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1
Daish, Tasman, Aaron Casey, and Frank Grützner. "Platypus chain reaction: directional and ordered meiotic pairing of the multiple sex chromosome chain in Ornithorhynchus anatinus." Reproduction, Fertility and Development 21, no. 8 (2009): 976. http://dx.doi.org/10.1071/rd09085.
Повний текст джерелаАнотація:
Monotremes are phylogenetically and phenotypically unique animals with an unusually complex sex chromosome system that is composed of ten chromosomes in platypus and nine in echidna. These chromosomes are alternately linked (X1Y1, X2Y2, …) at meiosis via pseudoautosomal regions and segregate to form spermatozoa containing either X or Y chromosomes. The physical and epigenetic mechanisms involved in pairing and assembly of the complex sex chromosome chain in early meiotic prophase I are completely unknown. We have analysed the pairing dynamics of specific sex chromosome pseudoautosomal regions in platypus spermatocytes during prophase of meiosis I. Our data show a highly coordinated pairing process that begins at the terminal Y5 chromosome and completes with the union of sex chromosomes X1Y1. The consistency of this ordered assembly of the chain is remarkable and raises questions about the mechanisms and factors that regulate the differential pairing of sex chromosomes and how this relates to potential meiotic silencing mechanisms and alternate segregation.
2
Luykx, Peter. "Variation in sex-linked interchange heterozygosity in the termite Incisitermes schwarzi Banks (Insecta: Isoptera) on the island of Jamaica." Genome 29, no. 2 (April 1, 1987): 319–25. http://dx.doi.org/10.1139/g87-052.
Повний текст джерелаАнотація:
Collections of colonies of the termite Incisitermes schwarzi from mangroves around the coast of Jamaica revealed six chromosomal types, all involving variations or rearrangements of the sex chromosomes. One of the types had a heteromorphic sex bivalent in which the Y chromosome was larger than the X. The other five races had complex interchange multiples: a chain of 11, a chain of 12, a ring of 12, a ring of 14, and a ring of 18 chromosomes. The situation is similar to that described previously for Kalotermes approximatus, another member of the family Kalotermitidae, in the southeastern United States. The different chromosomal types can be arranged in an evolutionary series, each step requiring an interchange or fusion between an autosome and a previously existing sex chromosome. Such polymorphic chromosome systems, containing Y-segregating elements of different evolutionary ages, may offer an unusual opportunity for studying the sequence of changes accompanying the evolution of Y chromosomes. Key words: termite, Incisitermes, sex-linkage, translocation, interchange, Jamaica.
3
Grutzner, F., A. Casey, and T. Daish. "105. MEIOTIC ACROBATS: MONOTREME SEX CHROMOSOME ORGANISATION DURING SPERMATOGENESIS." Reproduction, Fertility and Development 22, no. 9 (2010): 23. http://dx.doi.org/10.1071/srb10abs105.
Повний текст джерелаАнотація:
Monotremes feature an extraordinarily complex sex chromosome system which shares extensive homology with bird sex chromosomes but no homology to sex chromosomes of other mammals (1,2,3). At meiotic prophase I the ten sex chromosomes in platypus (nine in echidna) assemble in a sex chromosome chain. We previously identified the multiple sex chromosomes in platypus and echidna that form the meiotic chain in males (1,2,4). We showed that sex chromosomes assembly in the chain in a specific order (5) and that they segregate alternately (1). In secondary spermatocytes we observed clustering of X and Y chromosomes in sperm (6). Our current research investigates the formation of the synaptonemal complex, recombination and meiotic silencing of monotreme sex chromosomes. Meiotic sex chromosome inactivation (MSCI) has been observed in eutherian mammals, marsupials and birds but has so far not been investigated experimentally in monotremes. We found that during pachytene the X5Y5 end of the chain closely associates with the nucleolus and accumulates repressive chromatin marks (e.g. histone variant mH2A). In contrast to the differential accumulation of mH2A we observe extensive loading of the cohesin SMC3 on sex chromosomes in particular during the pachytene stage of meiotic prophase I. We have also used markers of active transcription and gene expression analysis to investigate gene activity in platypus meiotic cells. I will discuss how these findings contribute to our current understanding of the meiotic organisation of monotreme sex chromosomes and the evolution of MSCI in birds and mammals. (1) Grützner et al. (2004), Nature 432: 913–917.(2) Rens et al. (2007), Genome Biology 16;8(11): R243.(3) Veyrunes et al. (2008), Genome Research, 18(6): 995–1004.(4) Rens et al. (2004), Proceedings of the National Academy of Sciences USA. 101 (46): 16 257–16 261.(5) Daish et al. (2009), Reprod Fertil Dev. 21(8): 976–84.(6) Tsend-Ayush et al. (2009), Chromosoma 118(1): 53–69.
4
Scutt, Charles P., Yasuko Kamisugi, Philip M. Gilmartin, and Fukumi Sakai. "Laser isolation of plant sex chromosomes: studies on the DNA composition of the X and Y sex chromosomes of Silene latifolia." Genome 40, no. 5 (October 1, 1997): 705–15. http://dx.doi.org/10.1139/g97-793.
Повний текст джерелаАнотація:
X and Y sex chromosomes from the dioecious plant Silene latifolia (white campion) were isolated from mitotic metaphase chromosome preparations on polyester membranes. Autosomes were ablated using an argon ion laser microbeam and isolated sex chromosomes were then recovered on excised fragments of polyester membrane. Sex chromosome associated DNA sequences were amplified using the degenerate oligonucleotide primed polymerase chain reaction (DOP–PCR) and pools of DOP–PCR products were used to investigate the genomic organization of the S. latifolia sex chromosomes. The chromosomal locations of cloned sex chromosome repeat sequences were analysed by fluorescence in situ hybridization and data complementary to laser ablation studies were obtained by genomic in situ hybridization. In combination, these studies demonstrate that the X and Y sex chromosomes of S. latifolia are of very similar DNA composition and also that they share a significant repetitive DNA content with the autosomes. The evolution of sex chromosomes in Silene is discussed and compared with that in another dioecious species, Rumex acetosa.Key words: FISH, GISH, laser-microdissection, sex chromosome, Silene latifolia.
5
Traut, W. "Sex determination in the fly Megaselia scalaris, a model system for primary steps of sex chromosome evolution." Genetics 136, no. 3 (March 1, 1994): 1097–104. http://dx.doi.org/10.1093/genetics/136.3.1097.
Повний текст джерелаАнотація:
Abstract The fly Megaselia scalaris Loew possesses three homomorphic chromosome pairs; 2 is the sex chromosome pair in two wild-type laboratory stocks of different geographic origin (designated "original" sex chromosome pair in this paper). The primary male-determining function moves at a very low rate to other chromosomes, thereby creating new Y chromosomes. Random amplified polymorphic DNA markers obtained by polymerase chain reaction with single decamer primers and a few available phenotypic markers were used in testcrosses to localize the sex-determining loci and to define the new sex chromosomes. Four cases are presented in which the primary male-determining function had been transferred from the original Y chromosome to a new locus either on one of the autosomes or on the original X chromosome, presumably by transposition. In these cases, the sex-determining function had moved to a different locus without an obvious cotransfer of other Y chromosome markers. Thus, with Megaselia we are afforded an experimental system to study the otherwise hypothetical primary stages of sex chromosome evolution. An initial molecular differentiation is apparent even in the new sex chromosomes. Molecular differences between the original X and Y chromosomes illustrate a slightly more advanced stage of sex chromosome evolution.
6
Oh, Sooeun, Kyoungmi Min, Myungshin Kim, and Suk Kyeong Lee. "Sex Chromosomes Are Severely Disrupted in Gastric Cancer Cell Lines." International Journal of Molecular Sciences 21, no. 13 (June 28, 2020): 4598. http://dx.doi.org/10.3390/ijms21134598.
Повний текст джерелаАнотація:
Sex has not received enough attention as an important biological variable in basic research, even though the sex of cells often affects cell proliferation, differentiation, apoptosis, and response to stimulation. Knowing and considering the sex of cells used in basic research is essential as preclinical and clinical studies are planned based on basic research results. Cell lines derived from tumor have been widely used for proof-of-concept experiments. However, cell lines may have limitations in testing the effect of sex on cell level, as chromosomal abnormality is the single most characteristic feature of tumor. To examine the status of sex chromosomes in a cell line, 12 commercially available gastric carcinoma (GC) cell lines were analyzed using several different methods. Loss of Y chromosome (LOY) accompanied with X chromosome duplication was found in three (SNU-484, KATO III, and MKN-1) out of the six male-derived cell lines, while one cell line (SNU-638) showed at least partial deletion in the Y chromosome. Two (SNU-5 and MKN-28) out of six female-derived cell lines showed a loss of one X chromosome, while SNU-620 gained one extra copy of the X chromosome, resulting in an XXX karyotype. We found that simple polymerase chain reaction (PCR)-based sex determination gives a clue for LOY for male-derived cells, but it does not provide detailed information for the gain or loss of the X chromosome. Our results suggest that carefully examining the sex chromosome status of cell lines is necessary before using them to test the effect of sex on cell level.
7
Kortschak, R. Daniel, Enkhjargal Tsend-Ayush, and Frank Grützner. "Analysis of SINE and LINE repeat content of Y chromosomes in the platypus, Ornithorhynchus anatinus." Reproduction, Fertility and Development 21, no. 8 (2009): 964. http://dx.doi.org/10.1071/rd09084.
Повний текст джерелаАнотація:
Monotremes feature an extraordinary sex-chromosome system that consists of five X and five Y chromosomes in males. These sex chromosomes share homology with bird sex chromosomes but no homology with the therian X. The genome of a female platypus was recently completed, providing unique insights into sequence and gene content of autosomes and X chromosomes, but no Y-specific sequence has so far been analysed. Here we report the isolation, sequencing and analysis of ~700 kb of sequence of the non-recombining regions of Y2, Y3 and Y5, which revealed differences in base composition and repeat content between autosomes and sex chromosomes, and within the sex chromosomes themselves. This provides the first insights into repeat content of Y chromosomes in platypus, which overall show similar patterns of repeat composition to Y chromosomes in other species. Interestingly, we also observed differences between the various Y chromosomes, and in combination with timing and activity patterns we provide an approach that can be used to examine the evolutionary history of the platypus sex-chromosome chain.
8
Fathurrahman, I., A. Kusumawati, A. Rahman, Y. Ulviani, K. D. Prihantoko, and L. Unsunnidhal. "Molecular sexing in Bos taurus using quantitative polymerase chain reaction (qPCR) method." IOP Conference Series: Earth and Environmental Science 976, no. 1 (February 1, 2022): 012002. http://dx.doi.org/10.1088/1755-1315/976/1/012002.
Повний текст джерелаАнотація:
Abstract Cattle are animals that are widely found all over the world which is the domestication of bulls. In Indonesia, domesticated cattle are used as livestock, could be meat cattle or dairy cattle. The sex of the cattle is very influential in terms of selling, especially the type of bull. Calf bull is a product of the process of artificial insemination with spermatozoa resulting in sexing. Mammals have X and Y chromosomes to distinguish their sex. Each chromosome has a special gene such as the SRY gene on the Y chromosome and the PLP gene on the X chromosome. Molecular methods are effective methods of determining the chromosomes carried by spermatozoa. Both special genes are found in the home box (GADPH) of mammals. Primer is made from the mRNA SRY (sex-determining region Y) sequence from Bos taurus with a size above 200bp (SRY B) and below 200bp (SRY A) so that optimal results are obtained between the two. The type of sample that has been used in this research was sexing semen from limousin bulls that are treated from 4 pairs of primers each. The results of the qPCR from both primers are viewed from the melt-peak graph and comparison analysis. The differences between SRY A and SRY-B primer indicates that SRY-A produces a more stable melt-peak graph than SRY B. This indicates that the SRY A primer is more stable when used for molecular verification processes using qPCR.
9
Sispita Sari, Yeti Eka. "Spot Urine for Sex Determination Forensic Identifications with Amelogenin Locus and Y chromosomes (DYS 19). Bercak Urin untuk Identifikasi Forensik Jenis Kelamin dengan Lokus Amelogenin dan Y Kromosom (DYS19)." Jurnal Biosains Pascasarjana 20, no. 3 (December 31, 2018): 180. http://dx.doi.org/10.20473/jbp.v20i3.2018.180-193.
Повний текст джерелаАнотація:
AbstractBackground: Amelogenin gene was a single copy gene located in an X chromosome and a Y chromosome. The location of amelogenin gene for identification of sex chromosome has good variability between the form and the shape of the X chromosome and the Y chromosome and between Amelogenin alleles among different populations. Purpose: To prove urine spot examination on the results of the sex determination through Deoxyribo Nucleid Acid (DNA) isolation using amelogenin and Y chromosome loci (DYS19). Methods: Spotting the microscopic examination of urine samples to determine the presence or absence of urethral epithelial cells, followed by isolation Deoxyribo nucleid Acid (DNA) in order to determine the extent and purity of DNA amplification. Then performed Polymerase Chain Reaction (PCR) amelogenin locus at 106bp - 112bp and Y chromosomes (DYS19) at 232 -268 bp. Results: in 9 samples of men from 3 families with 3 kinship of different regions shows the results of different tests, because Amel Y variation between individual and populations method of determining the sex of 100% was inaccurate. In some men Amel Y can be removed entirely. This research should be visualized one band on the Y chromosome (DYS19) and the Amelogenin two bands during electrophoresis occurs misidentification of the sample as a woman. Conclusions: Identification of sex using Amelogenin locus and Y chromosomes (DYS19) has six identical and ambiguous results because the two samples shown as the sign of men but visualized as women, another sample was not visualized because of the thick level and concentration of Deoxyribo nucleid Acid (DNA).Keywords: Urine Spot, Sex Determination, Amelogenin, Y chromosome (DYS19).
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Dyah Argarini, Azalea, Herjuno Ari Nugroho, Medania Purwaningrum, and Aris Haryanto. "Molecular Bird Sexing on Fischeri Lovebird (Agapornis fischeri) by Using Polymerase Chain Reaction." BIO Web of Conferences 20 (2020): 04003. http://dx.doi.org/10.1051/bioconf/20202004003.
Повний текст джерелаАнотація:
Fischeri Lovebird (Agapornis fischeri) found originally in Africa which has spread to many countries. In Indonesia, Fischeri Lovebird is popular as a pet animal. This lovebird is a monomorphic bird, so it is difficult to differentiate morphologically between male and female birds. In general, a male lovebird has ZZ homozygotes, whereas females' lovebird has ZW heterozygous of their sex chromosome. These sex chromosomes set used as study targets for molecular bird sexing of many species of birds because this method is effective and simple to perform. This method targeted to amplify the Chromodomain Helicase DNA-binding (CHD) gene, which found into the sex chromosome of male and female birds. The objective of this study was to rapid molecular bird sexing of Fischeri Lovebird by using PCR methods. Research samples were collected from feather calamus of A. fischeri. The total sample was 11 feathers from A. fischeri. which were collected three to six feathers for each lovebird. Then the research was followed by DNA extraction from calamus feathers, DNA amplification by PCR and agarose gel electrophoresis of PCR products and visualization of PCR predicts by UV-Transilluminator in darkroom. It concluded that PCR amplification using NP, MP and P2 primers produced double DNA bands in size of 400 bp on Z chromosome and bp on W chromosome for female Fischeri Lovebird, whereas for male Fischeri Lovebird only produced a single DNA band in size of 400 bp on Z chromosome. From eleven samples of Fischeri Lovebird showed a total of five females and six male Fischeri Lovebirds.
11
Lungeanu, A., A. Arghir, S. Arps, G. Cardos, N. Dumitriu, M. Budisteanu, S. Chirieac, and A. Rodewald. "Chromosome Y Isodicentrics in two Cases with Ambiguous genitalia and Features of Turner Syndrome." Balkan Journal of Medical Genetics 11, no. 2 (January 1, 2008): 51–58. http://dx.doi.org/10.2478/v10034-008-0024-y.
Повний текст джерелаАнотація:
Chromosome Y Isodicentrics in two Cases with Ambiguous genitalia and Features of Turner SyndromeKaryotype investigations using classical cytogenetics, fluorescencein situhybridization (FISH) and polymerase chain reaction (PCR) techniques were used for the characterization of Y chromosome structural anomalies found in two patients with ambiguous genitalia and features of Turner syndrome. Both exhibited mosaic karyotypes of peripheral blood lymphocytes. The karyotype was 45, X[90]/ 46, X, idic(Y)(p11.3).ish idic(Y) (wcpY+, DXYS130++,SRY++,DYZ3++,DYZ1++, DYS224++)[10] in one case, and the karyotype was 45, X[65]/46, X, idic(Y) (q11).ish idic(Y)(SRY++, RP11-140H23-)[35] in the other case. Derivative Y chromosomes were different in shape and size and positive for the SRY gene, a common underlying element of ambiguous genitalia phenotypes. These results add new information concerning the role of Y chromosome structural abnormalities in sex determination pathway perturbation which are poorly understood, and highlight the importance of the sex chromosomes integrity for a normal sex phenotype development.
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Perry, Tahlia, Deborah Toledo-Flores, Wan X. Kang, Arthur Ferguson, Belinda Laming, Enkhjargal Tsend-Ayush, Shu L. Lim, and Frank Grützner. "Non-invasive genetic sexing technique for analysis of short-beaked echidna (Tachyglossus aculeatus) populations." Reproduction, Fertility and Development 31, no. 7 (2019): 1289. http://dx.doi.org/10.1071/rd18142.
Повний текст джерелаАнотація:
Identifying male and female echidnas is challenging due to the lack of external genitalia or any other differing morphological features. This limits studies of wild populations and is a major problem for echidna captive management and breeding. Non-invasive genetic approaches to determine sex minimise the need for handling animals and are used extensively in other mammals. However, currently available approaches cannot be applied to monotremes because their sex chromosomes share no homology with sex chromosomes in other mammals. In this study we used recently identified X and Y chromosome-specific sequences to establish a non-invasive polymerase chain reaction-based technique to determine the sex of echidnas. Genomic DNA was extracted from echidna hair follicles followed by amplification of two Y chromosome (male-specific) genes (mediator complex subunit 26 Y-gametolog (CRSPY) and anti-Müllerian hormone Y-gametolog (AMHY)) and the X chromosome gene (anti-Müllerian hormone X-gametolog (AMHX)). Using this technique, we identified the sex of 10 juvenile echidnas born at Perth Zoo, revealing that eight of the 10 echidnas were female. Future use of the genetic sexing technique in echidnas will inform captive management, continue breeding success and can be used to investigate sex ratios and population dynamics in wild populations.
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Kremer, E., E. Baker, RJ D'Andrea, R. Slim, H. Phillips, PA Moretti, AF Lopez, C. Petit, MA Vadas, and GR Sutherland. "A cytokine receptor gene cluster in the X-Y pseudoautosomal region?" Blood 82, no. 1 (July 1, 1993): 22–28. http://dx.doi.org/10.1182/blood.v82.1.22.bloodjournal82122.
Повний текст джерелаАнотація:
The receptors for interleukin-3 (IL-3), IL-5, and granulocyte- macrophage colony-stimulating factor (GM-CSF) are heterodimers comprised of ligand specific alpha chains and a common beta chain. The genes encoding the IL-5 receptor alpha chain and the common beta chain reside on chromosome 3 and 22 respectively, while the GM-CSF receptor alpha chain gene (CSF2RA) has been mapped to the pseudoautosomal region (PAR) of the sex chromosomes, which is a 2.6-Mb stretch of homologous sequence at the tips of the short arms within which a single obligatory recombination occurs during male meiosis. We have mapped the gene encoding the IL-3 receptor alpha chain (IL3RA) to the sex chromosomes by polymerase chain reaction (PCR) analysis of human-mouse or human- chinese hamster cell hybrids, and to Yp13.3 and Xp22.3 using fluorescence in situ hybridization. To explore the possibility that IL3RA is located within the pseudoautosomal region we screened the Centre d'Etude du Polymorphisme Humain (CEPH) pedigrees for an informative-restriction fragment-length polymorphism (RFLP) that showed male meiotic recombination. Two informative CEPH pedigrees were identified that displayed this phenomenon, confirming the psuedoautosomal location of IL3RA. Using long-range restriction mapping we have found that IL3RA maps to the same 190-kb restriction fragment as CSF2RA, suggesting that a cytokine receptor gene cluster may reside in the PAR.
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Liang, Shao-jie, Ming-xia Chen, Chun-qi Gao, Hui-chao Yan, Guo-long Zhang, and Xiu-qi Wang. "Sex identification of pigeons using polymerase chain reaction analysis with simple DNA extraction." Avian Biology Research 12, no. 2 (March 4, 2019): 45–48. http://dx.doi.org/10.1177/1758155919832141.
Повний текст джерелаАнотація:
Sex identification plays an important role in avian production. Hitherto, it is difficult to distinguish the sexes of monomorphic birds based on their external features. The chromo-helicase-DNA-binding genes contain CHD-W gene and CHD-Z gene, which are located on the W chromosome and Z chromosome, respectively. Since CHD-W gene is unique to females, the polymerase chain reaction can be used for sex identification. However, extracting DNA procedures for verifying the sex is tedious and expensive. To address these disadvantages, the objective of this study was to develop a simple DNA extraction assay to efficiently process blood, liver, and feather samples. The results showed that 2% dimethylsulfoxide was suitable for processing blood, and phosphate-buffered saline was suitable for processing liver and feather samples. The specific primers were designed, and the length of the targets is 474 bp on Z chromosome and 319 bp on W chromosome. The pigeons were identified as females based on the presence of two bands on the gel, and as males based on the presence of one band. Taken together, our results suggested that feather samples were more appropriate than blood or liver for sex identification of pigeons. Compared to the traditional DNA extraction, this method shortened the assay time and reduced the cost.
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Lee, Jong Ho, Joong Hoon Park, Eun Joo Choi, Jong Taek Yoon, Chang Sik Park, Seong Ho Lee, Kyung Soon Im, and Dong Il Jin. "Frequency of sex chromosomal mosaicism in bovine embryos and its effects on sexing using a single blastomere by PCR." Zygote 11, no. 1 (February 2003): 87–93. http://dx.doi.org/10.1017/s0967199403001114.
Повний текст джерелаАнотація:
Assessment of nuclear status is important when a biopsied single blastomere is used for embryo sexing. In this study we investigated the nuclear status of blastomeres derived from 8- to 16-cell stage in vitro fertilised bovine embryos to determine the representativeness of a single blastomere for embryo sexing. In 24 embryos analysed, the agreement in sex determination between a biopsied single blastomere and a matched blastocyst by polymerase chain reaction (PCR) was 83.3%. To clarify the discrepancies, karyotypes of blastomeres in 8- to 16-cell stage bovine embryos were analysed. We applied vinblastine sulfate at various concentrations and for different exposure times for metaphase plate induction in 8- to 16-cell stage bovine embryos. The 1.0 mg/ml vinblastine sulfate treatment for 15 h was selected as the most effective condition for induction of a metaphase plate (>45%). Among 22 embryos under these conditions, only 8 of 10 that had a normal diploid chromosome complement showed a sex chromosomal composition of XX or XY (36.4%) and 2 diploid embryos showed mosaicism of the opposite sex of XX and XY in blastomeres of the embryo (9.1%). One haploid embryo contained only one X-chromosome (4.5%). Four of another 11 embryos with a mixoploid chromosomal complement contained a haploid blastomere with a wrong sex chromosome (18.2%). In conclusion, assessment of nuclear status of 8- to 16-cell stage bovine embryos revealed that morphologically normal embryos had a considerable proportion of mixoploid blastomeres and sex chromosomal mosaicism; these could be the cause of discrepancies in the sex between biopsied single blastomeres and matched blastocysts by PCR.
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Shahid, Mohammad. "Mutation Analysis of the SRY Gene in a Patient with Turner Syndrome." Biomedical and Pharmacology Journal 15, no. 2 (June 30, 2022): 605–11. http://dx.doi.org/10.13005/bpj/2399.
Повний текст джерелаАнотація:
Testis-determining factor (TDF) is an alternative term for the sex-determining region (SRY) gene found on the Y chromosome. SRY gene mutations can cause a wide range of sex development issues. The single-exon SRY gene is a short and intronless sex-determining gene with a DNA-binding high mobility group (HMG) box that is highly conserved. We performed cytogenetic analysis on one patient with Turner syndrome having a 45,X/46,XY chromosomal composition. Further, we used polymerase chain reaction, single-stranded conformational polymorphism, and automated DNA sequencing to detect a substitution of C→A (missense mutation) at codon 139, which led to an amino acid shift from Proline to Glutamine (P139Q) outside but downstream of the HMG box in the SRY gene. No further alterations in the SRY gene were discovered in the patient. The absence of one X chromosome in 88% of the patient’s cells might have resulted in a wide variety of phenotypic complications.
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Guzel, A., O. Demirhan, A. Pazarbasi, and B. Yuksel. "Parental Origin and Cell Stage Errors in X-Chromosome Polysomy 49, XXXXY." Balkan Journal of Medical Genetics 12, no. 1 (January 1, 2009): 45–50. http://dx.doi.org/10.2478/v10034-009-0003-y.
Повний текст джерелаАнотація:
Parental Origin and Cell Stage Errors in X-Chromosome Polysomy 49, XXXXYPolysomy 49, XXXXY is a rare sex chromosome aneuploidy syndrome characterized by mental retardation, severe speech impairment, craniofacial abnormalities, multiple skeletal defects and genital abnormalities. We describe a patient with 49, XXXXY syndrome who had many characteristics of Fraccaro syndrome; language impairment, mongoloid slant, epicanthal folds, cryptorchidism, umbilical hernia and dysmyelinization in his brain. A GTG-banding technique was used for karyotype analysis of peripheral blood cell cultures. The parental origin of polysomy X was identified by using quantitative fluorescent polymerase chain reaction (QF-PCR) with seven short tandem repeat (STR) markers specific for the X/Y-chromosome which revealed that all the X-chromosomes were of maternal origin. This report provides evidence for successive non disjunctions in maternal meiosis I and II.
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Sembon, Shoichiro, Shun-ichi Suzuki, Dai-ichiro Fuchimoto, Masaki Iwamoto, Tatsuo Kawarasaki, and Akira Onishi. "Sex identification of pigs using polymerase chain reaction amplification of the amelogenin gene." Zygote 16, no. 4 (November 2008): 327–32. http://dx.doi.org/10.1017/s0967199408004826.
Повний текст джерелаАнотація:
SummaryThe amelogenin (AMEL) gene exists on both sex chromosomes of various mammalian species and the length and sequence of the noncoding regions differ between the two chromosome-specific alleles. Because both forms can be amplified using a single primer set, the use of AMEL in polymerase chain reaction (PCR)-based methods has facilitated sex identification in various mammalian species, including cattle, sheep and humans. In this study, we designed PCR primers to yield different-sized products from the AMEL genes on the X (AMELX) and Y (AMELY) chromosomes of pigs. PCR amplification of genomic DNA samples collected from various breeds of pigs (European breeds: Landrace, Large White, Duroc and Berkshire; Chinese breeds: Meishan and Jinhua and their crossbreeds) yielded the expected products. For all breeds, DNA from male pigs produced two bands (520 and 350 bp; AMELX and AMELY, respectively), whereas samples from female pigs generated only the 520 bp product. We then tested the use of PCR of AMEL for sex identification of in vitro-produced (IVP) porcine embryos sampled at 2 or 5 to 6 days after fertilization; germinal vesicle (GV)-stage oocytes and electroactivated embryos were used as controls. More than 88% of the GV-stage oocytes and electroactivated embryos yielded a single 520 bp single band and about 50% of the IVP embryos tested produced both bands. Our findings show that PCR analysis of the AMEL gene is reliable for sex identification of pigs and porcine embryos.
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Raval, Nidhi P., Tejas M. Shah, Linz-Buoy George, and Chaitanya G. Joshi. "Effect of the pH in the enrichment of X or Y sex chromosome-bearing sperm in bovine." August-2019 12, no. 8 (August 2019): 1299–303. http://dx.doi.org/10.14202/vetworld.2019.1299-1303.
Повний текст джерелаАнотація:
Background and Aim: Studies have shown that the pH of the vagina during the course of fertilization may influence the migration of X- and Y-bearing spermatozoa and thus leading to skewness in the sex of the offspring. Hence, this study was carried out to check the effect of the pH in the enrichment of X or Y sex chromosome-bearing sperm in bovine (Bos indicus). Materials and Methods: To check the effect of pH in the enrichment of X or Y sex chromosome-bearing sperm in bovine, we used buffers of various pH ranging from 5.5 to 9.0 for swim-up procedure of sperm sample and collected upper and bottom fraction from the same buffer and checked the abundance of X- and Y-bearing spermatozoa by droplet digital polymerase chain reaction using X- and Y-chromosome-specific DNA probe. Results: The abundance of X- and Y-bearing spermatozoa was not differed significantly in either of the fraction collected. Conclusion: Thus, it appears to be unlikely that an immediate impact of pH on sperm can be a solitary impact on the sex of offspring in bovine. Keywords: droplet digital polymerase chain reaction, spermatozoa, swim-up.
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Purwaningrum, Medania, Herjuno Ari Nugroho, Machmud Asvan, Karyanti Karyanti, Bertha Alviyanto, Randy Kusuma, and Aris Haryanto. "Molecular techniques for sex identification of captive birds." Veterinary World 12, no. 9 (September 2019): 1506–13. http://dx.doi.org/10.14202/vetworld.2019.1506-1513.
Повний текст джерелаАнотація:
Background and Aim: Many avian species are considered sexually monomorphic. In monomorphic bird species, especially in young birds, sex is difficult to identify based on an analysis of their external morphology. Accurate sex identification is essential for avian captive breeding and evolutionary studies. Methods with varying degrees of invasiveness such as vent sexing, laparoscopic surgery, steroid sexing, and chromosome inspection (karyotyping) are used for sex identification in monomorphic birds. This study aimed to assess the utility of a non-invasive molecular marker for gender identification in a variety of captive monomorphic birds, as a strategy for conservation. Materials and Methods: DNA was isolated from feather samples from 52 individuals representing 16 species of 11 families indigenous to both Indonesia and elsewhere. We amplified the chromodomain helicase DNA-binding (CHD) gene using polymerase chain reaction with MP, NP, and PF primers to amplify introns with lengths that differ between the CHD-W and the CHD-Z genes, allowing sex discrimination because the W chromosome is exclusively present in females. Results: Molecular bird sexing confirmed 33 females and 19 males with 100% accuracy. We used sequencing followed by alignment on one protected bird species (Probosciger aterrimus). Conclusion: Sex identification may be accomplished noninvasively in birds, because males only have Z sex chromosomes, whereas females have both Z and W chromosomes. Consequently, the presence of a W-unique DNA sequence identifies an individual as female. Sexing of birds is vital for scientific research, and to increase the success rate of conservation breeding programs.
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Amstrup, S. C., G. W. Garner, M. A. Cronin, and J. C. Patton. "Sex identification of polar bears from blood and tissue samples." Canadian Journal of Zoology 71, no. 11 (November 1, 1993): 2174–77. http://dx.doi.org/10.1139/z93-305.
Повний текст джерелаАнотація:
Polar bears (Ursus maritimus) can be adversely affected by hunting and other human perturbations because of low population densities and low reproduction rates. The sustainable take of adult females may be as low as 1.5% of the population. Females and accompanying young are most vulnerable to hunting, and hunters have not consistently reported the sex composition of the harvest, therefore a method to confirm the sexes of polar bears harvested in Alaska is needed. Evidence of the sex of harvested animals is often not available, but blood or other tissue samples often are. We extracted DNA from tissue and blood samples, and amplified segments of zinc finger (ZFX and ZFY) genes from both X and Y chromosomes with the polymerase chain reaction. Digestion of amplified portions of the X chromosome with the restriction enzyme HaeIII resulted in subdivision of the original amplified segment into four smaller fragments. Digestion with HaeIII did not subdivide the original segment amplified from the Y chromosome. The differing fragment sizes produced patterns in gel electrophoresis that distinguished samples from male and female bears 100% of the time. This technique is applicable to the investigation of many wildlife management and research questions.
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Gruetzner, Frank, Terry Ashley, David M. Rowell, and Jennifer A. Marshall Graves. "How did the platypus get its sex chromosome chain? A comparison of meiotic multiples and sex chromosomes in plants and animals." Chromosoma 115, no. 2 (December 13, 2005): 75–88. http://dx.doi.org/10.1007/s00412-005-0034-4.
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Munné, Santiago, Ya Xu Tang, Heinz-Ulrich G. Weier, Jonathan Stein, Michelle Finkelstein, Jamie Grifo, and Jacques Cohen. "Sex distribution in arrested precompacted human embryos." Zygote 1, no. 2 (May 1993): 155–62. http://dx.doi.org/10.1017/s0967199400001416.
Повний текст джерелаАнотація:
Evidence of sexual dimorphism before fetal gonadal differentiation in mammals has been accumulating, suggesting that male embryos develop faster than female ones. The current investigation was performed to evaluate whether the development rate of precompacted human embryos is controlled by sex chromosomes. Sex was determined by polymerase chain reaction and fluorescence in situ hybridisation in 172 arrested embryos derived from in vitro fertilisation. The sex ratio (1.02:0.98) did not differ significantly from 1:1. Although more males appeared to have greater fragmentation, the difference between the sex ratios of highly fragmented and normal embryos (1.08:0.92) was not significant. Arrested female embryos had a tendency to exhibit more than five nuclei and less than 10% fragmentation, but the trend was not statistically significant. The current results suggest that the first developmental block in human embryos occurs prior to and shortly after genomic activation and is not determined by the presence of the Y chromosome.
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Manna, Laura, Gianluca Neglia, Marcella Marino, Bianca Gasparrini, Rossella Di Palo, and Luigi Zicarelli. "Sex determination of buffalo embryos (Bubalus bubalis) by polymerase chain reaction." Zygote 11, no. 1 (February 2003): 17–22. http://dx.doi.org/10.1017/s0967199403001035.
Повний текст джерелаАнотація:
The aim of this study was to identify a simple, rapid method for sex determination of in vitro produced buffalo embryos, amplifying Y-chromosome-specific repeat sequences by polymerase chain reaction (PCR). Buffalo oocytes collected from slaughtered animals were matured, fertilised and cultured in vitro for 7 days. On day 7 embryos were evaluated and divided in to six groups according to developmental stage (2, 4, 8, 16 cells, morulae and blastocyst). Each embryo was stored singly in phosphate-buffered saline at −20 °C until PCR. Two different methods of extraction of DNA were compared: a standard procedure (ST), using a normal extraction by phenol-chloroform, isoamyl alcohol and final precipitation in absolute ethanol and a direct procedure (DT), using a commercial kit (Qiaquik-Qiagen mini blood). A pair of bovine satellite primers and two pairs of different bovine Y-chromosome-specific primers (BRY4.a and BRY.1) were used in the PCR assay on embryos and on whole blood samples collected from male and female adult buffaloes, used as control. The trial was carried out on 359 embryos (193 for ST and 166 for DT). When DNA samples from blood were amplified, the sex determined by PCR always corresponded to the anatomical sex. Embryo sexing was not possible in two embryos in ST and one embryo in DT. Both extraction protocols recovered sufficient quantities of target DNA at all developmental stages, but the time required for the ST (24 h) limits its use in embryo sexing and supports the use of commercial extraction kits (5 h).
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Hidayat, Ratu Fresa Khoirotunnisa, Diana Savitri, Irhamna Putri, Warih Pulung Nugrahani, and Aris Haryanto. "Molecular Bird Sexing of Tanimbar Cockatoos (Cacatua goffiniana) by Using Polymerase Chain Reaction Method." Journal of Tropical Biodiversity and Biotechnology 6, no. 2 (May 20, 2021): 59997. http://dx.doi.org/10.22146/jtbb.59997.
Повний текст джерелаАнотація:
This study aimed to determine the sex of Tanimbar Cockatoo (Cacatua goffiniana) birds by amplifying Chromodomain Helicase DNA-binding-1 (CHD-1) gene on Z and W sex chromosomes as well as to compare the quality of DNA extraction and PCR amplification products from samples derived from peripheral blood and plucked feathers. This work used five C. goffiniana birds which were collected from the Wildlife Rescue Center (WRC) in Pengasih, Kulon Progo, Yogyakarta. From each C. goffiniana, feather samples were collected by plucking feathers on the ventral wing and peripheral blood samples were taken by cutting their nails and collecting the blood into microhematocrit tubes containing heparin. The next stage was DNA extraction and DNA amplification on the CHD-1 gene using the PCR method by NP, P2, and MP primer pairs. Then, products of DNA extraction and PCR amplification were electrophoresed on 1.5% agarose gel and visualized under a UV light transilluminator with a wavelength of 260 nm. The visualization showed that samples from peripheral blood generated clearer DNA fragments compared to plucked feathers. Two of the five samples were male C. goffiniana and the other three samples were females. In the male Tanimbar Cockatoo was amplified a single DNA fragment of the Z sex chromosome in size of 300 bp, whereas in the female C. goffiniana was amplified double DNA fragments of Z and W sex chromosomes in size of 300 bp and 400 bp respectively. The DNA quality showed that the DNA quality from peripheral blood samples were better in quality than the DNA collected from plucked feather samples.
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Dwarka, Arvin, Cynthia M. Ross Friedman, Mairi E. MacKay, and Don Nelson. "Polymerase chain reaction identification of a female-specific genetic marker in Arceuthobium americanum (lodgepole pine dwarf mistletoe) and its implications for Arceuthobium sex determination." Botany 89, no. 6 (June 2011): 369–77. http://dx.doi.org/10.1139/b11-025.
Повний текст джерелаАнотація:
In North America, the most widespread and speciose mistletoe is Arceuthobium M. Bieb. (dwarf mistletoes, Viscaceae), which is a dioecious parasite of conifers. Little is known about its sex determination system, and sex chromosomes have not been identified. A genetic marker for early gender discrimination in Arceuthobium would be useful in the study of sex ratios and sex determination. Here, random amplified polymorphic DNA analysis via the polymerase chain reaction (PCR) was used to investigate genetic differences between genders in Arceuthobium americanum Nutt. ex Engelm. collected near Kamloops, British Columbia and Bélair, Manitoba. A total of 196 10-mer primers were selected for analysis of DNA from isolated male and female A. americanum somatic tissue. A ∼900 bp female-specific DNA fragment was generated with primer OPB-18 (5′-CCACAGCAGT-3′). The fragment was cloned and sequenced. Using GenBank and the basic local alignment search tool alignment software, it was determined that the first ∼300 bp of this DNA sequence shared a high degree of similarity to transposable elements (76%) and a Y-chromosome (male) fragment (75%) in Silene latifolia Poir. Sequence-characterized amplified region primers were then designed. This study has generated an efficient molecular tool to differentiate male and female A. americanum while also providing evidence indicating that A. americanum may have homomorphic, possibly protoheteromorphic, sex chromosomes.
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Ratri, Inggit Nindika Dianing, Irhamna Putri Rahmawati, Warih Pulung Nugrahani, and Aris Haryanto. "Molecular Bird Sexing of Small Yellow-crested Cockatoo (<i>Cacatua sulphurea</i>, Gmelin 1788) Using Polymerase Chain Reaction Method." Journal of Tropical Biodiversity and Biotechnology 7, no. 3 (November 28, 2022): 76463. http://dx.doi.org/10.22146/jtbb.76463.
Повний текст джерелаАнотація:
The yellow-crested cockatoo (Cacatua sulphurea, Gmelin 1788) is an endemic bird in eastern part of Indonesia with monomorphic characteristics and included in the list of endangered birds. A method of sex determine in monomorphic birds is by molecular sexing which is based on the PCR amplification of the chromodomain helicase DNA-binding 1 (CHD-1) gene of the bird sex chromosome. This study was aimed to sex determine of the C. sulphurea by amplifying the CHD-1 gene on the Z and W chromosomes and comparing the PCR amplification results from peripheral blood and plucked feathers samples. The samples used were four birds of C. sulphurea from the Wildlife Rescue Centre (WRC), Yogyakarta. The feathers obtained from the ventral wings of each bird were plucked. Through the cutting of the birds' nails, the peripheral blood samples were collected into microhematocrit tubes which contained Heparin. The amplification of the CHD-1 gene used the PCR method with specific primers, such as NP, P2, and MP. Moreover, the PCR results were visualized on 1.5% agarose gel using UV-Transilluminator, at a wavelength of 280 nm. The PCR products (amplicons) were in 297 bp and 392 bp DNA bands, depending on the sex of the bird being tested. It was also observed that the male C. sulphurea produced single 392 bp DNA fragment of the Z chromosome. However, the female birds produced two DNA fragments of the Z and W chromosomes, with a length of 297 bp and 392 bp. The results showed that samples obtained from peripheral blood produced clearer DNA bands compared to plucked feather. It concludes that the extracted DNA from peripheral blood samples have a better quality compared to samples from plucked feathers. Amplification of the CHD-1 gene in male C. sulphurea generated only a single DNA fragment in size of 392 bp, so the four C. sulphurea were male birds.
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Inkster, Amy, Mary Ann Thomas, Nadine S. Gamache, Michael Chan, Pernilla Stenroos, Judy E. Chernos, and Bob Argiropoulos. "A Challenging Prenatal QF-PCR Rapid Aneuploidy Test Result Caused by a Maternally Inherited Triplication within Chromosome Xq26.2." Cytogenetic and Genome Research 156, no. 1 (2018): 5–8. http://dx.doi.org/10.1159/000492650.
Повний текст джерелаАнотація:
The aim of this study was to investigate the origin of the biallelic trisomic amplification pattern of the X chromosome microsatellite marker DXS1187 in an otherwise normal male fetus, identified on routine rapid aneuploidy detection (RAD) testing by quantitative fluorescent-polymerase chain reaction (QF-PCR). Amniocentesis was performed on a 35-year-old female at 15 weeks, 2 days gestation for a positive first trimester screen. QF-PCR, metaphase FISH, and chromosomal microarray were carried out on both maternal and fetal DNA. Fetal QF-PCR showed a biallelic trisomic pattern for the X chromosome microsatellite marker DXS1187, with an otherwise normal male amplification pattern at all other sex chromosome markers. Chromosome analysis performed on cultured amniocytes showed a normal male karyotype. Chromosome microarray analysis identified a maternally inherited 304-kb copy number triplication within chromosome Xq26.2 encompassing the DXS1187 marker. The maternally inherited X chromosome harbors an apparently tandem 304-kb triplication that overlaps the DXS1187 marker. As the triplicated region is devoid of clinically relevant genes, it was considered as likely benign in the fetus. Postnatal follow-up reported a healthy male newborn. To our knowledge, this is a unique case demonstrating a “benign” copy number imbalance involving the DXS1187 marker detected by prenatal QF-PCR RAD.
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Palsbøll, Per J., Anna Vader, Ingrid Bakke, and M. Raafat El-Gewely. "Determination of gender in cetaceans by the polymerase chain reaction." Canadian Journal of Zoology 70, no. 11 (November 1, 1992): 2166–70. http://dx.doi.org/10.1139/z92-292.
Повний текст джерелаАнотація:
We determined the gender of a variety of cetacean species, including both ondotocetes and mysticetes, using the polymerase chain reaction for amplification of the sex chromosome specific regions ZFY/ZFX and SRY. This quick and simple method requires extremely small amounts of tissue, and therefore allows gender to be determined from skin biopsies taken from free-ranging specimens. In the fin whale, Balaenoptera physalus, no gender-specific bands were observed when the ZFY/ZFX system was used, but when the SRY system was used, sex was accurately determined. Previous studies in other mammals have also shown the SRY system to be more reliable in sex determination. We therefore recommend amplification of the SRY region alone or in parallel with the ZFY/ZFX regions, as described here, as a test for gender in cetaceans and other mammals.
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Emad, Ahmed, Josée Lamoureux, Annie Ouellet, and Régen Drouin. "Rapid Aneuploidy Detection of Chromosomes 13, 18, 21, X and Y Using Quantitative Fluorescent Polymerase Chain Reaction with Few Microdissected Fetal Cells." Fetal Diagnosis and Therapy 38, no. 1 (2015): 65–76. http://dx.doi.org/10.1159/000365810.
Повний текст джерелаАнотація:
Objectives: Analysis of DNA from small numbers of cells, such as fetal cells in maternal blood, is a major limiting factor for their use in clinical applications. Traditional methods of single-cells whole genome amplification (SCs-WGA) and accurate analysis have been challenging to date. Our purpose was to assess the feasibility of using a few fetal cells to determine fetal sex and major chromosomal abnormalities by quantitative fluorescent polymerase chain reaction (QF-PCR). Methods: Cultured cells from 26 amniotic fluid samples were used for standard DNA extraction and recovery of 5 fetal cells by laser-capture microdissection. SCs-WGA was performed using the DNA from the microdissected cells. PCR amplification of short tandem repeats specific for chromosomes 13, 18, 21, X and Y was performed on extracted and amplified DNA. Allele dosage and sexing were quantitatively analyzed following separation by capillary electrophoresis. Results: Microsatellite QF-PCR analysis showed high concordance in chromosomal copy number between extracted and amplified DNA when 5 or more cells were used. Results were in concordance with that of conventional cytogenetic analysis. Conclusion: Satisfactory genomic coverage can be obtained from SCs-WGA. Clinically, SCs-WGA coupled with QF-PCR can provide a reliable, accurate, rapid and cost-effective method for detection of major fetal chromosome abnormalities.
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Zhou, Jian, Shaojing Wang, Li'ang Yu, Ning Li, Shufen Li, Yulan Zhang, Ruiyun Qin, Wujun Gao, and Chuanliang Deng. "Cloning and physical localization of male-biased repetitive DNA sequences in Spinacia oleracea (Amaranthaceae)." Comparative Cytogenetics 15, no. 2 (April 23, 2021): 101–18. http://dx.doi.org/10.3897/compcytogen.v15i2.63061.
Повний текст джерелаАнотація:
Spinach (Spinacia oleracea Linnaeus, 1753) is an ideal material for studying molecular mechanisms of early-stage sex chromosome evolution in dioecious plants. Degenerate oligonucleotide-primed polymerase chain reaction (DOP-PCR) technique facilitates the retrotransposon-relevant studies by enriching specific repetitive DNA sequences from a micro-dissected single chromosome. We conducted genomic subtractive hybridization to screen sex-biased DNA sequences by using the DOP-PCR amplification products of micro-dissected spinach Y chromosome. The screening yielded 55 male-biased DNA sequences with 30 576 bp in length, of which, 32 DNA sequences (12 049 bp) contained repeat DNA sequences, including LTR/Copia, LTR/Gypsy, simple repeats, and DNA/CMC-EnSpm. Among these repetitive DNA sequences, four DNA sequences that contained a fragment of Ty3-gypsy retrotransposons (SP73, SP75, SP76, and SP77) were selected as fluorescence probes to hybridization on male and female spinach karyotypes. Fluorescence in situ hybridization (FISH) signals of SP73 and SP75 were captured mostly on the centromeres and their surrounding area for each homolog. Hybridization signals primarily appeared near the putative centromeres for each homologous chromosome pair by using SP76 and SP77 probes for FISH, and sporadic signals existed on the long arms. Results can be served as a basis to study the function of repetitive DNA sequences in sex chromosome evolution in spinach.
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Zhou, Jian, Shaojing Wang, Li'ang Yu, Ning Li, Shufen Li, Yulan Zhang, Ruiyun Qin, Wujun Gao, and Chuanliang Deng. "Cloning and physical localization of male-biased repetitive DNA sequences in Spinacia oleracea (Amaranthaceae)." Comparative Cytogenetics 15, no. 2 (April 23, 2021): 101–18. http://dx.doi.org/10.3897/compcytogen.v15.i2.63061.
Повний текст джерелаАнотація:
Spinach (Spinacia oleracea Linnaeus, 1753) is an ideal material for studying molecular mechanisms of early-stage sex chromosome evolution in dioecious plants. Degenerate oligonucleotide-primed polymerase chain reaction (DOP-PCR) technique facilitates the retrotransposon-relevant studies by enriching specific repetitive DNA sequences from a micro-dissected single chromosome. We conducted genomic subtractive hybridization to screen sex-biased DNA sequences by using the DOP-PCR amplification products of micro-dissected spinach Y chromosome. The screening yielded 55 male-biased DNA sequences with 30 576 bp in length, of which, 32 DNA sequences (12 049 bp) contained repeat DNA sequences, including LTR/Copia, LTR/Gypsy, simple repeats, and DNA/CMC-EnSpm. Among these repetitive DNA sequences, four DNA sequences that contained a fragment of Ty3-gypsy retrotransposons (SP73, SP75, SP76, and SP77) were selected as fluorescence probes to hybridization on male and female spinach karyotypes. Fluorescence in situ hybridization (FISH) signals of SP73 and SP75 were captured mostly on the centromeres and their surrounding area for each homolog. Hybridization signals primarily appeared near the putative centromeres for each homologous chromosome pair by using SP76 and SP77 probes for FISH, and sporadic signals existed on the long arms. Results can be served as a basis to study the function of repetitive DNA sequences in sex chromosome evolution in spinach.
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Alipanah, M., A. Torkamanzehi, and H. Taghavi. "Sex determination in ostrich (Struthio camelus) using DNA markers." Canadian Journal of Animal Science 90, no. 3 (September 1, 2010): 357–60. http://dx.doi.org/10.4141/cjas09125.
Повний текст джерелаАнотація:
Production of bird species such as ostrich (Struthio camelus) has been gaining increasing importance in Iran as well as many other countries. Ostrich, similar to many other species of birds, lacks sexual dimorphism, making it difficult to differentiate between males and females, especially at an early age, which can be problematic in breeding programs. Recently developed molecular genetic methods that utilize polymerase chain reaction (PCR) based techniques can facilitate rapid identification of the bird’s sex in these species using a DNA sample, which can be easily extracted from blood or feather pulps. We successfully applied a PCR-based RFLP technique and sex chromosome primers for sex determination in a sample of 30 Ostrich chicks using DNA extracted from blood and feather pulps. Both DNA samples (blood and feather pulps) provided useful results. However, using feather pulps from 1-day-old chicks can provide an easy and inexpensive method for sex determination in ostrich. Key words: Ostrich (struthio camelus), sex determination, sexual dimorphism, polymerase chain reaction, RFLP
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Peters, Okimi, and W. Allan King. "The detection of female cell activity in male sex chromosome chimeric Rideau Arcott sheep, using the Xist gene product as a marker." SURG Journal 1, no. 2 (February 21, 2008): 20–25. http://dx.doi.org/10.21083/surg.v1i2.414.
Повний текст джерелаАнотація:
The detection of the SRY (Sex-determining region on the Y chromosome) gene is a popular method used for the identification of freemartins (XX/XY female chimeras). This method relies on the fact that the SRY gene is a Y chromosome specific gene and is thus normally only present in males therefore detecting its presence in a female indicates the presence of male cells (XY cells) within the female. This concept can be extrapolated to the male counterparts of freemartins with regards to the Xist gene. This gene is normally only widely expressed in females and can be used as a marker for identifying females. Therefore, detecting Xist gene expression in males (in tissues other than the testes, as the Xist gene is expressed exclusively in the testes of males) may indicate that these males contain transcriptionally competent female cells and thus necessarily labels them as sex-chromosome chimeras. In the present study four previously identified male sex chromosome chimeras were screened for the expression of the Xist gene using reverse transcription Polymerase Chain Reaction (PCR), and it was detected in three of the four chimeras. Xist expression was not detected in one of the chimeras because the proportion of female cells in its blood is significantly low and thus it is likely that the blood sample used in the study did not possess female cells. None-the-less it was concluded that the detection of Xist expression in male sex chromosome chimeras can be used as an indication of the presence and transcriptional competence of female cells within them.
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Zhang, Yong Sheng, Ying Chun Du, Li Rong Sun, Xu Hai Wang, Shuai Bing Liu, Ji Feng Xi, Chao Cheng Li, et al. "A genetic method for sex determination in Ovis spp. by interruption of the zinc finger protein, Y-linked (ZFY) gene on the Y chromosome." Reproduction, Fertility and Development 30, no. 9 (2018): 1161. http://dx.doi.org/10.1071/rd17339.
Повний текст джерелаАнотація:
The mammalian Y chromosome plays a critical role in spermatogenesis. However, the exact functions of each gene on the Y chromosome have not been completely elucidated, due, in part, to difficulties in gene targeting analysis of the Y chromosome. The zinc finger protein, Y-linked (ZFY) gene was first proposed to be a sex determination factor, although its function in spermatogenesis has recently been elucidated. Nevertheless, ZFY gene targeting analysis has not been performed to date. In the present study, RNA interference (RNAi) was used to generate ZFY-interrupted Hu sheep by injecting short hairpin RNA (shRNA) into round spermatids. The resulting spermatozoa exhibited abnormal sperm morphology, including spermatozoa without tails and others with head and tail abnormalities. Quantitative real-time polymerase chain reaction analysis showed that ZFY mRNA expression was decreased significantly in Hu sheep with interrupted ZFY compared with wild-type Hu sheep. The sex ratio of lambs also exhibited a bias towards females. Together, the experimental strategy and findings of the present study reveal that ZFY also functions in spermatogenesis in Hu sheep and facilitate the use of RNAi in the control of sex in Hu sheep.
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Madrid-Bury, Ninoska, Raúl Fernández, Adela Jiménez, Sonia Pérez-Garnelo, Pedro Nuno Moreira, Belén Pintado, Julio de la Fuente, and Alfonso Gutiérrez-Adán. "Effect of ejaculate, bull, and a double swim-up sperm processing method on sperm sex ratio." Zygote 11, no. 3 (August 2003): 229–35. http://dx.doi.org/10.1017/s0967199403002272.
Повний текст джерелаАнотація:
Offspring gender preselection has applications of considerable economic, health and ecological interest. In this study we analysed modifications of the percentages of spermatozoa bearing Y and X chromosomes when semen samples are submitted to a double swim-up technique as a possible method for producing embryos of known sex with in vitro fertilisation protocols. As an initial experiment to provide accurate evaluation of the method we determined the possible incidence of natural deviations in the primary sex ratio between bulls or ejaculates, analysing the percentage of Y-chromosome DNA bearing spermatozoa (%Y-CDBS) with a polymerase chain reaction (PCR) amplification of X- and Y-specific fragments. Ejaculates were tested by direct semiquantitative PCR sexing and by sexing blastocysts produced in vitro with these spermatozoa. Bulls and ejaculates did not have any effect on the %Y-CDBS or on the sex ratio of embryos produced in vitro using these ejaculates. However, our double swim-up sperm preparation method produced differences in %Y-CDBS in some of the sperm fractions, suggesting that there are intrinsic differences in capacitation of X- and Y-bearing spermatozoa that might be used to produce embryos of the desired sex with in vitro fertilisation.
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Matthaei, Klaus I., Charles M. Herr, Mark P. Bradley, and Ken C. Reed. "Analysis of the sex chromosome constitution of single bovine spermatozoa by polymerase chain reaction (PCR)." Theriogenology 33, no. 1 (January 1990): 285. http://dx.doi.org/10.1016/0093-691x(90)90709-3.
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Wedi, E., S. Müller, M. Neusser, P. H. Vogt, O. Y. Tkachenko, J. Zimmer, D. Smeets, H. W. Michelmann, and P. L. Nayudu. "Detection of cross-sex chimerism in the common marmoset monkey (Callithrix jacchus) in interphase cells using fluorescence in situ hybridisation probes specific for the marmoset X and Y chromosomes." Reproduction, Fertility and Development 29, no. 5 (2017): 913. http://dx.doi.org/10.1071/rd15321.
Повний текст джерелаАнотація:
Chimerism associated with placental sharing in marmosets has been traditionally analysed using conventional chromosome staining on metaphase spreads or polymerase chain reaction. However, the former technique requires the presence of proliferating cells, whereas the latter may be associated with possible blood cell contamination. Therefore, we aimed to develop a single-cell analysis technique for sexing marmoset cells. We applied fluorescent in situ hybridisation (FISH) to cell nuclei using differentially labelled X and Y chromosome-specific probes. Herein we present the validation of this method in metaphase cells from a marmoset lymphoblastoid cell line, as well as application of the method for evaluation of cross-sex chimerism in interphase blood lymphocytes and haematopoietic bone marrow cells from marmosets of same- and mixed-sex litters. The results show conclusively that haematopoietic cells of bone marrow and leucocytes from blood are cross-sex chimeric when the litter is mixed sex. In addition, single samples of liver and spleen cell suspensions from one individual were tested. Cross-sex chimerism was observed in the spleen but not in liver cells. We conclude that FISH is the method of choice to identify cross-sex chimerism, especially when combined with morphological identification of nuclei of different cell types, which will allow a targeted tissue-specific analysis.
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De Falco, Luigia, Teresa Suero, Giovanni Savarese, Pasquale Savarese, Raffaella Ruggiero, Antonella Di Carlo, Mariasole Bruno, et al. "Non-Invasive Prenatal Screening: The First Report ofPentasomy X Detected by Plasma Cell-Free DNA and Karyotype Analysis." Diagnostics 12, no. 7 (June 29, 2022): 1591. http://dx.doi.org/10.3390/diagnostics12071591.
Повний текст джерелаАнотація:
Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX) and is probably due to a nondisjunction during the meiosis. So far, only five cases prenatally diagnosed were described. The main features in 49,XXXXX karyotype include severe intellectual disability with delayed speech development, short stature, facial dysmorphisms, osseous and articular abnormalities, congenital heart malformations, and skeletal and limb abnormalities. Prenatal diagnosis is often difficult due to the lack of a clear echographic sign like nuchal translucency (NT), and mostly cases were postnatally described. We report the first case of a 49,XXXXX female that was detected by non-invasive prenatal screening (NIPS), quantitative fluorescence polymerase chain reaction (QF-PCR) and a fetal karyotype.
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Kalina, J., J. Mucksová, H. Yan, and P. Trefil. " Rapid sexing of selected Galliformes by polymerase chain reaction." Czech Journal of Animal Science 57, No. 4 (April 27, 2012): 187–92. http://dx.doi.org/10.17221/5894-cjas.
Повний текст джерелаАнотація:
Vent sexing of one-day-old chicks in commercial hatcheries has long been common practice and can be highly accurate. However, there are circumstances when this technique is not applicable such as smaller breeds, non-domestic birds, or where is the necessity of precise sexing. In this study we present a simple and reliable method for fast gender determination in selected Galliformes for which phenotypic determination of sex is difficult until maturity. Four species were tested: two commercial species – chicken (Gallus gallus) and turkey (Meleagris gallopavo), and two game birds – common pheasant (Phasianus colchicus) and wood grouse (Tetraro urogallus). DNA was tested with universal single-pair primers polymerase chain reaction (PCR) detecting W chromosome specific sequence yielding a single band of length specific for each species. The method was developed with regards to time consumption and cost-effectiveness giving results in less than two hours. The method may also be used for early sexing in commercial chicken and turkey flocks as well as sexing of smaller game birds flocks or for research laboratories when rapid sexing of selected Galliformes cells is required.
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Wise, Dwayne A., and Jeanne L. Taylor. "On the mechanism of homologous synapsis in lycosid spiders." Genome 38, no. 3 (June 1, 1995): 443–49. http://dx.doi.org/10.1139/g95-058.
Повний текст джерелаАнотація:
Lycosid spiders have 13 pairs of telocentric chromosomes and 2 nonhomologous sex chromosomes in males. At leptotene, the kinetochore ends are attached to the nuclear envelope via thickened attachment plaques. Homologous synapsis begins at the attachment plaques and proceeds zipper-like through the length of the synaptonemal complex. We have tested whether or not this simple form of homologous synapsis is obligatory by inducing reciprocal translocations. Since we find many irradiated cells with quadrivalents at diakinesis–prometaphase and metaphase I, clearly a backup system exists that can bring together homologous segments disparate from each other in the nucleus. This mechanism apparently does not depend on end-initiated synapsis. Furthermore, we have found in previous studies that wolf spider bivalents are always unichiasmate, with either proximally or distally placed chiasmata. Since many chain quadrivalents, but no ring quadrivalents, were seen in this study, crossing over and chiasma placement obey a different set of rules when homologous segments are switched between chromosomes.Key words: chromosome pairing, zygotene, homology search, spiders.
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Sasi, R., Y. S. Fan, and C. C. Lin. "Prenatal sexing and detection of zfy gene sequences in sex chromosome disorders by polymerase chain reaction." Journal of Clinical Laboratory Analysis 5, no. 3 (1991): 193–96. http://dx.doi.org/10.1002/jcla.1860050308.
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Barbosa, Lene Garcia, Adriana Aparecida Siviero-Miachon, Maria Anunciação Souza, and Angela Maria Spinola-Castro. "Recognition of the Y chromosome in Turner syndrome using peripheral blood or oral mucosa tissue." Annals of Pediatric Endocrinology & Metabolism 26, no. 4 (December 31, 2021): 272–77. http://dx.doi.org/10.6065/apem.2142026.013.
Повний текст джерелаАнотація:
Purpose: Turner syndrome is defined as total or partial loss of the second sex chromosome in a phenotypically female patient. Due to the possibility of hidden mosaicism of fragments of the Y chromosome and development of gonadoblastoma, we evaluated the presence of such fragments in 2 tissues with different embryonic origins, peripheral blood lymphocytes (mesoderm), and oral mucosal cells (ectoderm) using multiplex polymerase chain reaction.Methods: DNA samples were collected from 109 patients, and primers for the SRY, TSPY, and AMELX genes were used.Results: We found 14 patients (12.8%) with positive molecular markers for the Y chromosome. The study of tissues of different embryological origin showed the same degree of agreement, sensitivity, and specificity.Conclusion: Oral mucosa cells have a simpler method of collection that is less invasive and requires less time for DNA extraction at a lower cost.
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Rud, Yu, and I. Grytsyniak. "Sex Determination Systems Based on PCR for Salmonids Reared in Ukraine." Agricultural Science and Practice 1, no. 3 (December 15, 2014): 37–42. http://dx.doi.org/10.15407/agrisp1.03.037.
Повний текст джерелаАнотація:
Aims. To analyse highly conserved male-specifi c sequences in Y chromosome of salmonid species and de- velop the conventional polymerase chain reaction (PCR) for rapid identifi cation of fi sh sex. Methods. DNA sequence analysis, phylogenetic analysis, DNA extraction, primers design, PCR and sequencing were used. Results. Using the data from NCBI GenBank, all available sequences of male-specifi c Y-chromosome genes (sdY) in salmonid species were analyzed for specifi c oligonucleotide primer design. The PCR assay for rapid identifi cation of males in rainbow trout Onchorhynchus mykiss, brown trout Salmo trutta, huchen Hucho hucho and grayling Thymallus thymallus was developed. The length of PCR products was in the range of 200–800 base pairs (bp). The specifi city of the amplifi ed fragments was tested by sequencing of PCR products. All PCR products corresponded to the areas of the Y chromosome where the sdY loci are located. The comparison of the amplifi ed DNAs revealed high identity (95–99 %) between the sequences of the rainbow trout, the brown trout, the huchen, and the grayling. The highest identity rates were noted among one specifi c genus and the percent- age of homology was approximately 99 % as shown for rainbow trout O. mykiss. Conclusions. The sex of the mentioned above fi sh species can be readily determined by the PCR assay which allows performing simple identifi cation of “neomales” in the indirect feminization method via the hormonal sex reversal. The assay can be classifi ed as express diagnostics, because the data analysis and the delivery of the generated results to the fi sh-farming site can be accomplished within a day.
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Demirhan, Osman, N. Tanriverdi, M. B. Yilmaz, S. Kocaturk-Sel, N. Inandiklioglu, U. Luleyap, E. Akbal, G. Comertpay, T. Tufan, and O. Dur. "Report of a New Case With Pentasomy X and Novel Clinical Findings." Balkan Journal of Medical Genetics 18, no. 1 (June 1, 2015): 85–92. http://dx.doi.org/10.1515/bjmg-2015-0010.
Повний текст джерелаАнотація:
AbstractPentasomy X is an extremely rare sex chromosome abnormality, a condition that only affects females, in which three more X chromosomes are added to the normally present two chromosomes in females. We investigated the novel clinical findings in a 1-year-old female baby with pentasomy X, and determined the parental origins of the X chromosomes. Our case had thenar atrophy, postnatal growth deficiency, developmental delay, mongoloid slant, microcephaly, ear anomalies, micrognathia and congenital heart disease. A conventional cytogenetic technique was applied for the diagnosis of the polysomy X, and quantitative fluorescent polymerase chain reaction (QF-PCR) using 11 inherited short tandem repeat (STR) alleles specific to the chromosome X for the determination of parental origin of X chromosomes. A cytogenetic evaluation revealed that the karyotype of the infant was 49,XXXXX. Comparison of the infant’s features with previously reported cases indicated a clinically recognizable specific pattern of malformations referred to as the pentasomy X syndrome. However, to the best of our know-ledge, this is the first report of thenar atrophy in a patient with 49,XXXXX. The molecular analysis suggested that four X chromosomes of the infant originated from the mother as a result of the non disjunction events in meiosis I and meiosis II. We here state that the clinical manifestations seen in our case were consistent with those described previously in patients with pentasomy X. The degree of early hypotonia constitutes an important early prognostic feature in this syndrome. The pathogenesis of pentasomy X is not clear at present, but it is thought to be caused by successive maternal non disjunctions.
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Itoh, Yuichiro, Akira Ogawa, Koichi Murata, Takahisa Hosoda, and Shigeki Mizuno. "Identification of the sex of Oriental white stork, Ciconia boyciana, by the polymerase chain reaction based on its sex chromosome-specific DNA sequences." Genes & Genetic Systems 72, no. 1 (1997): 51–56. http://dx.doi.org/10.1266/ggs.72.51.
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Oliveira, Rose Mary Rocco de, Ieda Therezinha do Nascimento Verreschi, Monica Vannucci Nunes Lipay, Lilian Piñero Eça, Alexis Dourado Guedes, and Bianca Bianco. "Y chromosome in Turner syndrome: review of the literature." Sao Paulo Medical Journal 127, no. 6 (November 2009): 373–78. http://dx.doi.org/10.1590/s1516-31802009000600010.
Повний текст джерелаАнотація:
Turner syndrome (TS) is one of the most common types of aneuploidy among humans, and is present in 1:2000 newborns with female phenotype. Cytogenetically, the syndrome is characterized by sex chromosome monosomy (45,X), which is present in 50-60% of the cases. The other cases present mosaicism, with a 45,X cell line accompanied by one or more other cell lines with a complete or structurally abnormal X or Y chromosome. The presence of Y-chromosome material in patients with dysgenetic gonads increases the risk of gonadal tumors, especially gonadoblastoma. The greatest concern is the high risk of developing gonadoblastoma or other tumors and virilization during puberty if chromosome Y-specific sequences are present. The role of the Y chromosome in human oncogenesis is still controversial. Even though gonadoblastoma is a benign tumor, it can undergo transformation into invasive dysgerminoma in 60% of the cases, and also into other, malignant forms of germ cell tumors. Although some authors have questioned the high incidence of gonadoblastoma (around 30%), the risk of developing any kind of gonadal lesion, whether tumoral or not, justifies investigation of Y-chromosome sequences by means of the polymerase chain reaction (PCR), a highly sensitive, low-cost and easy-to-perform technique. In conclusion, mosaicism of both the X and the Y chromosome is a common finding in TS, and detection of Y-chromosome-specific sequences in patients, regardless of their karyotype, is necessary in order to prevent the development of gonadal lesions.
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Jacobsen, Ditte, Grethe Risum Krog, and Frederik Banch Clausen. "Early and Accurate Sex Determination by qPCR of Y Chromosome Repetitive Sequence (YRS) In Cell-Free Fetal DNA from Maternal Plasma." Journal of Applied Laboratory Medicine 3, no. 3 (November 1, 2018): 346–56. http://dx.doi.org/10.1373/jalm.2018.026799.
Повний текст джерелаАнотація:
Abstract Background Circulating cell-free fetal DNA (cffDNA) provides the opportunity for noninvasive prenatal diagnosis. Early knowledge of the fetal sex is essential in cases with a risk of a sex-linked genetic disease. A reliable and highly sensitive sex determination test is required for first trimester testing because of the low amounts of cffDNA. Methods First trimester blood samples from 326 pregnant women were analyzed by real-time quantitative polymerase chain reaction (qPCR) for the presence of Y chromosome repetitive sequence (YRS). Blood samples were collected from gestational weeks 4–12. Fetal sex was predicted on the basis of results from the YRS assay of cffDNA extracted from maternal plasma. The predicted sex was compared with the phenotypic sex of the newborn baby (n = 294). Results There was high concordance between the test results from the YRS assay and the actual sex at birth. There were no false-positive results, indicating agreement between male YRS results and male sex at birth. Two results were false negative (from gestational weeks 4 and 6) predicting female fetuses, when the actual sex at birth was male. Overall, the sensitivity of the YRS assay was 98.6% (95% CI, 95.1%–99.8%), specificity was 100% (95% CI, 97.5%–100%), and accuracy was 99.3% (95% CI, 97.5%–99.9%). From 7 weeks of gestation, sensitivity, specificity, and accuracy were 100%. Conclusions This study shows that qPCR can be used to detect and quantify repetitive DNA sequences from 0.3 genome equivalents per milliliter of plasma. Prenatal sex determination by qPCR of YRS in cffDNA from maternal plasma was reliable and robust with cffDNA extracted from 1 mL of nonhemolyzed plasma, with a plasma equivalent per PCR of 167 μL. The YRS assay can be used for early noninvasive prenatal sex determination from a gestational age of 7 weeks.
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Sinclair, P. B., E. P. Nacheva, M. Leversha, N. Telford, J. Chang, A. Reid, A. Bench, K. Champion, B. Huntly, and A. R. Green. "Large deletions at the t(9;22) breakpoint are common and may identify a poor-prognosis subgroup of patients with chronic myeloid leukemia." Blood 95, no. 3 (February 1, 2000): 738–43. http://dx.doi.org/10.1182/blood.v95.3.738.003k21_738_743.
Повний текст джерелаАнотація:
The hallmark of chronic myeloid leukemia (CML) is theBCR-ABL fusion gene, which is usually formed as a result of the t(9;22) translocation. Patients with CML show considerable heterogeneity both in their presenting clinical features and in the time taken for evolution to blast crisis. In this study, metaphase fluorescence in situ hybridization showed that a substantial minority of patients with CML had large deletions adjacent to the translocation breakpoint on the derivative 9 chromosome, on the additional partner chromosome in variant translocations, or on both. The deletions spanned up to several megabases, had variable breakpoints, and could be detected by microsatellite polymerase chain reaction in unfractionated bone marrow and purified peripheral blood granulocytes. The deletions were likely to occur early and possibly at the time of the Philadelphia (Ph) chromosome translocation: deletions were detected at diagnosis in 11 patients, were found in all Ph-positive metaphases, and were more prevalent in patients with variant Ph chromosomes. Kaplan-Meier analysis showed a median survival time of 36 months in patients with a deletion; patients without a detectable deletion survived > 90 months. The survival-time difference was significant on log-rank analysis (P = .006). Multivariate analysis demonstrated that the prognostic importance of deletion status was independent of age, sex, percentage of peripheral blood blasts, and platelet count. Our data therefore suggest that an apparently simple, balanced translocation may result not only in the generation of a dominantly acting fusion oncogene but also in the loss of one or more genes that influence disease progression.
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Richter, Annekatrin, Johannes Krug, and Christoph Englert. "Molecular Sexing ofNothobranchius furzeriEmbryos and Larvae." Cold Spring Harbor Protocols 2022, no. 12 (September 27, 2022): pdb.prot107782. http://dx.doi.org/10.1101/pdb.prot107782.
Повний текст джерелаАнотація:
Differences between the sexes are of increasing interest in basic and applied research with regard to development, behavior, aging, and diseases. Although the African turquoise killifishNothobranchius furzeri, a model for aging research well known for its remarkably short life span, develops strong sexual dimorphism in adulthood, there is no visible indicator of its sex in embryonic and juvenile stages. To address this issue, we developed a molecular sexing assay exploiting two large sequence polymorphisms in the minimal sex-determining region (SDR) ofN. furzeri. These polymorphisms are sequence deletions on the Y chromosome that involve the lack or truncation of one or multiple microsatellites. The simple polymerase chain reaction (PCR) readout of the assays described here allows the sexing ofN. furzeriembryos and larvae in a medium- to high-throughput and cost-efficient manner.