a role in HbF regulation, but further genetic and biological studies are required for validation.

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Albrecht, Kenneth H., Maureen Young, Linda L. Washburn, and Eva M. Eicher. "Sry Expression Level and Protein Isoform Differences Play a Role in Abnormal Testis Development in C57BL/6J Mice Carrying Certain Sry Alleles." Genetics 164, no. 1 (May 1, 2003): 277–88. http://dx.doi.org/10.1093/genetics/164.1.277.

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Abstract Transfer of certain Mus domesticus-derived Y chromosomes (SryDOM alleles, e.g., SryPOS and SryAKR) onto the C57BL/6J (B6) mouse strain causes abnormal gonad development due to an aberrant interaction between the SryDOM allele and the B6-derived autosomal (tda) genes. For example, B6 XYPOS fetuses develop ovaries and ovotestes and B6 XYAKR fetuses have delayed testis cord development. To test whether abnormal testis development is caused by insufficient SryDOM expression, two approaches were used. First, gonad development and relative Sry expression levels were examined in fetal gonads from two strains of B6 mice that contained a single M. domesticus-derived and a single M. musculus-derived Sry allele (B6-YPOS,RIII and B6-YAKR,RIII). In both cases, presence of the M. musculus SryRIII allele corrected abnormal testis development. On the B6 background, SryPOS was expressed at about half the level of SryRIII whereas SryAKR and SryRIII were equally expressed. On an F1 hybrid background, both SryPOS and SryRIII expression increased, but SryPOS expression increased to a greater extent. Second, sexual development and Sry expression levels were determined in XX mice carrying a transgene expressing SryPOS controlled by POS-derived or MUS-derived regulatory regions. In both cases one B6 transgenic line was recovered in which XX transgenic mice developed only testicular tissue but cord development was delayed despite normal Sry transcriptional initiation and overexpression. For three transgenes where B6 XX transgenic mice developed as females, hermaphrodites, or males, the percentage of XX transgenic males increased on an F1 background. For the one transgene examined, Sry expression increased on an F1 background. These results support a model in which delayed testis development is caused by the presence of particular DOM SRY protein isoforms and this, combined with insufficient Sry expression, causes sex reversal. These results also indicate that at least one tda gene regulates Sry expression, possibly by directly binding to Sry regulatory regions.

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Wilhelm, Dagmar, Stephen Palmer, and Peter Koopman. "Sex Determination and Gonadal Development in Mammals." Physiological Reviews 87, no. 1 (January 2007): 1–28. http://dx.doi.org/10.1152/physrev.00009.2006.

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Arguably the most defining moment in our lives is fertilization, the point at which we inherit either an X or a Y chromosome from our father. The profoundly different journeys of male and female life are thus decided by a genetic coin toss. These differences begin to unfold during fetal development, when the Y-chromosomal Sry (“sex-determining region Y”) gene is activated in males and acts as a switch that diverts the fate of the undifferentiated gonadal primordia, the genital ridges, towards testis development. This sex-determining event sets in train a cascade of morphological changes, gene regulation, and molecular interactions that directs the differentiation of male characteristics. If this does not occur, alternative molecular cascades and cellular events drive the genital ridges toward ovary development. Once testis or ovary differentiation has occurred, our sexual fate is further sealed through the action of sex-specific gonadal hormones. We review here the molecular and cellular events (differentiation, migration, proliferation, and communication) that distinguish testis and ovary during fetal development, and the changes in gene regulation that underpin these two alternate pathways. The growing body of knowledge relating to testis development, and the beginnings of a picture of ovary development, together illustrate the complex mechanisms by which these organ systems develop, inform the etiology, diagnosis, and management of disorders of sexual development, and help define what it is to be male or female.

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Sun, Tianyanxin, Tania L. Gonzalez, Nan Deng, Rosemarie DiPentino, Ekaterina L. Clark, Bora Lee, Jie Tang, et al. "Sexually Dimorphic Crosstalk at the Maternal-Fetal Interface." Journal of Clinical Endocrinology & Metabolism 105, no. 12 (August 9, 2020): e4831-e4847. http://dx.doi.org/10.1210/clinem/dgaa503.

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Abstract Context Crosstalk through receptor ligand interactions at the maternal-fetal interface is impacted by fetal sex. This affects placentation in the first trimester and differences in outcomes. Sexually dimorphic signaling at early stages of placentation are not defined. Objective Investigate the impact of fetal sex on maternal-fetal crosstalk. Design Receptors/ligands at the maternal-fetal surface were identified from sexually dimorphic genes between fetal sexes in the first trimester placenta and defined in each cell type using single-cell RNA-Sequencing (scRNA-Seq). Setting Academic institution. Samples Late first trimester (~10-13 weeks) placenta (fetal) and decidua (maternal) from uncomplicated ongoing pregnancies. Main outcome measures Transcriptomic profiling at tissue and single-cell level; immunohistochemistry of select proteins. Results We identified 91 sexually dimorphic receptor-ligand pairs across the maternal-fetal interface. We examined fetal sex differences in 5 major cell types (trophoblasts, stromal cells, Hofbauer cells, antigen-presenting cells, and endothelial cells). Ligands from the CC family chemokine ligand (CCL) family were most highly representative in females, with their receptors present on the maternal surface. Sexually dimorphic trophoblast transcripts, Mucin-15 (MUC15) and notum, palmitoleoyl-protein carboxylesterase (NOTUM) were also most highly expressed in syncytiotrophoblasts and extra-villous trophoblasts respectively. Gene Ontology (GO) analysis using sexually dimorphic genes in individual cell types identified cytokine mediated signaling pathways to be most representative in female trophoblasts. Upstream analysis demonstrated TGFB1 and estradiol to affect all cell types, but dihydrotestosterone, produced by the male fetus, was an upstream regulator most significant for the trophoblast population. Conclusions Maternal-fetal crosstalk exhibits sexual dimorphism during placentation early in gestation.

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Tisato, Veronica, Juliana A. Silva, Giovanna Longo, Ines Gallo, Ajay V. Singh, Daniela Milani, and Donato Gemmati. "Genetics and Epigenetics of One-Carbon Metabolism Pathway in Autism Spectrum Disorder: A Sex-Specific Brain Epigenome?" Genes 12, no. 5 (May 20, 2021): 782. http://dx.doi.org/10.3390/genes12050782.

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Autism spectrum disorder (ASD) is a complex neurodevelopmental condition affecting behavior and communication, presenting with extremely different clinical phenotypes and features. ASD etiology is composite and multifaceted with several causes and risk factors responsible for different individual disease pathophysiological processes and clinical phenotypes. From a genetic and epigenetic side, several candidate genes have been reported as potentially linked to ASD, which can be detected in about 10–25% of patients. Folate gene polymorphisms have been previously associated with other psychiatric and neurodegenerative diseases, mainly focused on gene variants in the DHFR gene (5q14.1; rs70991108, 19bp ins/del), MTHFR gene (1p36.22; rs1801133, C677T and rs1801131, A1298C), and CBS gene (21q22.3; rs876657421, 844ins68). Of note, their roles have been scarcely investigated from a sex/gender viewpoint, though ASD is characterized by a strong sex gap in onset-risk and progression. The aim of the present review is to point out the molecular mechanisms related to intracellular folate recycling affecting in turn remethylation and transsulfuration pathways having potential effects on ASD. Brain epigenome during fetal life necessarily reflects the sex-dependent different imprint of the genome-environment interactions which effects are difficult to decrypt. We here will focus on the DHFR, MTHFR and CBS gene-triad by dissecting their roles in a sex-oriented view, primarily to bring new perspectives in ASD epigenetics.

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Tamayo, Juan M., Destanie Rose, Jamie S. Church, Jared J. Schwartzer, and Paul Ashwood. "Maternal Allergic Asthma Induces Prenatal Neuroinflammation." Brain Sciences 12, no. 8 (August 5, 2022): 1041. http://dx.doi.org/10.3390/brainsci12081041.

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Autism spectrum disorder (ASD) is a class of neurodevelopmental disorders characterized by impaired social interactions and communication skills and repetitive or stereotyped behaviors. Rates of ASD diagnosis continue to rise, with current estimates at 1 in 44 children in the US (Maenner 2021). Epidemiological studies have suggested a link between maternal allergic asthma and an increased likelihood of having a child diagnosed with ASD. However, a lack of robust laboratory models prevents mechanistic research from being carried out. We developed a novel mouse model of maternal asthma-allergy (MAA) and previously reported that offspring from these mothers exhibit behavioral deficits compared to controls. In addition, it was shown that epigenetic regulation of gene expression in microglia was altered in these offspring, including several autism candidate genes. To further elucidate if there is neuroinflammation in the fetus following MAA, we investigated how allergic asthma impacts the maternal environment and inflammatory markers in the placenta and fetal brain during gestation. Female C57Bl/6 mice were primed with ovalbumin (OVA) prior to allergic asthma induction during pregnancy by administering aerosolized ovalbumin or PBS control to pregnant dams at gestational days (GD)9.5, 12.5, and 17.5. Four hours after the final induction, placenta and fetal brains were collected and measured for changes in cytokines using a Luminex bead-based multiplex assay. Placental MAA tissue showed a decrease in interleukin (IL)-17 in male and female offspring. There was a sex-dependent decrease in female monocyte chemoattractant protein 1 (MCP-1). In male placentas, IL-4, C–X–C motif chemokine 10 (CXCL10)—also known as interferon γ-induced protein 10 kDa (IP-10)—and chemokine (C-C motif) ligand 5 (RANTES) were decreased. In fetal brains, elevated inflammatory cytokines were found in MAA offspring when compared to controls. Specifically, interferon-gamma (IFN-γ), granulocyte-macrophage colony-stimulating factor (GM-CSF), interleukin 1α (IL-1α), IL-6, and tumor necrosis factor α (TNFα) were elevated in both males and females. In contrast, a decrease in the cytokine IL-9 was also observed. There were slight sex differences after OVA exposures. Male fetal brains showed elevated levels of macrophage inflammatory protein-2 (MIP-2), whereas female brains showed increased keratinocytes-derived chemokine (KC). In addition, IL-1𝛽 and IP-10 in male fetal brains were decreased. Together, these data indicate that repeated exposure to allergic asthma during pregnancy alters cytokine expression in the fetal environment in a sex-dependent way, resulting in homeostatic and neuroinflammatory alterations in the fetal brain.

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Lien, Yu-Chin, Zhe Zhang, Yi Cheng, Erzsebet Polyak, Laura Sillers, Marni J. Falk, Harry Ischiropoulos, Samuel Parry, and Rebecca A. Simmons. "Human Placental Transcriptome Reveals Critical Alterations in Inflammation and Energy Metabolism with Fetal Sex Differences in Spontaneous Preterm Birth." International Journal of Molecular Sciences 22, no. 15 (July 23, 2021): 7899. http://dx.doi.org/10.3390/ijms22157899.

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A well-functioning placenta is crucial for normal gestation and regulates the nutrient, gas, and waste exchanges between the maternal and fetal circulations and is an important endocrine organ producing hormones that regulate both the maternal and fetal physiologies during pregnancy. Placental insufficiency is implicated in spontaneous preterm birth (SPTB). We proposed that deficits in the capacity of the placenta to maintain bioenergetic and metabolic stability during pregnancy may ultimately result in SPTB. To explore our hypothesis, we performed a RNA-seq study in male and female placentas from women with SPTB (<36 weeks gestation) compared to normal pregnancies (≥38 weeks gestation) to assess the alterations in the gene expression profiles. We focused exclusively on Black women (cases and controls), who are at the highest risk of SPTB. Six hundred and seventy differentially expressed genes were identified in male SPTB placentas. Among them, 313 and 357 transcripts were increased and decreased, respectively. In contrast, only 61 differentially expressed genes were identified in female SPTB placenta. The ingenuity pathway analysis showed alterations in the genes and canonical pathways critical for regulating inflammation, oxidative stress, detoxification, mitochondrial function, energy metabolism, and the extracellular matrix. Many upstream regulators and master regulators important for nutrient-sensing and metabolism were also altered in SPTB placentas, including the PI3K complex, TGFB1/SMADs, SMARCA4, TP63, CDKN2A, BRCA1, and NFAT. The transcriptome was integrated with published human placental metabolome to assess the interactions of altered genes and metabolites. Collectively, significant and biologically relevant alterations in the transcriptome were identified in SPTB placentas with fetal sex disparities. Altered energy metabolism, mitochondrial function, inflammation, and detoxification may underly the mechanisms of placental dysfunction in SPTB.

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Kamhieh-Milz, Julian, Reham Fadl Hassan Moftah, Gürkan Bal, Matthias Futschik, Viktor Sterzer, Omid Khorramshahi, Martin Burow, et al. "Differentially Expressed MicroRNAs in Maternal Plasma for the Noninvasive Prenatal Diagnosis of Down Syndrome (Trisomy 21)." BioMed Research International 2014 (2014): 1–9. http://dx.doi.org/10.1155/2014/402475.

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Objectives. Most developmental processes are under the control of small regulatory RNAs called microRNAs (miRNAs). We hypothesize that different fetal developmental processes might be reflected by extracellular miRNAs in maternal plasma and may be utilized as biomarkers for the noninvasive prenatal diagnosis of chromosomal aneuploidies. In this proof-of-concept study, we report on the identification of extracellular miRNAs in maternal plasma of Down syndrome (DS) pregnancies.Methods. Using high-throughput quantitative PCR (HT-qPCR), 1043 miRNAs were investigated in maternal plasma via comparison of seven DS pregnancies with age and fetal sex matched controls.Results. Six hundred and ninety-five miRNAs were identified. Thirty-six significantly differentially expressed mature miRNAs were identified as potential biomarkers. Hierarchical cluster analysis of these miRNAs resulted in the clear discrimination of DS from euploid pregnancies. Gene targets of the differentially expressed miRNAs were enriched in signaling pathways such as mucin type-O-glycans, ECM-receptor interactions, TGF-beta, and endocytosis, which have been previously associated with DS.Conclusions. miRNAs are promising and stable biomarkers for a broad range of diseases and may allow a reliable, cost-efficient diagnostic tool for the noninvasive prenatal diagnosis of DS.

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Baker, Jessica A., Jacob T. Brettin, Megan K. Mulligan, and Kristin M. Hamre. "Effects of Genetics and Sex on Acute Gene Expression Changes in the Hippocampus Following Neonatal Ethanol Exposure in BXD Recombinant Inbred Mouse Strains." Brain Sciences 12, no. 12 (November 29, 2022): 1634. http://dx.doi.org/10.3390/brainsci12121634.

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Fetal alcohol spectrum disorders (FASD) are prevalent neurodevelopmental disorders. Genetics have been shown to have a role in the severity of alcohol’s teratogenic effects on the developing brain. We previously identified recombinant inbred BXD mouse strains that show high (HCD) or low cell death (LCD) in the hippocampus following ethanol exposure. The present study aimed to identify gene networks that influence this susceptibility. On postnatal day 7 (3rd-trimester-equivalent), male and female neonates were treated with ethanol (5.0 g/kg) or saline, and hippocampi were collected 7hrs later. Using the Affymetrix microarray platform, ethanol-induced gene expression changes were identified in all strains with divergent expression sets found between sexes. Genes, such as Bcl2l11, Jun, and Tgfb3, showed significant strain-by-treatment interactions and were involved in many apoptosis pathways. Comparison of HCD versus LCD showed twice as many ethanol-induced genes changes in the HCD. Interestingly, these changes were regulated in the same direction suggesting (1) more perturbed effects in HCD compared to LCD and (2) limited gene expression changes that confer resistance to ethanol-induced cell death in LCD. These results demonstrate that genetic background and sex are important factors that affect differential cell death pathways after alcohol exposure during development that could have long-term consequences.

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Hemberger, Myriam, Haymo Kurz, Annie Orth, Sabine Otto, Angela Lüttges, Rosemary Elliott, Andras Nagy, et al. "Genetic and Developmental Analysis of X-Inactivation in Interspecific Hybrid Mice Suggests a Role for the Y Chromosome in Placental Dysplasia." Genetics 157, no. 1 (January 1, 2001): 341–48. http://dx.doi.org/10.1093/genetics/157.1.341.

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Abstract It has been shown previously that abnormal placental growth, i.e., hyper- and hypoplasia, occurs in crosses and backcrosses between different mouse (Mus) species. A locus that contributes to this abnormal development has been mapped to the X chromosome. Unexpectedly, an influence of fetal sex on placental development has been observed, in that placentas attached to male fetuses tended to exhibit a more pronounced phenotype than placentas attached to females. Here, we have analyzed this sex dependence in more detail. Our results show that differences between male and female placental weights are characteristic of interspecific matings and are not observed in intraspecific Mus musculus matings. The effect is retained in congenic lines that contain differing lengths of M. spretus-derived X chromosome. Expression of the X-linked gene Pgk1 from the maternal allele only and lack of overall activity of two paternally inherited X-linked transgenes indicate that reactivation or lack of inactivation of the paternal X chromosome in trophoblasts of interspecific hybrids is not a frequent occurrence. Thus, the difference between male and female placentas seems not to be caused by faulty preferential X-inactivation. Therefore, these data suggest that the sex difference of placental weights in interspecific hybrids is caused by interactions with the Y chromosome.

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Piprek, Rafal P., Izabela Rams-Pociecha, Robert Zdanowski, Malgorzata Kloc, and Jacek Z. Kubiak. "Desmoplakin (Dsp) conditional knockout in NR5A1+ somatic cells affects germ cell survival in developing mouse gonads." Reproduction 163, no. 4 (April 1, 2022): 199–207. http://dx.doi.org/10.1530/rep-21-0295.

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Cell to cell interactions are crucial for morphogenesis and tissue formation. Desmoplakin (encoded by the Dsp gene) is a component of desmosomes and anchors the transmembrane adhesion proteins to the cytoskeleton. Its role in gonad development remains vague. To study the role of desmoplakin in gonad development, we used a tissue-specific knockout of the Dsp gene in the NR5A1+ somatic cells of the gonads. We show here that desmoplakin is necessary for the survival of germ cells in fetal testes and ovaries. The Dspknockout in NR5A1+ somatic cells in testes decreased the number of germ cells, and thus the size of the testes, but did not affect the Sertoli cells or the structure of testis cords and interstitium. The Dspknockout in NR5A1+ somatic cells in ovaries decreased the number of female germ cells and drastically reduced the formation of ovarian follicles. Dsp knockout in NR5A1+ somatic cells did not affect the sex determination and sexual differentiation of the gonads, as judged from an unchanged expression of genes essential for these processes. We conclude that mediation by desmoplakin cell adhesion between the gonadal cells is necessary for germ cell survival.

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Shabaldin, A. V., A. V. Sinitskaya, and S. A. Shmulevich. "Role of cytokine and Toll-like receptor genes in pathogenesis of inborn heart disease." Medical Immunology (Russia) 24, no. 3 (July 13, 2022): 605–16. http://dx.doi.org/10.15789/1563-0625-roc-2488.

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Sporadic congenital heart disease (CHD) may result from immune disorders in the mother – embryo system and/or constitutional disorders in regulatory systems, including those associated with TLR receptors, cytokines and their receptors. The aim of our study was to investigate associations between cytokine and TLR genes and sporadic congenital heart disease in children. In the main group, 188 children with sporadic (without family history) congenital heart defects were examined. Separate groups of CHD were identified: septal CHD – 98 children; valvular heart disease – 17 children; Fallot tetralogy – 15 children; aorta coarctation – 10 children; fetal drains – 32 children; single ventricle affection – 9 children, and anomalous drainage of v. pulmonalis was diagnosed in 7 children. The control group included 103 age- and sex-matched healthy children. We have determined gene polymorphisms of five genes encoding cytokines and their receptors (IL6 rs1800796, IL6 rs2069827, IL6R rs2228145, IL6R rs2229238, IL8 rs4073, IL10 rs1800871, IL10 rs1800896, IL10 rs1800872, TNF rs1800629, TNF rs361525, TNF rs1799964), four genes Toll-like receptors (TLR: TLR1 rs5743611, TLR1 rs5743551, TLR2 rs5743708, TLR2 rs3804099, TLR4 rs4986791, TLR4 rs4986790, TLR6 rs3775073, TLR6 rs5743810). The dbSNP, SNPinfo, SNPnexus databases were used to select and design test systems. Stepwise logistic regression was the main method of statistical analysis. Clinical diagnosis of congenital heart defects is associated with immune regulatory genes. In particular, the missense mutation TLR6 rs5743810, which was a predictor of congenital valvular heart disease, is of particular importance. Development of congenital heart valve defects and aortic coarctation is associated with intergenic interactions of TLR2 rs5743708 with TLR6 rs5743810, and TLR2 rs5743708 with TLR6 rs3775073, respectively. For congenital heart valve defects, such polymorphic regions are as follows: IL6 rs2069827, IL6R rs2229238, and IL8 rs4073, for aortic coarctation – IL6R rs2228145, IL8 rs4073. Development of septal congenital heart defects is associated with general contribution of polymorphic variants of the TLR genes and cytokines to this pathology. A missense mutation of the TLR4 rs4986790 gene and a TNF rs1799964 mutation leading to increased synthesis of the TNFα molecule, may have a combined effect on this process. In general, contribution of TLR and cytokine genes interactions to the CHD development seems to be not significant.

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Luo, H. Y., D. Mang, G. P. Patrinos, C. J. Y. Wu, S. H. Eung, F. Pourfarzad, J. Whitacre, et al. "A Mutation in a GATA-1 Binding Site 5′ to the Gγ-Globin Gene (nt -567, T>G) May Be Associated with Increased Levels of Fetal Hemoglobin." Blood 104, no. 11 (November 16, 2004): 500. http://dx.doi.org/10.1182/blood.v104.11.500.500.

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Abstract The identification of single nucleotide polymorphisms (SNPs) associated with increased fetal hemoglobin (Hb F) levels in adults provide important insights to the regulation of γ-globin gene expression, and the modulation of Hb F production in severe β hemoglobinopathies. Fourteen known point mutations located between nucleotide (nt) −110 to −205 5′ to the Gγ- and Aγ-globin genes are associated with hereditary persistence of fetal hemoglobin (HPFH). These likely affect the interactions between transcription factors and proximal promoter elements. We investigated both parents and 2 sons of an Iranian-American family, in whom the father and his younger son had elevated Hb F levels (See table). The mother and her older son were heterozygous for the (−α3.7) single α-globin gene deletion, likely accounting for their borderline microcytosis. Extensive nt sequencing of the β-globin gene and promoters of Gγ- and Aγ-globin genes was carried out. No known β-thalassemia mutation was detected in any of the 4 family members. None of the known HPFH point mutations was present. The C>T SNP (Xmn I) at nt −158 5′ to the Gγ-globin gene that has been associated with increased Gγ-globin gene expression was also not found. However, a novel T>G substitution was detected at nt −567 5′ to the Gγ-globin gene in the father and his younger son, but not in the mother and her older son. This SNP alters a putative GATA-1 binding sequence, AGATAA to AGAGAA. Haplotyping of the Gγ Aγβ region in the family showed that the T>G SNP in the father and his younger son resides on the same GγAγβ haplotype. This SNP was not present in 15 individuals of diverse racial and ethnic origins, in 186 Thai individuals, and in 133 of 134 Iranians living in Tehran. To our knowledge, this SNP has not been previously reported in the literature. To begin to study the functional significance of this SNP, gel mobility shift analysis was done with two 40 nt long oligomers, one with the wild type GATA sequence and the other with the mutated GAGA sequence, using uninduced mouse erythroleukemia (MEL) cell nuclear extracts. The mutant GAGA sequence results in a complete loss of GATA-1 binding. The region from nt −382 to −730 5′ to the Aγ-globin gene was reported to be related to Aγ-globin gene silencing (Stamatoyannopoulos et al, Mol Cell Biol 13:7636, 1993). The nt −567 T>G SNP is located within the comparable region of the Gγ-globin gene, which is highly homologous to the Aγ-globin gene. Among the 4 family members under study, no other SNPs are found in the same region. Taken together, these observations raise the possibility that the T>G SNP at nt −567 5′ to the Gγ-globin gene is associated with elevated Hb F, that might be caused by a novel mechanism, i.e., incomplete silencing of the Gγ-globin gene, resulting from the abolished GATA-1 binding. Additional clinical and functional studies will be needed to further document the effect of this SNP upon Gγ-globin gene expression and to ascertain that this SNP represents a HPFH mutation. Hematological Data of Family Father Mother Son Son Age 52 44 13 9 Hb 15.7 14.1 13.2 13.8 MCV 82 77 75 75 Hb A2 2.5 % 3.0 % 3.4 % 3.3 % Hb F 10.2 % 0.7 % 0.7 % 5.9 %

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Erhuma, Aml, Leanne Bellinger, Simon C. Langley-Evans, and Andrew J. Bennett. "Prenatal exposure to undernutrition and programming of responses to high-fat feeding in the rat." British Journal of Nutrition 98, no. 3 (September 2007): 517–24. http://dx.doi.org/10.1017/s0007114507721505.

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Fetal undernutrition programmes risk of later metabolic disorders. Postnatal factors modify the programmed phenotype. This study aimed to assess the effects of a postnatal high-fat (HF) challenge on body weight gain, adiposity and gene expression following prenatal undernutrition. Pregnant rats were fed either a control diet or a low-protein (LP) diet, targeted at days 0–7 (LPE), days 8–14 (LPM), or days 15–22 (LPL) gestation. At 12 weeks of age offspring were either fed standard laboratory chow diet (4·13 % fat), or a 39·5 % fat diet, for 10 weeks. LP exposure had no effect on weight gain or abdominal fat in males. Females exposed to LP diet in utero exhibited a similar weight gain on HF diet as on the chow diet. Programming of fat deposition was noted in LPE females and males of the LPM and LPL groups (P = 0·019). Hypothalamic expression of galanin mRNA was similar in all groups, but expression of the galanin-2 receptor was modified by LP exposure in female offspring. Hepatic expression of sterol response element binding protein (SREBP-1c) was decreased by LP at both the mRNA (P = 0·008) and protein (P < 0·001) level. HF feeding increased expression of SREBP-1c mRNA three-fold in controls, with little response noted in the LP groups. Interactions of factors such as postnatal diet, age and sex act together with prenatal factors to determine metabolic function and responsiveness at any stage of postnatal life. This study further establishes a role for prenatal nutrition in programming the genes involved in lipid metabolism and appetite regulation.

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Paik, David T., Lei Tian, Ian M. Williams, Siyeon Rhee, Hao Zhang, Chun Liu, Ridhima Mishra, Sean M. Wu, Kristy Red-Horse, and Joseph C. Wu. "Single-Cell RNA Sequencing Unveils Unique Transcriptomic Signatures of Organ-Specific Endothelial Cells." Circulation 142, no. 19 (November 10, 2020): 1848–62. http://dx.doi.org/10.1161/circulationaha.119.041433.

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Background: Endothelial cells (ECs) display considerable functional heterogeneity depending on the vessel and tissue in which they are located. Whereas these functional differences are presumably imprinted in the transcriptome, the pathways and networks that sustain EC heterogeneity have not been fully delineated. Methods: To investigate the transcriptomic basis of EC specificity, we analyzed single-cell RNA sequencing data from tissue-specific mouse ECs generated by the Tabula Muris consortium. We used a number of bioinformatics tools to uncover markers and sources of EC heterogeneity from single-cell RNA sequencing data. Results: We found a strong correlation between tissue-specific EC transcriptomic measurements generated by either single-cell RNA sequencing or bulk RNA sequencing, thus validating the approach. Using a graph-based clustering algorithm, we found that certain tissue-specific ECs cluster strongly by tissue (eg, liver, brain), whereas others (ie, adipose, heart) have considerable transcriptomic overlap with ECs from other tissues. We identified novel markers of tissue-specific ECs and signaling pathways that may be involved in maintaining their identity. Sex was a considerable source of heterogeneity in the endothelial transcriptome and we discovered Lars2 to be a gene that is highly enriched in ECs from male mice. We found that markers of heart and lung ECs in mice were conserved in human fetal heart and lung ECs. We identified potential angiocrine interactions between tissue-specific ECs and other cell types by analyzing ligand and receptor expression patterns. Conclusions: We used single-cell RNA sequencing data generated by the Tabula Muris consortium to uncover transcriptional networks that maintain tissue-specific EC identity and to identify novel angiocrine and functional relationships between tissue-specific ECs.

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Jalbrzikowski, Maria, Lambertus Klei, William Foran, Beatriz Luna, and Bernie Devlin. "O11.1. MULTIPLE GENOMIC MEASURES OF SCHIZOPHRENIA RISK ARE RELATED TO CORTICAL THICKNESS IN TYPICALLY DEVELOPING YOUTH AND YOUNG ADULTS." Schizophrenia Bulletin 46, Supplement_1 (April 2020): S27. http://dx.doi.org/10.1093/schbul/sbaa028.061.

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Abstract Background The incidence of psychotic disorders increases in adolescence and young adulthood. Transition to a psychotic disorder is associated with atypical development of brain structures, specifically protracted developmental course. It is unknown how polygenic risk for schizophrenia and gene expression profiles of schizophrenia risk genes affect typical brain development. The goal of the current study is to examine relationships multiple genomic measures associated with schizophrenia risk and structural neuroimaging measures thickness in typically developing youth. Methods We combined structural neuroimaging and genetic data from three different cohorts of typically developing youth (N=994, 5–30 years old): the Philadelphia Neurodevelopmental Cohort, Pediatric Imaging Neurocognition and Genetics Study, and a locally collected sample at the University of Pittsburgh. All youth were free from psychiatric disorders and not taking psychiatric medications. We used Freesurfer to process the T1-weighted structural scans and calculate subcortical volumes, cortical thickness, and surface area measurements. After regressing out study, sex, ancestry eigenvectors, and grey matter signal-to-noise ratio, we ran principal components analysis on all neuroimaging measures (N=156). We calculated a schizophrenia polygenic risk score using genome-wide summary statistics from the Psychiatric Genome Consortium. Using a generalized linear model, each of the top five principal components was evaluated in relation to the risk score. We then used a computational method, Predixcan, to calculate expected gene expression profiles from the genotype data. We selected 125 genes that were associated with schizophrenia in a previous case-control comparison. Elastic net regression was used to determine significant associations between individual gene expression and the principal components. Results Schizophrenia polygenic risk was statistically associated with the 5th principal component (b=-0.10, p=0.001), which consisted of contributions from multiple measures of cortical thickness. Reduced cortical thickness in frontal and temporal regions was associated with increased genetic liability for schizophrenia. Increased cortical thickness in sensory-motor areas was associated with higher schizophrenia polygenic risk scores. This relationship remained when age was included as a predictor of interest and there were no statistically significant interactions between schizophrenia polygenic risk and age. Sixteen unique gene expression profiles were also associated with this principal component, significantly increasing the proportion of variance explained in this measure (from ~1% with the schizophrenia polygenic risk only to ~6% when including the additional gene expression measures). Many of the genes significantly associated with this principal component have important roles during early fetal brain development, including neuronal migration (e.g., SDCCAG8) and DNA repair (e.g., MLH1). Discussion These results suggest that that genetic risk for schizophrenia has a consistent influence on subtle, individual differences in a distinct spatial pattern of cortical thickness across typical development. This spatial pattern of cortical thickness is also associated with schizophrenia risk genes that have important functions during early brain development. Taken together, these findings suggest that increased genetic risk for schizophrenia is related to early subtle alterations during early brain development, setting up individuals with higher risk profiles to have a small biological vulnerability for later developing the illness.

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Lou, Tzu-Fang, Shuguang Ma, Ashley Williams, and Betty S. Pace. "Human KU812 Erythroleukemia Cells: A Model for Competitive γ-Globin Induction by Fetal Hemoglobin Inducing Drugs." Blood 106, no. 11 (November 16, 2005): 2323. http://dx.doi.org/10.1182/blood.v106.11.2323.2323.

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Abstract The control of human hemoglobin gene switching from fetal γ-globin to adult β-globin is important in erythroid maturation and treatment approaches for sickle cell disease. Drugs that reverse the γ to β-globin ratio (γ/β) have been used effectively in clinical settings. Interaction between globin genes and the locus control region is a widely accepted mechanism for competitive γ-gene silencing. Studies in K562 cells are limited and often not correlated with in vivo response in part due to a lack of β-globin expression. Therefore, we tested a KU812 erythroleukemia cell line containing active γ- and β-globin genes, as an in vitro model for screening HbF inducers. Cell viability was monitored by trypan blue exclusion and globin mRNA measured in K562 cells (γ-globin) and KU812 cells (γ and β globin) by quantitative-PCR (q-PCR). Treatments with the histone deacetylase (HDAC) inhibitors: sodium butyrate (NaB, 2mM), trichostatin A (TSA, 0.2–0.5μM), suberoylanilide hydroxamic acid (SAHA, 2.5–5μM) or STI571 (0.5μM) were completed. In addition, hydroxyurea (HU, 100μM) was tested as an HbF inducer control. Results: KU812 cells grown in suspension in IMDM and 10% fetal bovine serum showed viability and proliferative capacity similar to K562 cells. Drug concentrations for SAHA and TSA were decreased to attain acceptable cell viability for 48hr inductions. Controls studies in K562 cells treated with NaB and TSA showed 60–80% viability and 3.2-fold increased γ-globin expression normalized by GAPD (Gγ/GAPD, See Table). For the new agents SAHA (0–5μM) and STI571 (0–2μM) dose response studies showed 62% and 66% viability in K562 cells at 50μM, and a concomitant increase in γ/GAPD mRNA from 1.7 to 40-fold respectively. For KU812 cells at steady-state we observed 40-fold higher γ vs. β globin mRNA. Inductions with NaB, TSA and SAHA produced increased γ/β ratios up to 4.5-fold along with β-gene repression; a scenario desirable in sickle cell patients. Although STI571 induced γ-globin 8-fold this effect was countered by 14-fold β-globin induction to produce a net reversal of the γ/β ratio (0.58). Control studies with HU showed on average an 1.4-fold increase in γ/β globin by 48 hrs suggesting that modest changes in this competitive ratio is sufficient to achieve significant clinical benefits. These data support KU812 cells as a good model for testing competitive γ-globin activation by drug inducers, which could not be ascertained in K562 cells. We plan to correlate: γ/β ratios, HbF protein (by ELISA; Bethyl Lab. INC., Montgomery, TX, and 3) histone H3 and H4 acetylation levels (by western blot) in K562 and KU812 cells. Preliminary ELISA data showed 2.4 to 6.4-fold increase in HbF protein by NaB and SAHA respectively in K562 cells. This data combined with the favorable γ/β globin ratio observed with SAHA suggests this agent might be an efficacious HbF inducer in vivo. Summary: The γ/β globin mRNA ratio was determined in KU812 cells to establish a better measure of drug-mediated HbF induction in vivo. We will screen novel agents for therapeutic potential. KU812 cells might also serve as a good model to study the elusive mechanisms involved in the γ to β globin switch during erythroid maturation. K562 KU812 1TSA 0.5μM; 2TSA 0.2μM; 3SAHA 5μM;†SAHA 2.5μM;* p<0.05 HbF Inducer Drug conc. γ/GAPD Fold Inc. γ/β Fold Inc. None 0 1.0 1.0 NaB 2mM 3.2* 4.51* TSA 0.2–0.5 μM 2.11* 1.612 SAHA 2.5–5 μM 1.73 3.75†* STI571 M μ 0.5 40.0* 0.58* HU μ 100M 1.3* 1.35*

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Pissard, Serge, Chadia Mekki, Serge Hovhannisyan, Lydie M. Da Costa, Valentine Brousse, Carole Conejero, Stephane Giraudier, and Mariane De Montalembert. "GATA 1: pArg202Thr, a New GATA 1 Mutation Involved in a Severe Dyserythropoietic Phenotype." Blood 124, no. 21 (December 6, 2014): 1343. http://dx.doi.org/10.1182/blood.v124.21.1343.1343.

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Abstract Intro: Dyserythropoiesis is a growing class of inherited diseases of various severities in which genes encoding for proteins involved in cellular trafficking, chromatin dynamic or transacting factors restricted to red cells maturation, are mutated. Belonging to this later groups, several mutation in GATA 1, an X linked transacting factor, were associated with dyserytropoietic anemia frequently associated with a thrombopenia. Case report: Our case is the second living child of a mother from Greek origin and a father from French origin. This couple had a first girl without any evidenced abnormality. During the second pregnancy, the male fetus had a severe anemia (Hb: 3.8 g/dL), regenerative (erythroblasts: 176 G/L). He received intrauterine transfusions but the worsening of anemia led to interrupt the pregnancy at 33 weeks. A third pregnancy was terminated because of a Down’s syndrome. A fourth pregnancy revealed the recurrence of a severe anemia at 27 weeks in a male fetus (Hb: 3.2 g/dl). Two intrauterine transfusions allowed the birth at 33 weeks of an anemic boy (at birth Hb 10.6 g/dL, reticulocytes: 261 G/L; erythroblasts: 647G/L). A myelogram was made when he was 3 months old, and showed a severe dyserythropoiesis, with a hypoplastic red cells lineage and a blockade on late erythroblasts. The megakaryocyte lineage appeared to be normal. He received Packed RBC up to 3 month, then Hb level stabilized spontaneously, with at the latest control, when he was aged 7 months, an Hb level at 10.9g/dl, MCV: 88 fL; reticulocytes: 152 G/L; circulating erythroblasts: 7%. Platelets count is 152 G/L. Leucocytes: 13.5 G/L, with PNN: 3.0 G/L, lymphocytes: 7.3 G/L, eosinophils: 1.4 G/L. Genetic analysis in the family and cultivated cells: The available members of the family were extensively studied including globins locus (mutation and deletion), KLF 1, GATA 1, Bcl11a, CDN 1, sec 23B and MPL gene. The exome analysis of the living boy revealed no other genetic defect. In order to get evidence on the pathogenic consequence of the GATA-1 mutation, mRNA were extracted from BFUE obtained from the mother and were searched for the mutation (PCR digestion using Ade I/Dra III and Sanger sequencing) seeking for a "non random" X inactivation Results: Two locus were found to carry a mutation: GATA-1, p.Arg202Thr, NM_00249.3 (GATA-1):c.605G>C) and MPL: p.Trp474Arg, NM_005373.2(MPL_v001):c.1420T>C). The terminated fetus (male) and the living boy were found to be heterozygous for the MPL mutant and hemizygous for the GATA-1 mutant both mutations are inherited from the mother. and the sister is only heterozygous for the MPL mutant (fig 1). The father carries no mutation. The mRNA analysis of independent BFUE clones showed the presence of the wild type GATA-1 messenger into 26 from 28 colonies analysed ( 30 clones, 2 PCR fail). Discussion and conclusion: GATA -1 is a zinc finger transacting factor know to be necessary for the late erythroblasts maturation through the binding onto specific DNA targets with the Cter ZF (aa 258 to 293) and the interaction with FOG with Nter ZF (aa 202 to 248). Mutations affecting the Cter zinc finger would prevent the DNA binding and thus should result in a lethal phenotype as it was described in GATA-1 KO mice model. Several GATA-1 mutations involving the Nter ZF are described (M205V, G208R, G208S, D218G) and are involved in dyserythropoiesis usually with mild anemia. Here we describe a new mutation affecting a highly conserved aa belonging to the Nter ZF. In hemizygous patients, it produces a phenotype very close to that of cases previously described, but more restricted to the erythroid lineage as the only consequence on the thrombopoiesis is, up to now, only a small decrease in platelets count. This case may indicate that the functions of GATA-1 / FOG may differ between fetal and adult erythropoiesis as anemia seems to be worse in the fetal period. However, we evidenced a strong skewed X-chromosome inactivation toward wild type allele in the mother's erythroblasts which is a strong argument for a marked impairment of the interaction and/or the function of the GATA-1Arg202Thr /FOG complex. Figure 1: family pedigree and GATA-1 / MPL genotype Figure 1:. family pedigree and GATA-1 / MPL genotype Disclosures No relevant conflicts of interest to declare.

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Wyszynski, Diego F., Clinton T. Baldwin, Mario Cleves, John J. Farrell, Alice Bisbee, Abdullah Kutlar, Lindsay A. Farrer, and Martin H. Steinberg. "Genetic Polymorphisms Associated with Fetal Hemoglobin Response to Hydroxyurea in Patients with Sickle Cell Anemia." Blood 104, no. 11 (November 16, 2004): 108. http://dx.doi.org/10.1182/blood.v104.11.108.108.

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Abstract Hydroxyurea (HU) is an effective treatment for most patients with symptomatic sickle cell anemia, yet the fetal hemoglobin (HbF) response to treatment is variable. A capacity to predict an individual’s HbF response to HU would aid the selection of patients for treatment and reduce toxicity from unfruitful dose escalation. Unfortunately, this is presently not possible. We hypothesized that HbF levels and the HbF response to HU are regulated as complex genetic traits and previously showed that 12 single nucleotide polymorphisms (SNPs), associated with a 20% to 30% difference in baseline HbF concentrations, were found in the introns of 4 genes, PDE7B, MAP7, MAP3K5 and PEX7, spanning the genomic region from 136.1 Mb to 137.5 Mb on chromosome 6q (Cell Mol Biol 50:23, 2004). To begin to define the genetic predictors of the HbF response to (HU), we examined SNPs in candidate genes and genetic loci in 214 patients with sickle cell anemia whose HbF levels were available before HU treatment was started and after these patients reached a stable dose of this drug. Forty-six candidate genes were chosen because of their possible role in HbF regulation and HU metabolism and 226 SNPs in these genes were examined by mass spectrometry. A computer application developed in STATA was used to carry out multiple linear regression analysis with simultaneous adjustment for age, sex and the α- and β-globin gene cluster haplotypes for each SNP and combinations of nearby SNPs. Dominant, codominant and recessive models for modulating HbF expression were tested. In this QTL analysis, SNPs in a member of the cytochrome P450 family (CYP2C9), in aquaporin 9 (AQP9) and in the chromosome 6q qtl described above were significantly associated with the HbF response to HU. The effect of genotype on the magnitude of HbF response to HU was examined for selected SNPs in AQP9 and CYP2C9. In AQP9, AA was associated with an average increase of 6% in HbF compared with GG (rs1867380; OR 6.6, p<0.001). In CYP2C9, AG was associated with an average increase of 3% and GG with an average increase of 11% (rs2209331; OR 1.6 and 7.5, p=0.05, 0.000). An effect was also noted for the 6q qtl. We also treated the increase in HbF as a discretized variable, comparing individuals in the lower two quartiles of HbF response with individuals in the top quartile of HbF response to HU (Blood 89:1078, 1997). These same genotypes were more common in good HU responders than in poor responders (p<0.05). CYP2C9 (10q24) encodes a member of the cytochrome P450 superfamily of enzymes, monooxygenases catalyzing many reactions involved in drug metabolism, plays some role in the metabolism of HU derivatives. AQP9 (15q22.1–22.1), belongs to a family of water-selective membrane channels and stimulates urea transport, permitting passage of many uncharged solutes. These results begin to define the pattern of genetic heterogeneity that may be used ultimately to predict a patient’s HbF response to HU. As multiple genes are very likely to play roles in this response, the interactions and predictive value of their polymorphisms will need to be modeled with methods that account for simultaneous associations.

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Kaur, Harleen, Alison S. Care, Rebecca L. Wilson, Sandra G. Piltz, Paul Q. Thomas, Beverly S. Muhlhausler, Claire T. Roberts, and Kathryn L. Gatford. "A sexually-dimorphic murine model of IUGR induced by embryo transfer." Reproduction, November 2020. http://dx.doi.org/10.1530/rep-20-0209.

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Animal models are needed to develop interventions to prevent or treat intrauterine growth restriction (IUGR). Fetal growth rates and effects of in utero exposures differ between sexes, but little is known about sex-specific effects of increasing litter size. We established a murine IUGR model using pregnancies generated by multiple embryo transfers, and evaluated sex-specific responses to increasing litter size. CBAF1 embryos were collected at gestation day 0.5 (GD0.5) and 6, 8, 10 or 12 embryos were transferred into each uterine horn of pseudo-pregnant female CD1 mice (n=32). Fetal and placental outcomes were measured at GD18.5. In the main experiment fetuses were genotyped (Sry) for analysis of sex-specific outcomes. The number of implantation sites (P=0.033) and litter size (number of fetuses, P=0.008) correlated positively with number of embryos transferred, while placental weight correlated negatively with litter size (both P<0.01). The relationship between viable litter size and fetal weight differed between sexes (interaction P=0.002), such that fetal weights of males (P=0.002), but not females (P=0.233), correlated negatively with litter size. Placental weight decreased with increasing litter size (P<0.001) and was lower in females than males (P=0.020). Our results suggest that male fetuses grow as fast as permitted by nutrient supply, whereas the female maintains placental reserve capacity. This strategy reflecting sex-specific gene expression is likely to place the male fetus at greater risk of death in the event of a “second hit”.

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Martinez, Maria Elena, Julia Patrizia Stohn, Elizabeth M. Mutina, Rayne J. Whitten, and Arturo Hernandez. "Thyroid hormone elicits intergenerational epigenetic effects on adult social behavior and fetal brain expression of autism susceptibility genes." Frontiers in Neuroscience 16 (November 7, 2022). http://dx.doi.org/10.3389/fnins.2022.1055116.

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Genetic mutations identified in genome-wide association studies can only explain a small percentage of the cases of complex, highly heritable human conditions, including neurological and neurodevelopmental disorders. This suggests that intergenerational epigenetic effects, possibly triggered by environmental circumstances, may contribute to their etiology. We previously described altered DNA methylation signatures in the sperm of mice that experienced developmental overexposure to thyroid hormones as a result of a genetic defect in hormone clearance (DIO3 deficiency). Here we studied fetal brain gene expression and adult social behavior in genetically normal F2 generation descendants of overexposed mice. The brain of F2 generation E13.5 fetuses exhibited abnormal expression of genes associated with autism in humans, including Auts2, Disc1, Ldlr, Per2, Shank3, Oxtr, Igf1, Foxg1, Cd38, Grid2, Nrxn3, and Reln. These abnormal gene expression profiles differed depending on the sex of the exposed ancestor. In the three-chamber social box test, adult F2 generation males manifested significantly decreased interest in social interaction and social novelty, as revealed by decrease total time, distance traveled and time immobile in the area of interaction with novel strangers. F1 generation mice, compared to appropriate controls also exhibited altered profiles in fetal brain gene expression, although these profiles were substantially different to those in the F2 generation. Likewise adult F1 generation mice showed some abnormalities in social behavior that were sexually dimorphic and milder than those in F2 generation mice. Our results indicate that developmental overexposure to thyroid hormone causes intergenerational epigenetic effects impacting social behavior and the expression of autism-related genes during early brain development. Our results open the possibility that altered thyroid hormone states, by eliciting changes in the epigenetic information of the germ line, contribute to the susceptibility and the missing—but heriTables—etiology of complex neurodevelopmental conditions characterized by social deficits, including autism and schizophrenia.

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Sanford, Carla D., Megan P. T. Owen, K. McCarty, Luara B. Canal, Tessa M. Schulmeister, Nicola Oosthuizen, Pedro L. P. Fontes, et al. "Effects of Administering Exogenous Bovine Somatotropin During the First Trimester of Pregnancy Altered Uterine Hemodynamics in Suckled Beef Cows." Frontiers in Animal Science 2 (October 20, 2021). http://dx.doi.org/10.3389/fanim.2021.744790.

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The objective of this study was to examine the effects of recombinant bovine somatotropin (bST) administration on uterine hemodynamics and subsequent fetal programming in suckled cows during the first trimester of gestation. Crossbred beef cows (n = 152) were stratified by breed, days postpartum, parity, cyclicity status, and body condition score (BCS) before being assigned to either receive injections of bST every other week (BST; 500-mg/14 d) starting at fixed-time artificial insemination (TAI; d 0) until d 97 or to receive no bST (CTL). Blood samples were collected until d 97 for analysis of plasma concentrations of insulin-like growth factor 1 (IGF-1). Pregnancy was assessed via transrectal ultrasonography on d 41 and 173. A subset of pregnant cows (BST, n = 24; CTL, n = 28) were selected for assessment of uterine arterial blood flow (BF), pulsatility index, and resistance index (RI) of the uterine arteries ipsilateral and contralateral to the conceptus via color Doppler ultrasonography on d 97 and 233 of gestation. No differences (P = 0.99) were detected in body weight (BW) or BCS of dams; however, plasma concentrations of IGF-1 were greater (P < 0.001) in BST-treated cows. Color Doppler ultrasonography parameters differed whereby a treatment × day interaction (P = 0.007) was detected for RI on d 97 (P = 0.048); however, on d 233, RI did not differ (P > 0.10) but ipsilateral BF for BST-treated cows was greater (P = 0.0319) than controls. Mean heart girth diameter, crown-to-rump length, and neonate BW at 7 ± 5 d of calf age did not differ (P > 0.10). Liver tissue samples from each calf were collected for analysis of mRNA expression of target insulin-like growth factor system ligands. There was no difference in gene expression of hepatic IGF-1 between treatments (P = 0.99). A treatment × sex interaction was determined, where BST heifers had increased mRNA expression of IGFR1 compared to BST bulls (P = 0.03). Bi-weekly administration of bST until d 97 of pregnancy increased plasma concentrations of IGF-1, altered uterine hemodynamics in dams, induced sex-specific changes in liver gene expression of the offspring but failed to alter calf morphometries or calf performance until weaning.

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Hoyle, Ashley S., Ana Clara B. Menezes, Megan A. Nelson, Kendall C. Swanson, Kimberly A. Vonnahme, Eric P. Berg, and Alison K. Ward. "Fetal expression of genes related to metabolic function is impacted by supplementation of ground beef and sucrose during gestation in a swine model." Journal of Animal Science 98, no. 8 (July 20, 2020). http://dx.doi.org/10.1093/jas/skaa232.

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Abstract To determine the effects of maternal supplementation on the mRNA abundance of genes associated with metabolic function in fetal muscle and liver, pregnant sows (Landrace × Yorkshire; initial body weight (BW) 221.58 ± 33.26 kg; n = 21) fed a complete gestation diet (corn–soybean meal based diet, CSM) were randomly assigned to 1 of 4 isocaloric supplementation treatments: control (CON, 378 g/d CSM, n = 5), sucrose (SUGAR, 255 g/d crystalized sugar, n = 5), cooked ground beef (BEEF, 330 g/d n = 6), or BEEF + SUGAR (B+S, 165 g/d cooked ground beef and 129 g/d crystalized sugar, n = 5), from days 40 to 110 of gestation. Sows were euthanized on day 111 of gestation. Two male and 2 female fetuses of median BW were selected from each litter, and samples of the longissimus dorsi muscle and liver were collected. Relative transcript level was quantified via qPCR with HPRT1 as the reference gene for both muscle and liver samples. The following genes were selected and analyzed in the muscle: IGF1R, IGF2, IGF2R, GYS-1, IRS-1, INSR, SREBP-1C, and LEPR; while the following were analyzed in the liver: IGF2, IGF2R, FBFase, G6PC, PC, PCK1, FGF21, and LIPC. No effect of fetal sex by maternal treatment interaction was observed in mRNA abundance of any of the genes evaluated (P > 0.11). In muscle, the maternal nutritional treatment influenced (P = 0.02) IGF2 mRNA abundance, with B+S and SUGAR fetuses having lower abundance than CON, which was not different from BEEF. Additionally, SREBP-1 mRNA abundance was greater (P < 0.01) for B+S compared with CON, BEEF, or SUGAR fetuses; and females tended (P = 0.06) to have an increased abundance of SREBP-1 than males. In fetal liver, IGF2R mRNA abundance was greater (P = 0.01) for CON and BEEF than SUGAR and B+S; while FBPase mRNA abundance was greater (P = 0.03) for B+S compared with the other groups. In addition, maternal nutritional tended (P = 0.06) to influence LIPC mRNA abundance, with increased abundance in CON compared with SUGAR and B+S. These data indicate limited changes in transcript abundance due to substitution of supplemental sugar by ground beef during mid to late gestation. However, the differential expression of FBPase and SREBP-1c in response to the simultaneous supplementation of sucrose and ground beef warrants further investigations, since these genes may play important roles in determining the offspring susceptibility to metabolic diseases.

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Miyado, Mami, Maki Fukami, and Tsutomu Ogata. "MAMLD1 and Differences/Disorders of Sex Development: An Update." Sexual Development, October 25, 2021, 1–12. http://dx.doi.org/10.1159/000519298.

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MAMLD1 (alias CXorf6) was first documented in 2006 as a causative gene of 46,XY differences/disorders of sex development (DSD). MAMLD1/Mamld1 is expressed in the fetal testis and is predicted to enhance the expression of several Leydig cell-specific genes. To date, hemizygous MAMLD1 variants have been identified in multiple 46,XY individuals with hypomasculinized external genitalia. Pathogenic MAMLD1 variants are likely to cause genital abnormalities at birth and are possibly associated with age-dependent deterioration of testicular function. In addition, some MAMLD1 variants have been identified in 46,XX individuals with ovarian dysfunction. However, recent studies have raised the possibility that MAMLD1 variants cause 46,XY DSD and ovarian dysfunction as oligogenic disorders. Unsolved issues regarding MAMLD1 include the association between MAMLD1 variants and 46,XX testicular DSD, gene-gene interactions in the development of MAMLD1-mediated DSD, and intracellular functions of MAMLD1.

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Mordaunt, Charles E., Julia M. Jianu, Benjamin I. Laufer, Yihui Zhu, Hyeyeon Hwang, Keith W. Dunaway, Kelly M. Bakulski, et al. "Cord blood DNA methylome in newborns later diagnosed with autism spectrum disorder reflects early dysregulation of neurodevelopmental and X-linked genes." Genome Medicine 12, no. 1 (October 14, 2020). http://dx.doi.org/10.1186/s13073-020-00785-8.

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Abstract Background Autism spectrum disorder (ASD) is a neurodevelopmental disorder with complex heritability and higher prevalence in males. The neonatal epigenome has the potential to reflect past interactions between genetic and environmental factors during early development and influence future health outcomes. Methods We performed whole-genome bisulfite sequencing of 152 umbilical cord blood samples from the MARBLES and EARLI high-familial risk prospective cohorts to identify an epigenomic signature of ASD at birth. Samples were split into discovery and replication sets and stratified by sex, and their DNA methylation profiles were tested for differentially methylated regions (DMRs) between ASD and typically developing control cord blood samples. DMRs were mapped to genes and assessed for enrichment in gene function, tissue expression, chromosome location, and overlap with prior ASD studies. DMR coordinates were tested for enrichment in chromatin states and transcription factor binding motifs. Results were compared between discovery and replication sets and between males and females. Results We identified DMRs stratified by sex that discriminated ASD from control cord blood samples in discovery and replication sets. At a region level, 7 DMRs in males and 31 DMRs in females replicated across two independent groups of subjects, while 537 DMR genes in males and 1762 DMR genes in females replicated by gene association. These DMR genes were significantly enriched for brain and embryonic expression, X chromosome location, and identification in prior epigenetic studies of ASD in post-mortem brain. In males and females, autosomal ASD DMRs were significantly enriched for promoter and bivalent chromatin states across most cell types, while sex differences were observed for X-linked ASD DMRs. Lastly, these DMRs identified in cord blood were significantly enriched for binding sites of methyl-sensitive transcription factors relevant to fetal brain development. Conclusions At birth, prior to the diagnosis of ASD, a distinct DNA methylation signature was detected in cord blood over regulatory regions and genes relevant to early fetal neurodevelopment. Differential cord methylation in ASD supports the developmental and sex-biased etiology of ASD and provides novel insights for early diagnosis and therapy.

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de Mattos, Karine, Robert S. Viger, and Jacques J. Tremblay. "Transcription Factors in the Regulation of Leydig Cell Gene Expression and Function." Frontiers in Endocrinology 13 (April 7, 2022). http://dx.doi.org/10.3389/fendo.2022.881309.

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Cell differentiation and acquisition of specialized functions are inherent steps in events that lead to normal tissue development and function. These processes require accurate temporal, tissue, and cell-specific activation or repression of gene transcription. This is achieved by complex interactions between transcription factors that form a unique combinatorial code in each specialized cell type and in response to different physiological signals. Transcription factors typically act by binding to short, nucleotide-specific DNA sequences located in the promoter region of target genes. In males, Leydig cells play a crucial role in sex differentiation, health, and reproductive function from embryonic life to adulthood. To better understand the molecular mechanisms regulating Leydig cell differentiation and function, several transcription factors important to Leydig cells have been identified, including some previously unknown to this specialized cell type. This mini review summarizes the current knowledge on transcription factors in fetal and adult Leydig cells, describing their roles and mechanisms of action.

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Addo, Kezia A., Catherine Bulka, Radhika Dhingra, Hudson P. Santos, Lisa Smeester, T. Michael O’Shea, and Rebecca C. Fry. "Acetaminophen use during pregnancy and DNA methylation in the placenta of the extremely low gestational age newborn (ELGAN) cohort." Environmental Epigenetics 5, no. 2 (April 1, 2019). http://dx.doi.org/10.1093/eep/dvz010.

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Abstract Acetaminophen is considered the safest antipyretic and analgesic medication for pregnant women. However, studies have reported that acetaminophen has endocrine disrupting properties and prenatal exposure has been associated with early life epigenetic changes and later life health outcomes. As the placenta is the central mediator of maternal and fetal interactions, exposure to acetaminophen during pregnancy could manifest as perturbations in the placenta epigenome. Here, we evaluated epigenome-wide cytosine-guanine dinucleotide (CpG) methylation in placental tissue in relation to maternal acetaminophen use during pregnancy in a cohort of 286 newborns born prior to 28 weeks gestation. According to maternal self-report, more than half (166 of 286) of the newborns were exposed to acetaminophen in utero. After adjustment for potential confounders, a total of 42 CpGs were identified to be differentially methylated at a false discovery rate < 0.05, with most displaying increased methylation as it relates to acetaminophen exposure. A notable gene that was significantly associated with acetaminophen is the prostaglandin receptor (PTGDR) which plays an essential role in mediating placental blood flow and fetal growth. Moreover, for 6 of the 42 CpGs, associations of acetaminophen use with methylation were significantly different between male and female placentas; 3 CpG sites were associated with acetaminophen use in the male placenta and 3 different sites were associated with acetaminophen use in the female placenta (Pinteraction < 0.2). These findings highlight a relationship between maternal acetaminophen use during pregnancy and the placental epigenome and suggest that the responses for some CpG sites are sex dependent.

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Sedlmeier, Eva-Maria, Dorothy M. Meyer, Lynne Stecher, Manuela Sailer, Hannelore Daniel, Hans Hauner, and Bernhard L. Bader. "Fetal sex modulates placental microRNA expression, potential microRNA-mRNA interactions, and levels of amino acid transporter expression and substrates: INFAT study subpopulation analysis of n-3 LCPUFA intervention during pregnancy and associations with offspring body composition." BMC Molecular and Cell Biology 22, no. 1 (March 3, 2021). http://dx.doi.org/10.1186/s12860-021-00345-x.

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Abstract Background Previously, we revealed sexually dimorphic mRNA expression and responsiveness to maternal dietary supplementation with n-3 long-chain polyunsaturated fatty acids (LCPUFA) in placentas from a defined INFAT study subpopulation. Here, we extended these analyses and explored the respective placental microRNA expression, putative microRNA-mRNA interactions, and downstream target processes as well as their associations with INFAT offspring body composition. Results We performed explorative placental microRNA profiling, predicted microRNA-mRNA interactions by bioinformatics, validated placental target microRNAs and their putative targets by RT-qPCR and western blotting, and measured amino acid levels in maternal and offspring cord blood plasma and placenta. microRNA, mRNA, protein, and amino acid levels were associated with each other and with offspring body composition from birth to 5 years of age. Forty-six differentially regulated microRNAs were found. Validations identified differential expression for microRNA-99a (miR-99a) and its predicted target genes mTOR, SLC7A5, encoding L-type amino acid transporter 1 (LAT1), and SLC6A6, encoding taurine transporter (TauT), and their prevailing significant sexually dimorphic regulation. Target mRNA levels were mostly higher in placentas from control male than from female offspring, whereas respective n-3 LCPUFA responsive target upregulation was predominantly found in female placentas, explaining the rather balanced expression levels between the sexes present only in the intervention group. LAT1 and TauT substrates tryptophan and taurine, respectively, were significantly altered in both maternal plasma at 32 weeks’ gestation and cord plasma following intervention, but not in the placenta. Several significant associations were observed for miR-99a, mTOR mRNA, SLC7A5 mRNA, and taurine and tryptophan in maternal and cord plasma with offspring body composition at birth, 1 year, 3 and 5 years of age. Conclusions Our data suggest that the analyzed targets may be part of a sexually dimorphic molecular regulatory network in the placenta, possibly modulating gene expression per se and/or counteracting n-3 LCPUFA responsive changes, and thereby stabilizing respective placental and fetal amino acid levels. Our data propose placental miR-99, SLC7A5 mRNA, and taurine and tryptophan levels in maternal and fetal plasma as potentially predictive biomarkers for offspring body composition.

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Chavdarov, Anatoliy V. "Special Issue No. – 10, June, 2020 Journal > Special Issue > Special Issue No. – 10, June, 2020 > Page 5 “Quantative Methods in Modern Science” organized by Academic Paper Ltd, Russia MORPHOLOGICAL AND ANATOMICAL FEATURES OF THE GENUS GAGEA SALISB., GROWING IN THE EAST KAZAKHSTAN REGION Authors: Zhamal T. Igissinova,Almash A. Kitapbayeva,Anargul S. Sharipkhanova,Alexander L. Vorobyev,Svetlana F. Kolosova,Zhanat K. Idrisheva, DOI: https://doi.org/10.26782/jmcms.spl.10/2020.06.00041 Abstract: Due to ecological preferences among species of the genus GageaSalisb, many plants are qualified as rare and/or endangered. Therefore, the problem of rational use of natural resources, in particular protection of early spring plant species is very important. However, literary sources analysis only reveals data on the biology of species of this genus. The present research,conducted in the spring of 2017-2019, focuses on anatomical and morphological features of two Altai species: Gagealutea and Gagea minima; these features were studied, clarified and confirmed by drawings and photographs. The anatomical structure of the stem and leaf blade was studied in detail. The obtained research results will prove useful for studies of medicinal raw materials and honey plants. The aforementioned species are similar in morphological features, yet G. minima issmaller in size, and its shoots appear earlier than those of other species Keywords: Flora,gageas,Altai species,vegetative organs., Refference: I. Atlas of areas and resources of medicinal plants of Kazakhstan.Almaty, 2008. II. Baitenov M.S. Flora of Kazakhstan.Almaty: Ġylym, 2001. III. DanilevichV. G. ThegenusGageaSalisb. of WesternTienShan. PhD Thesis, St. Petersburg,1996. IV. EgeubaevaR.A., GemedzhievaN.G. The current state of stocks of medicinal plants in some mountain ecosystems of Kazakhstan.Proceedings of the international scientific conference ‘”Results and prospects for the development of botanical science in Kazakhstan’, 2002. V. Kotukhov Yu.A. New species of the genus Gagea (Liliaceae) from Southern Altai. Bot. Journal.1989;74(11). VI. KotukhovYu.A. ListofvascularplantsofKazakhstanAltai. Botan. Researches ofSiberiaandKazakhstan.2005;11. VII. KotukhovYu. The current state of populations of rare and endangered plants in Eastern Kazakhstan. Almaty: AST, 2009. VIII. Kotukhov Yu.A., DanilovaA.N., AnufrievaO.A. Synopsisoftheonions (AlliumL.) oftheKazakhstanAltai, Sauro-ManrakandtheZaisandepression. BotanicalstudiesofSiberiaandKazakhstan. 2011;17: 3-33. IX. Kotukhov, Yu.A., Baytulin, I.O. Rareandendangered, endemicandrelictelementsofthefloraofKazakhstanAltai. MaterialsoftheIntern. scientific-practical. conf. ‘Sustainablemanagementofprotectedareas’.Almaty: Ridder, 2010. X. Krasnoborov I.M. et al. The determinant of plants of the Republic of Altai. Novosibirsk: SB RAS, 2012. XI. Levichev I.G. On the species status of Gagea Rubicunda. Botanical Journal.1997;6:71-76. XII. Levichev I.G. A new species of the genus Gagea (Liliaceae). Botanical Journal. 2000;7: 186-189. XIII. Levichev I.G., Jangb Chang-gee, Seung Hwan Ohc, Lazkovd G.A.A new species of genus GageaSalisb.(Liliaceae) from Kyrgyz Republic (Western Tian Shan, Chatkal Range, Sary-Chelek Nature Reserve). Journal of Asia-Pacific Biodiversity.2019; 12: 341-343. XIV. Peterson A., Levichev I.G., Peterson J. Systematics of Gagea and Lloydia (Liliaceae) and infrageneric classification of Gagea based on molecular and morphological data. Molecular Phylogenetics and Evolution.2008; 46. XV. Peruzzi L., Peterson A., Tison J.-M., Peterson J. Phylogenetic relationships of GageaSalisb.(Liliaceae) in Italy, inferred from molecular and morphological data matrices. Plant Systematics and Evolution; 2008: 276. XVI. Rib R.D. Honey plants of Kazakhstan. Advertising Digest, 2013. XVII. Scherbakova L.I., Shirshikova N.A. Flora of medicinal plants in the vicinity of Ust-Kamenogorsk. Collection of materials of the scientific-practical conference ‘Unity of Education, Science and Innovation’. Ust-Kamenogorsk: EKSU, 2011. XVIII. syganovA.P. PrimrosesofEastKazakhstan. Ust-Kamenogorsk: EKSU, 2001. XIX. Tsyganov A.P. Flora and vegetation of the South Altai Tarbagatay. Berlin: LAP LAMBERT,2014. XX. Utyasheva, T.R., Berezovikov, N.N., Zinchenko, Yu.K. ProceedingsoftheMarkakolskStateNatureReserve. Ust-Kamenogorsk, 2009. XXI. Xinqi C, Turland NJ. Gagea. Flora of China.2000;24: 117-121. XXII. Zarrei M., Zarre S., Wilkin P., Rix E.M. Systematic revision of the genus GageaSalisb. (Liliaceae) in Iran.BotJourn Linn Soc.2007;154. XXIII. Zarrei M., Wilkin P., Ingroille M.J., Chase M.W. A revised infrageneric classification for GageaSalisb. (Tulipeae; Liliaceae): insights from DNA sequence and morphological data.Phytotaxa.2011:5. View | Download INFLUENCE OF SUCCESSION CROPPING ON ECONOMIC EFFICIENCY OF NO-TILL CROP ROTATIONS Authors: Victor K. Dridiger,Roman S. Stukalov,Rasul G. Gadzhiumarov,Anastasiya A. Voropaeva,Viktoriay A. Kolomytseva, DOI: https://doi.org/10.26782/jmcms.spl.10/2020.06.00042 Abstract: This study was aimed at examining the influence of succession cropping on the economic efficiency of no-till field crop rotations on the black earth in the zone of unstable moistening of the Stavropol krai. A long-term stationary experiment was conducted to examine for the purpose nine field crop rotation patterns different in the number of fields (four to six), set of crops, and their succession in crop rotation. The respective shares of legumes, oilseeds, and cereals in the cropping pattern were 17 to 33, 17 to 40, and 50 to 67 %. It has been established that in case of no-till field crop cultivation the economic efficiency of plant production depends on the set of crops and their succession in rotation. The most economically efficient type of crop rotation is the soya-winter wheat-peas-winter wheat-sunflower-corn six-field rotation with two fields of legumes: in this rotation 1 ha of crop rotation area yields 3 850 grain units per ha at a grain unit prime cost of 5.46 roubles; the plant production output return and profitability were 20,888 roubles per ha and 113 %, respectively. The high production profitabilities provided by the soya-winter wheat-sunflower four-field and the soya-winter-wheat-sunflower-corn-winter wheat five-field crop rotation are 108.7 and 106.2 %, respectively. The inclusion of winter wheat in crop rotation for two years in a row reduces the second winter wheat crop yield by 80 to 100 %, which means a certain reduction in the grain unit harvesting rate to 3.48-3.57 thousands per ha of rotation area and cuts the production profitability down to 84.4-92.3 %. This is why, no-till cropping should not include winter wheat for a second time Keywords: No-till technology,crop rotation,predecessor,yield,return,profitability, Refference: I Badakhova G. Kh. and Knutas A. V., Stavropol Krai: Modern Climate Conditions [Stavropol’skiykray: sovremennyyeklimaticheskiyeusloviya]. Stavropol: SUE Krai Communication Networks, 2007. II Cherkasov G. N. and Akimenko A. S. Scientific Basis of Modernization of Crop Rotations and Formation of Their Systems according to the Specializations of Farms in the Central Chernozem Region [Osnovy moderniz atsiisevooborotoviformirovaniyaikh sistem v sootvetstvii so spetsi-alizatsiyeykhozyaystvTsentral’nogoChernozem’ya]. Zemledelie. 2017; 4: 3-5. III Decree 330 of July 6, 2017 the Ministry of Agriculture of Russia “On Approving Coefficients of Converting to Agricultural Crops to Grain Units [Ob utverzhdeniikoeffitsiyentovperevoda v zernovyyee dinitsysel’s kokhozyaystvennykhkul’tur]. IV Dridiger V. K., About Methods of Research of No-Till Technology [O metodikeissledovaniytekhnologii No-till]//Achievements of Science and Technology of AIC (Dostizheniyanaukiitekhniki APK). 2016; 30 (4): 30-32. V Dridiger V. K. and Gadzhiumarov R. G. Growth, Development, and Productivity of Soya Beans Cultivated On No-Till Technology in the Zone of Unstable Moistening of Stavropol Region [Rost, razvitiyeiproduktivnost’ soiprivozdelyvaniipotekhnologii No-till v zone ne-ustoychivog ouvlazhneniyaStavropol’skogokraya]//Oil Crops RTBVNIIMK (Maslichnyyekul’turyNTBVNIIMK). 2018; 3 (175): 52–57. VI Dridiger V. K., Godunova E. I., Eroshenko F. V., Stukalov R. S., Gadzhiumarov, R. G., Effekt of No-till Technology on erosion resistance, the population of earthworms and humus content in soil (Vliyaniyetekhnologii No-till naprotivoerozionnuyuustoychivost’, populyatsiyudozhdevykhcherveyisoderzhaniyegumusa v pochve)//Research Journal of Pharmaceutical, Biological and Chemical Sciences. 2018; 9 (2): 766-770. VII Karabutov A. P., Solovichenko V. D., Nikitin V. V. et al., Reproduction of Soil Fertility, Productivity and Energy Efficiency of Crop Rotations [Vosproizvodstvoplodorodiyapochv, produktivnost’ ienergeticheskayaeffektivnost’ sevooborotov]. Zemledelie. 2019; 2: 3-7. VIII Kulintsev V. V., Dridiger V. K., Godunova E. I., Kovtun V. I., Zhukova M. P., Effekt of No-till Technology on The Available Moisture Content and Soil Density in The Crop Rotation [Vliyaniyetekhnologii No-till nasoderzhaniyedostupnoyvlagiiplotnost’ pochvy v sevoob-orote]// Research Journal of Pharmaceutical, Biological and Chemical Sciences. 2017; 8 (6): 795-99. IX Kulintsev V. V., Godunova E. I., Zhelnakova L. I. et al., Next-Gen Agriculture System for Stavropol Krai: Monograph [SistemazemledeliyanovogopokoleniyaStavropol’skogokraya: Monogtafiya]. Stavropol: AGRUS Publishers, Stavropol State Agrarian University, 2013. X Lessiter Frank, 29 reasons why many growers are harvesting higher no-till yields in their fields than some university scientists find in research plots//No-till Farmer. 2015; 44 (2): 8. XI Rodionova O. A. Reproduction and Exchange-Distributive Relations in Farming Entities [Vosproizvodstvoiobmenno-raspredelitel’nyyeotnosheniya v sel’skokhozyaystvennykhorganizatsiyakh]//Economy, Labour, and Control in Agriculture (Ekonomika, trud, upravleniye v sel’skomkhozyaystve). 2010; 1 (2): 24-27. XII Sandu I. S., Svobodin V. A., Nechaev V. I., Kosolapova M. V., and Fedorenko V. F., Agricultural Production Efficiency: Recommended Practices [Effektivnost’ sel’skokhozyaystvennogoproizvodstva (metodicheskiyerekomendatsii)]. Moscow: Rosinforagrotech, 2013. XIII Sotchenko V. S. Modern Corn Cultivation Technologies [Sovremennayatekhnologiyavozdelyvaniya]. Moscow: Rosagrokhim, 2009. View | Download DEVELOPMENT AND TESTING OF AUTONOMOUS PORTABLE SEISMOMETER DESIGNED FOR USE AT ULTRALOW TEMPERATURES IN ARCTIC ENVIRONMENT Authors: Mikhail A. Abaturov,Yuriy V. Sirotinskiy, DOI: https://doi.org/10.26782/jmcms.spl.10/2020.06.00043 Abstract: This paper is concerned with solving one of the issues of the general problem of designing geophysical equipment for the natural climatic environment of the Arctic. The relevance of the topic has to do with an increased global interest in this region. The paper is aimed at considering the basic principles of developing and the procedure of testing seismic instruments for use at ultralow climatic temperatures. In this paper the indicated issue is considered through the example of a seismic module designed for petroleum and gas exploration by passive seismoacoustic methods. The seismic module is a direct-burial portable unit of around 5 kg in weight, designed to continuously measure and record microseismic triaxial orthogonal (ZNE) noise in a range from 0.1 to 45 Hz during several days in autonomous mode. The functional chart of designing the seismic module was considered, and concrete conclusions were made for choosing the necessary components to meet the ultralow-temperature operational requirements. The conclusions made served for developing appropriate seismic module. In this case, the components and tools used included a SAFT MP 176065 xc low-temperature lithium cell, industrial-spec electronic component parts, a Zhaofeng Geophysical ZF-4.5 Chinese primary electrodynamic seismic sensor, housing seal parts made of frost-resistant silicone materials, and finely dispersed silica gel used as water-retaining sorbent to avoid condensation in the housing. The paper also describes a procedure of low-temperature collation tests at the lab using a New Brunswick Scientific freezing plant. The test results proved the operability of the developed equipment at ultralow temperatures down to -55°C. In addition, tests were conducted at low microseismic noises in the actual Arctic environment. The possibility to detect signals in a range from 1 to 10 Hz at the level close to the NLNM limit (the Peterson model) has been confirmed, which allows monitoring and exploring petroleum and gas deposits by passive methods. As revealed by this study, the suggested approaches are efficient in developing high-precision mobile seismic instruments for use at ultralow climatic temperatures. The solution of the considered instrumentation and methodical issues is of great practical significance as a constituent of the generic problem of Arctic exploration. Keywords: Seismic instrumentation,microseismic monitoring,Peterson model,geological exploration,temperature ratings,cooling test, Refference: I. AD797: Ultralow Distortion, Ultralow Noise Op Amp, Analog Devices, Inc., Data Sheet (Rev. K). Analog Devices, Inc. URL: https://www.analog.com/media/en/technical-documentation/data-sheets/AD797.pdf(Date of access September 2, 2019). II. Agafonov, V. M., Egorov, I. V., and Shabalina, A. S. Operating Principles and Technical Characteristics of a Small-Sized Molecular–Electronic Seismic Sensor with Negative Feedback [Printsipyraboty I tekhnicheskiyekharakteristikimalogabaritnogomolekulyarno-elektronnogoseysmodatchika s otritsatel’noyobratnoysvyaz’yu]. SeysmicheskiyePribory (Seismic Instruments). 2014; 50 (1): 1–8. DOI: 10.3103/S0747923914010022. III. Antonovskaya, G., Konechnaya, Ya.,Kremenetskaya, E., Asming, V., Kvaema, T., Schweitzer, J., Ringdal, F. Enhanced Earthquake Monitoring in the European Arctic. Polar Science. 2015; 1 (9): 158-167. IV. Anthony, R. E., Aster, R. C., Wiens, D., Nyblade, Andr., Anandakrishnan, Sr., Huerta, Audr., Winberry, J. P., Wilson, T., and Rowe, Ch. The Seismic Noise Environment of Antarctica. Seismological Research Letters. 2015; 86(1): 89-100. DOI: 10.1785/0220150005 V. Brincker, R., Lago, T. L., Andersen, P., and Ventura, C. Improving the Classical Geophone Sensor Element by Digital Correction. In Conference Proceedings: IMAC-XXIII: A Conference & Exposition on Structural Dynamics Society for Experimental Mechanics, 2005. URL: https://www.researchgate.net/publication/242452637_Improving_the_Classical_Geophone_Sensor_Element_by_Digital_Correction(Date of access September 2, 2019). VI. Bylaw 164 of the State Committee for Construction of the Russian Federation “On adopting amendments to SNiP 31-01-99 “Construction climatology”. URL: https://base.garant.ru/2322381/(Date of access September 2, 2019). VII. Chao Xu, Junbo Wang, Deyong Chen, Jian Chen, Bowen Liu, Wenjie Qi, XichenZheng, Hua Wei, Guoqing Zhang. The Electrochemical Seismometer Based on a Novel Designed.Sensing Electrode for Undersea Exploration. 20th International Conference on Solid-State Sensors, Actuators and Microsystems &Eurosensors XXXIII (TRANSDUCERS &EUROSENSORS XXXIII). IEEE, 2019. DOI: 10.1109/TRANSDUCERS.2019.8808450. VIII. Chebotareva, I. Ya. New algorithms of emission tomography for passive seismic monitoring of a producing hydrocarbon deposit: Part I. Algorithms of processing and numerical simulation [Novyye algoritmyemissionnoyto mografiidlyapassivnogoseysmicheskogomonitoringarazrabatyvayemykhmestorozhdeniyuglevodorodov. Chast’ I: Algoritmyobrabotki I chislennoyemodelirovaniye]. FizikaZemli. 2010; 46(3):187-98. DOI: 10.1134/S106935131003002X IX. Danilov, A. V. and Konechnaya, Ya. V. Analytical comparison of seismic instruments for stationary surveys in the Arctic [Sravnitel’nyyanalizseysmicheskoyapparaturydlyastatsionarnykhnablyudeniy v Arktike]. DSYS. URL: https://dsys.ru/upload/id254_docPDF_FranzJosefLand.pdf(Date of access September 2, 2019). X. Dew point temperature calculator. Maple Tech. International LLC. URL: https://www.calculator.net/dew-point-calculator.html?airtemperature=20&airtemperatureunit=celsius&humidity=0.34&dewpoint=&dewpointunit=celsius&x=51&y=14(Date of access September 2, 2019). XI. Frolov, A. S. Matching of wave fields recorded by different geophysical receivers [Soglasovaniyevolnovykhpoley, poluchennykh s primeneniyemrazlichnoyregistriruyushcheyapparatury]. Abstracts IX International scientific and technical conference competition of young specialists “Geophysics-2013”. Saint-Petersburg: Gubkin University, 2013. URL: https://www.gubkin.ru/faculty/geology_and_geophysics/chairs_and_departments/exploration_geophysics_and_computers_systems/files/2013_SPb_Frolov.pdf. (Date of access September 2, 2019). XII. Gibbons, S. J., Asming, V., Fedorov, A., Fyen, J., Kero, J., Kozlovskaya, E., Kværna, T., Liszka, L., Näsholm, S.P., Raita, T., Roth, M., Tiira, T., Vinogradov, Yu. The European Arctic: A laboratory for seismoacoustic studies. Seism. Res. Letters. 2015; 86 (3): 917–928. XIII. GOST 8.395-80. State system for ensuring the uniformity of measurements. Reference conditions of measurements while calibrating. General requirements [Gosudarstvennayasistemaobespecheniyaedinstvaizmereniy. Normal’nyyeusloviyaizmereniypripoverke. Obshchiyetrebovaniya]. Moscow: Standartinform, 2008. URL: http://gostrf.com/normadata/1/4294821/4294821960.pdf (Date of access September 2, 2019). XIV. Guralp 6TD. Operators’ Guide. Document Number: MAN-T60-0002, Issue J: April, 2017. Guralp Systems Limited. URL: https://www.guralp.com/documents/MAN-T60-0002.pdf (Date of access September 2, 2019). XV. Inshakova, A. S., Barykina, E. S., and Kozlov, V. V. Role of silica gel in adsorption air drying [Rol’ silikagelya v adsorbtsionnoyosushkevozdukha]. AlleyaNauki (Alley of Science). 2017; 15. URL: https://www.alley- science.ru/domains_data/files/November2017/ROL%20SILIKAGELYa%20V%20ADSORBCIONNOY%20OSUShKE%20VOZDUHA.pdf(Date of access September 2, 2019). XVI. Ioffe, D. and Pozdnyakov, P. Searching for Hidden Reserves of Modern Microchip Circuits. Part I [Poiskskrytykhrezervovsovremennykhmikroskhem. Chast’ I].Komponenty I tekhnologii (Components and Technologies). 2015; 4: 144-46. XVII. Jiang Xu, Xi Wang, Ningyi Yuan, Jianning Ding, Si Qin, Joselito M. Razal, Xuehang Wang, ShanhaiGe, Gogotsi, Yu. Extending the low temperature operational limit of Li-ion battery to −80 °C. Energy Storage Materials (IF0). Published 2019-04-27. DOI: 10.1016/j.ensm.2019.04.033. XVIII. Kouznetsov, O. L., Lyasch, Y. F., Chirkin, I. A., Rizanov, E. G., LeRoy, S. D., Koligaev, S. O. Long-term monitoring of microseismic emissions: Earth tides, fracture distribution, and fluid content. SEG, APPG Interpretation. 2016: 4 (2): T191–T204. XIX. Laverov, N. P., Bogoyavlenskiy, V. I., Bogoyavlenskiy, I. V. Fundamental Aspects of Rational Management of the Petroleum and Gas Resources of the Arctic and the Russian Continental Shelf: Strategy, Prospects, and Problems [Fundamental’nyyeaspektyratsional’nogoosvoyeniyaresursovneftiigazaArktiki I shel’faRossii: strategiya, perspektivyi problem].Arktika: ekologiya I ekonomika [Arctic: Ecology and Economy]. 2016; 2 (22): 4-13. XX. Lee, P. Low Noise Amplifier Selection Guide for Optimal Noise Performance, Analog Devices, Inc., AN-940 Application Note. Analog Devices, Inc. URL: https://www.analog.com/media/en/technical-documentation/application-notes/AN-940.pdf(Date of access September 2, 2019). XXI. Markatis, N., Polychronopoulou, K., Tselentis, Ak. Passive seismic tomography: A passive concept actively evolving. First Break. 2012; 30 (7): 83-90. XXII. Matveev, I. V. and Matveeva, N. V. Portable seismic recorder “SEISAR-5” with very low energy consumption for autonomous work in harsh climatic conditions [Portativnyyseysmicheskiyregistrator «Seysar-5» s ochen’ nizkimenergopotrebleniyemdlyaavtonomnoyraboty v slozhnykhklimatic heskikhusloviyakh]. Nauka I tekhnologicheskierazrabotki (Science and Technological Developments). 2017; 96 (3): 33-40. [Special Issue “Applied Geophysics: New Developments and Results. Part 1. Seismology and Seismic Exploration]. DOI: 10.21455/std2017.3-3. XXIII. Mishra, R. The Temperature Ratings of Electronic Parts.Electronics Cooling magazine. URL: http://www.electronics-cooling.com/2004/02/the-temperature-ratings-of-electronic-parts(Date of access September 2, 2019). XXIV. Moore, Sue E.; Stabeno, Phyllis J.; Van Pelt, Thomas I. The Synthesis of Arctic Research (SOAR) project. Deep-Sea Research Part II. 152: 1-7. DOI: 10.1016/j.dsr2.2018.05.013. XXV. MS-SPORT Viscous Silicone Lubricant with Fluoroplastic. ToR2257-010-45540231-2003. OOO VMPAUTO, URL: https://smazka.ru/attachments/get/469/ms-sport-tds.pdf(Date of access September 2, 2019). XXVI. New Brunswick™ Premium -86 °C Freezers. Operating manual. URL: https://www.eppendorf.com/product-media/doc/en/142770_Operating-Manual/New-Brunswick_Freezers_Operating-manual-86-C-Premium-Freezers.pdf(Date of access September 2, 2019). XXVII. New seismic digitizer/recorder for passive seismic monitoring applications. LandTech Enterprises. URL: http://www.landtechsa.com/Images/Instrument/SRi32L/SRi32L.pdf(Date of access September 2, 2019). XXVIII. Parker, T., Winberry, P., Huerta, A., Bainbridge, G., Devanney, P. Direct Burial Broadband Seismic Instrumentation for Polar Environments. Nanometrics Inc. 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View | Download COMPARATIVE ANALYSIS OF RESULTS OF TREATMENT OF PATIENTS WITH FOOT PATHOLOGY WHO UNDERWENT WEIL OPEN OSTEOTOMY BY CLASSICAL METHOD AND WITHOUT STEOSYNTHESIS Authors: Yuriy V. Lartsev,Dmitrii A. Rasputin,Sergey D. Zuev-Ratnikov,Pavel V.Ryzhov,Dmitry S. Kudashev,Anton A. Bogdanov, DOI: https://doi.org/10.26782/jmcms.spl.10/2020.06.00044 Abstract: The article considers the problem of surgical correction of the second metatarsal bone length. The article analyzes the results of treatment of patients with excess length of the second metatarsal bones that underwent osteotomy with and without osteosynthesis. The results of treatment of patients who underwent metatarsal shortening due to classical Weil-osteotomy with and without osteosynthesis were analyzed. The first group consisted of 34 patients. They underwent classical Weil osteotomy. The second group included 44 patients in whomosteotomy of the second metatarsal bone were not by the screw. When studying the results of the treatment in the immediate postoperative period, weeks 6, 12, slightly better results were observed in patients of the first group, while one year after surgical treatment the results in both groups were comparable. One year after surgical treatment, there were 2.9% (1 patient) of unsatisfactory results in the first group and 4.5% (2 patients) in the second group. Considering the comparability of the results of treatment in remote postoperative period, the choice of concrete method remains with the operating surgeon. Keywords: Flat feet,hallux valgus,corrective osteotomy,metatarsal bones, Refference: I. A novel modification of the Stainsby procedure: surgical technique and clinical outcome [Text] / E. Concannon, R. MacNiocaill, R. Flavin [et al.] // Foot Ankle Surg. – 2014. – Dec., Vol. 20(4). – P. 262–267. II. Accurate determination of relative metatarsal protrusion with a small intermetatarsal angle: a novel simplified method [Text] / L. Osher, M.M. Blazer, S. Buck [et al.] // J. Foot Ankle Surg. – 2014. – Sep.-Oct., Vol. 53(5). – P. 548–556. III. Argerakis, N.G. The radiographic effects of the scarf bunionectomy on rearfoot alignment [Text] / N.G. Argerakis, L.Jr. Weil, L.S. Sr. Weil // Foot Ankle Spec. – 2015. – Apr., Vol. 8(2). – P. 89–94. IV. Bauer, T. Percutaneous forefoot surgery [Text] / T. Bauer // Orthop. Traumatol. Surg. Res. – 2014. – Feb., Vol. 100(1 Suppl.). – P. S191–S204. V. Biomechanical Evaluation of Custom Foot Orthoses for Hallux Valgus Deformity [Text] // J. Foot Ankle Surg. – 2015. – Sep.-Oct., Vol.54(5). – P. 852–855. VI. Chopra, S. Characterization of gait in female patients with moderate to severe hallux valgus deformity [Text] / S. Chopra, K. Moerenhout, X. Crevoisier // Clin. Biomech. (Bristol, Avon). – 2015. – Jul., Vol. 30(6). – P. 629–635. VII. Computer assisted planning and custom-made surgical guide for malunited pronation deformity after first metatarsophalangeal joint arthrodesis in rheumatoid arthritis: a case report [Text] / M. Hirao, S. Ikemoto, H. Tsuboi [et al.] // Comput. Aided Surg. – 2014. – Vol. 19(1-3). – P. 13–19. VIII. Correlation between static radiographic measurements and intersegmental angular measurements during gait using a multisegment foot model [Text] / D.Y. Lee, S.G. Seo, E.J. Kim [et al.] // Foot Ankle Int. – 2015. – Jan., Vol.36(1). – P. 1–10. IX. Correlative study between length of first metatarsal and transfer metatarsalgia after osteotomy of first metatarsal [Text]: [Article in Chinese] / F.Q. Zhang, B.Y. Pei, S.T. Wei [et al.] // Zhonghua Yi XueZaZhi. – 2013. – Nov. 19, Vol. 93(43). – P. 3441–3444. X. Dave, M.H. Forefoot Deformity in Rheumatoid Arthritis: A Comparison of Shod and Unshod Populations [Text] / M.H. Dave, L.W. Mason, K. Hariharan // Foot Ankle Spec. – 2015. – Oct., Vol. 8(5). – P. 378–383. XI. Does arthrodesis of the first metatarsophalangeal joint correct the intermetatarsal M1M2 angle? Analysis of a continuous series of 208 arthrodeses fixed with plates [Text] / F. Dalat, F. Cottalorda, M.H. Fessy [et al.] // Orthop. Traumatol. Surg. Res. – 2015. – Oct., Vol. 101(6). – P. 709–714. XII. Dynamic plantar pressure distribution after percutaneous hallux valgus correction using the Reverdin-Isham osteotomy [Text]: [Article in Spanish] / G. Rodríguez-Reyes, E. López-Gavito, A.I. Pérez-Sanpablo [et al.] // Rev. Invest. Clin. – 2014. – Jul., Vol. 66, Suppl. 1. – P. S79-S84. XIII. Efficacy of Bilateral Simultaneous Hallux Valgus Correction Compared to Unilateral [Text] / A.V. Boychenko, L.N. Solomin, S.G. Parfeyev [et al.] // Foot Ankle Int. – 2015. – Nov., Vol. 36(11). – P. 1339–1343. XIV. Endolog technique for correction of hallux valgus: a prospective study of 30 patients with 4-year follow-up [Text] / C. Biz, M. Corradin, I. Petretta [et al.] // J. OrthopSurg Res. – 2015. – Jul. 2, № 10. – P. 102. XV. First metatarsal proximal opening wedge osteotomy for correction of hallux valgus deformity: comparison of straight versus oblique osteotomy [Text] / S.H. Han, E.H. Park, J. Jo [et al.] // Yonsei Med. J. – 2015. – May, Vol. 56(3). – P. 744–752. XVI. Long-term outcome of joint-preserving surgery by combination metatarsal osteotomies for shortening for forefoot deformity in patients with rheumatoid arthritis [Text] / H. Niki, T. Hirano, Y. Akiyama [et al.] // Mod. Rheumatol. – 2015. – Sep., Vol. 25(5). – P. 683–638. XVII. Maceira, E. Transfer metatarsalgia post hallux valgus surgery [Text] / E. Maceira, M. Monteagudo // Foot Ankle Clin. – 2014. – Jun., Vol. 19(2). – P.285–307. XVIII. Nielson, D.L. Absorbable fixation in forefoot surgery: a viable alternative to metallic hardware [Text] / D.L. Nielson, N.J. Young, C.M. Zelen // Clin. Podiatr. Med. Surg. – 2013. – Jul., Vol. 30(3). – P. 283–293 XIX. Patient’s satisfaction after outpatient forefoot surgery: Study of 619 cases [Text] / A. Mouton, V. Le Strat, D. Medevielle [et al.] // Orthop. Traumatol. Surg. Res. – 2015. – Oct., Vol. 101(6 Suppl.). – P. S217–S220. XX. Preference of surgical procedure for the forefoot deformity in the rheumatoid arthritis patients–A prospective, randomized, internal controlled study [Text] / M. Tada, T. Koike, T. Okano [et al.] // Mod. Rheumatol. – 2015. – May., Vol. 25(3). – P.362–366. XXI. Redfern, D. Percutaneous Surgery of the Forefoot [Text] / D. Redfern, J. Vernois, B.P. Legré // Clin. Podiatr. Med. Surg. – 2015. – Jul., Vol. 32(3). – P. 291–332. XXII. Singh, D. Bullous pemphigoid after bilateral forefoot surgery [Text] / D. Singh, A. Swann // Foot Ankle Spec. – 2015. – Feb., Vol. 8(1). – P. 68–72. XXIII. Treatment of moderate hallux valgus by percutaneous, extra-articular reverse-L Chevron (PERC) osteotomy [Text] / J. Lucas y Hernandez, P. Golanó, S. Roshan-Zamir [et al.] // Bone Joint J. – 2016. – Mar., Vol. 98-B(3). – P. 365–373. XXIV. Weil, L.Jr. Scarf osteotomy for correction of hallux abducto valgus deformity [Text] / L.Jr. Weil, M. Bowen // Clin. Podiatr. Med. Surg. – 2014. – Apr., Vol.31(2). – P. 233–246. View | Download QUANTITATIVE ULTRASONOGRAPHY OF THE STOMACH AND SMALL INTESTINE IN HEALTHYDOGS Authors: Roman A. Tcygansky,Irina I. Nekrasova,Angelina N. Shulunova,Alexander I.Sidelnikov, DOI: https://doi.org/10.26782/jmcms.spl.10/2020.06.00045 Abstract: Purpose.To determine the quantitative echogenicity indicators (and their ratio) of the layers of stomach and small intestine wall in healthy dogs. Methods. A prospective 3-year study of 86 healthy dogs (aged 1-7 yrs) of different breeds and of both sexes. Echo homogeneity and echogenicity of the stomach and intestines wall were determined by the method of Silina, T.L., et al. (2010) in absolute values of average brightness levels of ultrasound image pixels using the 8-bit scale with 256 shades of gray. Results. Quantitative echogenicity indicators of the stomach and the small intestine wall in dogs were determined. Based on the numerical values characterizing echogenicity distribution in each layer of a separate structure of the digestive system, the coefficient of gastric echogenicity is determined as 1:2.4:1.1 (mucosa/submucosa/muscle layers, respectively), the coefficient of duodenum and jejunum echogenicity is determined as 1:3.5:2 and that of ileum is 1:1.8:1. Clinical significance. The echogenicity coefficient of the wall of the digestive system allows an objective assessment of the stomach and intestines wall and can serve as the basis for a quantitative assessment of echogenicity changes for various pathologies of the digestive system Keywords: Ultrasound (US),echogenicity,echogenicity coefficient,digestive system,dogs,stomach,intestines, Refference: I. Agut, A. Ultrasound examination of the small intestine in small animals // Veterinary focus. 2009.Vol. 19. No. 1. P. 20-29. II. Bull. 4.RF patent 2398513, IPC51A61B8 / 00 A61B8 / 14 (2006.01) A method for determining the homoechogeneity and the degree of echogenicity of an ultrasound image / T. Silina, S. S. Golubkov. – No. 2008149311/14; declared 12/16/2008; publ. 09/10/2010 III. Choi, M., Seo, M., Jung, J., Lee, K., Yoon, J., Chang, D., Park, RD. Evaluation of canine gastric motility with ultrasonography // J. of Veterinary Medical Science. – 2002. Vol. 64. – № 1. – P. 17-21. IV. Delaney, F., O’Brien, R.T., Waller, K.Ultrasound evaluation of small bowel thickness compared to weight in normal dogs // Veterinary Radiology and Ultrasound. 2003 Vol. 44, № 5. Р 577-580. V. Diana, A., Specchi, S., Toaldo, M.B., Chiocchetti, R., Laghi, A., Cipone, M. Contrast-enhanced ultrasonography of the small bowel in healthy cats // Veterinary Radiology and Ultrasound. – 2011. – Vol. 52, № 5. – Р. 555-559. VI. Garcia, D.A.A., Froes, T.R. Errors in abdominal ultrasonography in dogs and cats // J. of Small Animal Practice. – 2012. Vol. 53. – № 9. – P. 514-519. VII. Garcia, D.A.A., Froes, T.R. Importance of fasting in preparing dogs for abdominal ultrasound examination of specific organs // J. of Small Animal Practice. – 2014. Vol. 55. – № 12. – P. 630-634. VIII. Gaschen, L., Granger, L.A., Oubre, O., Shannon, D., Kearney, M., Gaschen, F. The effects of food intake and its fat composition on intestinal echogenicity in healthy dogs // Veterinary Radiology and Ultrasound. 2016. Vol. 57. № 5. P. 546-550 IX. Gaschen, L., Kircher, P., Stussi, A., Allenspach, K., Gaschen, F., Doherr, M., Grone, A. Comparison of ultrasonographic findings with clinical activity index (CIBDAI) and diagnosis in dogs with chronic enteropathies // Veterinary radiology and ultrasound. – 2008. – Vol. 49. – № 1. – Р. 56-64. X. Gil, E.M.U. Garcia, D.A.A. Froes, T.R. In utero development of the fetal intestine: Sonographic evaluation and correlation with gestational age and fetal maturity in dogs // Theriogenology. 2015. Vol. 84, №5. Р. 681-686. XI. Gladwin, N.E. Penninck, D.G., Webster, C.R.L. Ultrasonographic evaluation of the thickness of the wall layers in the intestinal tract of dogs // American Journal of Veterinary Research. 2014. Vol. 75, №4. Р. 349-353. XII. Gory, G., Rault, D.N., Gatel, L, Dally, C., Belli, P., Couturier, L., Cauvin, E. Ultrasonographic characteristics of the abdominal esophagus and cardia in dogs // Veterinary Radiology and Ultrasound. 2014. Vol. 55, № 5. P. 552-560. XIII. Günther, C.S. Lautenschläger, I.E., Scholz, V.B. Assessment of the inter- and intraobserver variability for sonographical measurement of intestinal wall thickness in dogs without gastrointestinal diseases | [Inter-und Intraobserver-Variabilitätbei der sonographischenBestimmung der Darmwanddicke von HundenohnegastrointestinaleErkrankungen] // Tierarztliche Praxis Ausgabe K: Kleintiere – Heimtiere. 2014. Vol. 42 №2. Р. 71-78. XIV. Hanazono, K., Fukumoto, S., Hirayama, K., Takashima, K., Yamane, Y., Natsuhori, M., Kadosawa, T., Uchide, T. Predicting Metastatic Potential of gastrointestinal stromal tumors in dog by ultrasonography // J. of Veterinary Medical Science. – 2012. Vol. 74. – № 11. – P. 1477-1482. XV. Heng, H.G., Lim, Ch.K., Miller, M.A., Broman, M.M.Prevalence and significance of an ultrasonographic colonic muscularishyperechoic band paralleling the serosal layer in dogs // Veterinary Radiology and Ultrasound. 2015. Vol. 56 № 6. P. 666-669. XVI. Ivančić, M., Mai, W. Qualitative and quantitative comparison of renal vs. hepatic ultrasonographic intensity in healthy dogs // Veterinary Radiology and Ultrasound. 2008. Vol. 49. № 4. Р. 368-373. XVII. Lamb, C.R., Mantis, P. Ultrasonographic features of intestinal intussusception in 10 dogs // J. of Small Animal Practice. – 2008. Vol. 39. – № 9. – P. 437-441. XVIII. Le Roux, A. B., Granger, L.A., Wakamatsu, N, Kearney, M.T., Gaschen, L.Ex vivo correlation of ultrasonographic small intestinal wall layering with histology in dogs // Veterinary Radiology and Ultrasound.2016. Vol. 57. № 5. P. 534-545. XIX. Nielsen, T. High-frequency ultrasound of Peyer’s patches in the small intestine of young cats / T. Nielsen [et al.] // Journal of Feline Medicine and Surgery. – 2015. – Vol. 18, № 4. – Р. 303-309. XX. PenninckD.G. Gastrointestinal tract. In Nyland T.G., Mattoon J.S. (eds): Small Animal Diagnostic Ultrasound. Philadelphia: WB Saunders. 2002, 2nd ed. Р. 207-230. XXI. PenninckD.G. Gastrointestinal tract. In: PenninckD.G.,d´Anjou M.A. Atlas of Small Animal Ultrasonography. Blackwell Publishing, Iowa. 2008. Р. 281-318. XXII. Penninck, D.G., Nyland, T.G., Kerr, L.Y., Fisher, P.E. Ultrasonographic evaluation of gastrointestinal diseases in small animals // Veterinary Radiology. 1990. Vol. 31. №3. P. 134-141. XXIII. Penninck, D.G.,Webster, C.R.L.,Keating, J.H. The sonographic appearance of intestinal mucosal fibrosis in cats // Veterinary Radiology and Ultrasound. – 2010. – Vol. 51, № 4. – Р. 458-461. XXIV. Pollard, R.E.,Johnson, E.G., Pesavento, P.A., Baker, T.W., Cannon, A.B., Kass, P.H., Marks, S.L. Effects of corn oil administered orally on conspicuity of ultrasonographic small intestinal lesions in dogs with lymphangiectasia // Veterinary Radiology and Ultrasound. 2013. Vol. 54. № 4. P. 390-397. XXV. Rault, D.N., Besso, J.G., Boulouha, L., Begon, D., Ruel, Y. Significance of a common extended mucosal interface observed in transverse small intestine sonograms // Veterinary Radiology and Ultrasound. 2004. Vol. 45. №2. Р. 177-179. XXVI. Sutherland-Smith, J., Penninck, D.G., Keating, J.H., Webster, C.R.L. Ultrasonographic intestinal hyperechoic mucosal striations in dogs are associated with lacteal dilation // Veterinary Radiology and Ultrasound. – 2007. Vol. 48. – № 1. – P. 51-57. View | Download EVALUATION OF ADAPTIVE POTENTIAL IN MEDICAL STUDENTS IN THE CONTEXT OF SEASONAL DYNAMICS Authors: Larisa A. Merdenova,Elena A. Takoeva,Marina I. Nartikoeva,Victoria A. Belyayeva,Fatima S. Datieva,Larisa R. Datieva, DOI: https://doi.org/10.26782/jmcms.spl.10/2020.06.00046 Abstract: The aim of this work was to assess the functional reserves of the body to quantify individual health; adaptation, psychophysiological characteristics of the health quality of medical students in different seasons of the year. When studying the temporal organization of physiological functions, the rhythm parameters of physiological functions were determined, followed by processing the results using the Cosinor Analysis program, which reveals rhythms with an unknown period for unequal observations, evaluates 5 parameters of sinusoidal rhythms (mesor, amplitude, acrophase, period, reliability). The essence of desynchronization is the mismatch of circadian rhythms among themselves or destruction of the rhythms architectonics (instability of acrophases or their disappearance). Desynchronization with respect to the rhythmic structure of the body is of a disregulatory nature, most pronounced in pathological desynchronization. High neurotism, increased anxiety reinforces the tendency to internal desynchronization, which increases with stress. During examination stress, students experience a decrease in the stability of the temporary organization of the biosystem and the tension of adaptive mechanisms develops, which affects attention, mental performance and the quality of adaptation to the educational process. Time is shortened and the amplitude of the “initial minute” decreases, personal and situational anxiety develops, and the level of psychophysiological adaptation decreases. The results of the work are priority because they can be used in assessing quality and level of health. Keywords: Desynchronosis,biorhythms,psycho-emotional stress,mesor,acrophase,amplitude,individual minute, Refference: I. Arendt, J., Middleton, B. Human seasonal and circadian studies in Antarctica (Halley, 75_S) – General and Comparative Endocrinology. 2017: 250-259. (http://dx.doi.org/10.1016/j.ygcen.2017.05.010). II. BalandinYu.P. A brief methodological guide on the use of the agro-industrial complex “Health Sources” / Yu.P. Balandin, V.S. Generalov, V.F. Shishlov. Ryazan, 2007. III. Buslovskaya L.K. Adaptation reactions in students at exam stress/ L.K. Buslovskaya, Yu.P. Ryzhkova. Scientific bulletin of Belgorod State University. Series: Natural Sciences. 2011;17(21):46-52. IV. Chutko L. S. Sindromjemocionalnogovygoranija – Klinicheskie I psihologicheskieaspekty./ L.S Chutko. Moscow: MEDpress-inform, 2013. V. Eroshina K., Paul Wilkinson, Martin Mackey. The role of environmental and social factors in the occurrence of diseases of the respiratory tract in children of primary school age in Moscow. Medicine. 2013:57-71. VI. Fagrell B. “Microcirculation of the Skin”. The physiology and pharmacology of the microcirculation. 2013:423. VII. Gurova O.A. Change in blood microcirculation in students throughout the day. New research. 2013; 2 (35):66-71. VIII. Khetagurova L.G. – Stress/Ed. L.G. Khetagurov. Vladikavkaz: Project-Press Publishing House, 2010. IX. Khetagurova L.G., Urumova L.T. et al. Stress (chronomedical aspects). International Journal of Experimental Education 2010; 12: 30-31. X. Khetagurova L.G., Salbiev K.D., Belyaev S.D., Datieva F.S., Kataeva M.R., Tagaeva I.R. Chronopathology (experimental and clinical aspects/ Ed. L.G. Khetagurov, K.D. Salbiev, S.D.Belyaev, F.S. Datiev, M.R. Kataev, I.R. Tagaev. Moscow: Science, 2004. XI. KlassinaS.Ya. Self-regulatory reactions in the microvasculature of the nail bed of fingers in person with psycho-emotional stress. Bulletin of new medical technologies, 2013; 2 (XX):408-412. XII. Kovtun O.P., Anufrieva E.V., Polushina L.G. Gender-age characteristics of the component composition of the body in overweight and obese schoolchildren. Medical Science and Education of the Urals. 2019; 3:139-145. XIII. Kuchieva M.B., Chaplygina E.V., Vartanova O.T., Aksenova O.A., Evtushenko A.V., Nor-Arevyan K.A., Elizarova E.S., Efremova E.N. A comparative analysis of the constitutional features of various generations of healthy young men and women in the Rostov Region. Modern problems of science and education. 2017; 5:50-59. XIV. Mathias Adamsson1, ThorbjörnLaike, Takeshi Morita – Annual variation in daily light expo-sure and circadian change of melatonin and cortisol consent rations at a northern latitude with large seasonal differences in photoperiod length – Journal of Physiological Anthropology. 2017; 36: 6 – 15. XV. Merdenova L.A., Tagaeva I.R., Takoeva E.A. Features of the study of biological rhythms in children. The results of fundamental and applied research in the field of natural and technical sciences. Materials of the International Scientific and Practical Conference. Belgorod, 2017, pp. 119-123. XVI. Ogarysheva N.V. The dynamics of mental performance as a criterion for adapting to the teaching load. Bulletin of the Samara Scientific Center of the Russian Academy of Sciences. 2014;16:5 (1): S.636-638. XVII. Pekmezovi T. Gene-environment interaction: A genetic-epidemiological approach. Journal of Medical Biochemistry. 2010;29:131-134. XVIII. Rapoport S.I., Chibisov S.M. Chronobiology and chronomedicine: history and prospects/Ed. S.M. Chibisov, S.I. Rapoport ,, M.L. Blagonravova. Chronobiology and Chronomedicine: Peoples’ Friendship University of Russia (RUDN) Press. Moscow, 2018. XIX. Roustit M., Cracowski J.L. “Non-invasive assessment of skin microvascular function in humans: an insight into methods” – Microcirculation 2012; 19 (1): 47-64. XX. Rud V.O., FisunYu.O. – References of the circadian desinchronosis in students. Ukrainian Bulletin of Psychoneurology. 2010; 18(2) (63): 74-77. XXI. Takoeva Z. A., Medoeva N. O., Berezova D. T., Merdenova L. A. et al. Long-term analysis of the results of chronomonitoring of the health of the population of North Ossetia; Vladikavkaz Medical and Biological Bulletin. 2011; 12(12,19): 32-38. XXII. Urumova L.T., Tagaeva I.R., Takoeva E.A., Datieva L.R. – The study of some health indicators of medical students in different periods of the year. Health and education in the XXI century. 2016; 18(4): 94-97. XXIII. Westman J. – Complex diseases. In: Medical genetics for the modern clinician. USA: Lippincott Williams & Wilkins, 2006. XXIV. Yadrischenskaya T.V. Circadian biorhythms of students and their importance in educational activities. Problems of higher education. Pacific State University Press. 2016; 2:176-178. View | Download TRIADIC COMPARATIVE ANALYSIS Authors: Stanislav A.Kudzh,Victor Ya. Tsvetkov, DOI: https://doi.org/10.26782/jmcms.spl.10/2020.06.00047 Abstract: The present study of comparison methods based on the triadic model introduces the following concepts: the relation of comparability and the relation of comparison, and object comparison and attributive comparison. The difference between active and passive qualitative comparison is shown, two triadic models of passive and active comparison and models for comparing two and three objects are described. Triadic comparison models are proposed as an alternative to dyadic comparison models. Comparison allows finding the common and the different; this approach is proposed for the analysis of the nomothetic and ideographic method of obtaining knowledge. The nomothetic method identifies and evaluates the general, while the ideographic method searches for unique in parameters and in combinations of parameters. Triadic comparison is used in systems and methods of argumentation, as well as in the analysis of consistency/inconsistency. Keywords: Comparative analysis,dyad,triad,triadic model,comparability relation,object comparison,attributive comparison,nomothetic method,ideographic method, Refference: I. AltafS., Aslam.M.Paired comparison analysis of the van Baarenmodel using Bayesian approach with noninformativeprior.Pakistan Journal of Statistics and Operation Research 8(2) (2012) 259{270. II. AmooreJ. 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PührerJ.Realizability of three-valued semantics for abstract dialectical frameworks.Artificial Intelligence 278 (2020) 103{198. XVII. SwansonG.Frameworks for comparative research: structural anthropology and the theory of action. In: Vallier, Ivan (Ed.). Comparative methods in sociology: essays on trends and applications.Berkeley: University of California Press, 1971 141{202. XVIII. TsvetkovV.Ya.Worldview model as the result of education.World Applied Sciences Journal 31(2) (2014) 211{215. XIX. TsvetkovV. Ya. Logical analysis and variable scales. Slavic Forum 4(22) (2018) 103{109. XX. Wang S. et al. Transit traffic analysis zone delineating method based on Thiessen polygon. Sustainability 6(4) (2014) 1821{1832. View | Download DEVELOPING TECHNOLOGY OF CREATING WEAR-RESISTANT CERAMIC COATING FOR ICE CYLINDER." JOURNAL OF MECHANICS OF CONTINUA AND MATHEMATICAL SCIENCES spl10, no. 1 (June 28, 2020). http://dx.doi.org/10.26782/jmcms.spl.10/2020.06.00048.

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