Relevant bibliographies by topics / Dosage-sensitive genes

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Academic literature on the topic 'Dosage-sensitive genes'

Author: Grafiati
Published: 14 December 2024

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Journal articles on the topic "Dosage-sensitive genes"

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Reiter, Lawrence T., Tatsufumi Murakami, Laura E. Warner, and James R. Lupski. "DNA rearrangements affecting dosage sensitive genes." Mental Retardation and Developmental Disabilities Research Reviews 2, no. 3 (1996): 139–46. http://dx.doi.org/10.1002/(sici)1098-2779(1996)2:3<139::aid-mrdd4>3.0.co;2-n.

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Sapienza, Carmen. "Sex-linked dosage-sensitive modifiers as imprinting genes." Development 108, Supplement (April 1, 1990): 107–13. http://dx.doi.org/10.1242/dev.108.supplement.107.

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It is proposed that differential genome imprinting is the result of dosage-sensitive modifier genes located on the sex chromosomes. Parallels between variegating position-effects in Drosophila, the phenotype elicited by transgenes in the mouse and data from several pediatric tumors indicate that the net result of the activity of such modifier genes is often cellular mosaicism in the expression of affected alleles. The mechanism by which inactivation of affected alleles is achieved is proposed to be through the formation of heterochromatic domains. Because the relevant sex-linked modifying loci are dosage sensitive in their activity, differential imprinting will occur even within homogeneous genetic backgrounds. The presence of allelic variants at these loci in non-inbred populations will give rise to variation in the observed expressivity and mode of inheritance of affected traits.
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Zimmer, Fabian, Peter W. Harrison, Christophe Dessimoz, and Judith E. Mank. "Compensation of Dosage-Sensitive Genes on the Chicken Z Chromosome." Genome Biology and Evolution 8, no. 4 (April 2016): 1233–42. http://dx.doi.org/10.1093/gbe/evw075.

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Chang, Andrew Ying-Fei, and Ben-Yang Liao. "Reduced Translational Efficiency of Eukaryotic Genes after Duplication Events." Molecular Biology and Evolution 37, no. 5 (January 6, 2020): 1452–61. http://dx.doi.org/10.1093/molbev/msz309.

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Abstract Control of gene expression has been found to be predominantly determined at the level of protein translation. However, to date, reduced expression from duplicated genes in eukaryotes for dosage maintenance has only been linked to transcriptional control involving epigenetic mechanisms. Here, we hypothesize that dosage maintenance following gene duplication also involves regulation at the protein level. To test this hypothesis, we compared transcriptome and proteome data of yeast models, Saccharomyces cerevisiae and Schizosaccharomyces pombe, and worm models, Caenorhabditis elegans and Caenorhabditis briggsae, to investigate lineage-specifically duplicated genes. Duplicated genes in both eukaryotic models exhibited a reduced protein-to-mRNA abundance ratio. Moreover, dosage sensitive genes, represented by genes encoding protein complex subunits, reduced their protein-to-mRNA abundance ratios more significantly than the other genes after duplication events. An analysis of ribosome profiling (Ribo-Seq) data further showed that reduced translational efficiency was more prominent for dosage sensitive genes than for the other genes. Meanwhile, no difference in protein degradation rate was associated with duplication events. Translationally repressed duplicated genes were also more likely to be inhibited at the level of transcription. Taken together, these results suggest that translation-mediated dosage control is partially contributed by natural selection and it enhances transcriptional control in maintaining gene dosage after gene duplication events during eukaryotic genome evolution.
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Plenefisch, J. D., L. DeLong, and B. J. Meyer. "Genes that implement the hermaphrodite mode of dosage compensation in Caenorhabditis elegans." Genetics 121, no. 1 (January 1, 1989): 57–76. http://dx.doi.org/10.1093/genetics/121.1.57.

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Abstract We report a genetic characterization of several essential components of the dosage compensation process in Caenorhabditis elegans. Mutations in the genes dpy-26, dpy-27, dpy-28, and the newly identified gene dpy-29 disrupt dosage compensation, resulting in elevated X-linked gene expression in XX animals and an incompletely penetrant maternal-effect XX-specific lethality. These dpy mutations appear to cause XX animals to express each set of X-linked genes at a level appropriate for XO animals. XO dpy animals are essentially wild type. Both the viability and the level of X-linked gene expression in XX animals carrying mutations in two or more dpy genes are the same as in animals carrying only a single mutation, consistent with the view that these genes act together in a single process (dosage compensation). To define a potential time of action for the gene dpd-28 we performed reciprocal temperature-shift experiments with a heat sensitive allele. The temperature-sensitive period for lethality begins 5 hr after fertilization at the 300-cell stage and extends to about 9 hr, a point well beyond the end of cell proliferation. This temperature-sensitive period suggests that dosage compensation is functioning in XX animals by mid-embryogenesis, when many zygotically transcribed genes are active. While mutations in the dpy genes have no effect on the sexual phenotype of otherwise wild-type XX or XO animals, they do have a slight feminizing effect on animals whose sex-determination process is already genetically perturbed. The opposite directions of the feminizing effects on sex determination and the masculinizing effects on dosage compensation caused by the dpy mutations are inconsistent with the wild-type dpy genes acting to coordinately control both processes. Instead, the feminizing effects are most likely an indirect consequence of disruptions in dosage compensation caused by the dpy mutations. Based on the cumulative evidence, the likely mechanism of dosage compensation in C. elegans involves reducing X-linked gene expression in XX animals to equal that in XO animals via the action of the dpy genes.
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Thompson, Ammon, Harold H. Zakon, and Mark Kirkpatrick. "Compensatory Drift and the Evolutionary Dynamics of Dosage-Sensitive Duplicate Genes." Genetics 202, no. 2 (December 12, 2015): 765–74. http://dx.doi.org/10.1534/genetics.115.178137.

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Javed, Sehrish, Tharushan Selliah, Yu-Ju Lee, and Wei-Hsiang Huang. "Dosage-sensitive genes in autism spectrum disorders: From neurobiology to therapy." Neuroscience & Biobehavioral Reviews 118 (November 2020): 538–67. http://dx.doi.org/10.1016/j.neubiorev.2020.08.009.

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Raznahan, Armin, Neelroop N. Parikshak, Vijay Chandran, Jonathan D. Blumenthal, Liv S. Clasen, Aaron F. Alexander-Bloch, Andrew R. Zinn, et al. "Sex-chromosome dosage effects on gene expression in humans." Proceedings of the National Academy of Sciences 115, no. 28 (June 26, 2018): 7398–403. http://dx.doi.org/10.1073/pnas.1802889115.

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A fundamental question in the biology of sex differences has eluded direct study in humans: How does sex-chromosome dosage (SCD) shape genome function? To address this, we developed a systematic map of SCD effects on gene function by analyzing genome-wide expression data in humans with diverse sex-chromosome aneuploidies (XO, XXX, XXY, XYY, and XXYY). For sex chromosomes, we demonstrate a pattern of obligate dosage sensitivity among evolutionarily preserved X-Y homologs and update prevailing theoretical models for SCD compensation by detecting X-linked genes that increase expression with decreasing X- and/or Y-chromosome dosage. We further show that SCD-sensitive sex-chromosome genes regulate specific coexpression networks of SCD-sensitive autosomal genes with critical cellular functions and a demonstrable potential to mediate previously documented SCD effects on disease. These gene coexpression results converge with analysis of transcription factor binding site enrichment and measures of gene expression in murine knockout models to spotlight the dosage-sensitive X-linked transcription factor ZFX as a key mediator of SCD effects on wider genome expression. Our findings characterize the effects of SCD broadly across the genome, with potential implications for human phenotypic variation.
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Smulders-Srinivasan, Tora K., and Haifan Lin. "Screens for piwi Suppressors in Drosophila Identify Dosage-Dependent Regulators of Germline Stem Cell Division." Genetics 165, no. 4 (December 1, 2003): 1971–91. http://dx.doi.org/10.1093/genetics/165.4.1971.

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Abstract The Drosophila piwi gene is the founding member of the only known family of genes whose function in stem cell maintenance is highly conserved in both animal and plant kingdoms. piwi mutants fail to maintain germline stem cells in both male and female gonads. The identification of piwi-interacting genes is essential for understanding how stem cell divisions are regulated by piwi-mediated mechanisms. To search for such genes, we screened the Drosophila third chromosome (∼36% of the euchromatic genome) for suppressor mutations of piwi2 and identified six strong and three weak piwi suppressor genes/sequences. These genes/sequences interact negatively with piwi in a dosage-sensitive manner. Two of the strong suppressors represent known genes—serendipity-δ and similar, both encoding transcription factors. These findings reveal that the genetic regulation of germline stem cell division involves dosage-sensitive mechanisms and that such mechanisms exist at the transcriptional level. In addition, we identified three other types of piwi interactors. The first type consists of deficiencies that dominantly interact with piwi2 to cause male sterility, implying that dosage-sensitive regulation also exists in the male germline. The other two types are deficiencies that cause lethality and female-specific lethality in a piwi2 mutant background, revealing the zygotic function of piwi in somatic development.
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Duffy, Joseph B., James Wells, and J. Peter Gergen. "Dosage-Sensitive Maternal Modifiers of the Drosophila Segmentation Gene runt." Genetics 142, no. 3 (March 1, 1996): 839–52. http://dx.doi.org/10.1093/genetics/142.3.839.

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Abstract The protein encoded by the pair-rule gene runt functions as a transcriptional regulator during anterior-posterior patterning of the Drosophila embryo. Results of over-expression experiments as well as parallels drawn from the recent characterization of vertebrate homologues indicate that interactions with other proteins are likely to be central to the function of the Runt protein. To identify factors important for runt activity, we took advantage of an adult visible phenotype observed in animals heterozygous for runt mutations. Using a set of 126 different deficiency chromosomes we screened ~65% of the genome for genes that act as dose-sensitive maternal modifiers of runt. Eighteen deficiencies representing 12 putative loci were identified as maternally acting enhancers of runt haplo-insufficiency. Further characterization of two of these regions led to the identification of the interacting loci. Both of these loci affect the spatial regulation of runt transcription and appear genetically complex. Furthermore, the effects of one of these loci, M(1)1B, is indirect and mediated through effects on the transcriptional regulation of posterior gap genes.
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Dissertations / Theses on the topic "Dosage-sensitive genes"

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Bonney, Megan Ellis. "The role of dosage sensitive genes in aneuploid phenotypes." Thesis, Massachusetts Institute of Technology, 2016. http://hdl.handle.net/1721.1/103226.

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Thesis: Ph. D., Massachusetts Institute of Technology, Department of Biology, 2016.
Cataloged from PDF version of thesis.
Includes bibliographical references.
Aneuploidy-the gain or loss of one or more whole chromosomes-typically has an adverse impact on organismal fitness, manifest in conditions such as Down syndrome. A central question is whether aneuploid phenotypes are the consequence of copy number changes of a few especially harmful genes that may be present on the extra chromosome, or are caused by copy number alterations of many genes that confer no observable phenotype when varied individually. We used the proliferation defect exhibited by budding yeast strains carrying single additional chromosomes (disomes) to distinguish between the "few critical genes hypothesis" and the "mass action of genes hypothesis". Our results indicate that subtle changes in gene dosage across a chromosome can have significant phenotypic consequences. We conclude that phenotypic thresholds can be crossed by mass action of copy number changes that on their own are benign.
by Megan Ellis Bonney.
Ph. D.
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Champion, Mia Daniele. "Identification of genes that are dosage-sensitive modifiers of nod phenotype and act to properly segregate achiasmate chromosomes /." Connect to Digital dissertations. Restricted to UC campuses. Access is free to UC campus dissertations, 2002. http://uclibs.org/PID/11984.

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Ahumada, Saavedra José Tomás. "Craniofacial analysis of Down syndrome rodent models." Electronic Thesis or Diss., Strasbourg, 2024. http://www.theses.fr/2024STRAJ041.

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Les altérations les plus fréquentes et les plus caractéristiques du syndrome de Down (SD) sont les troubles de l'apprentissage et la dysmorphie crâniofaciale (CF). Le phénotype CF comprend des dimensions réduites de la tête, une brachycéphalie, une région orbitale médio-latérale réduite, une largeur bizygomatique réduite, un petit maxillaire, une petite mandibule et une variabilité individuelle accrue. Jusqu'à présent, les mécanismes cellulaires et moléculaires qui sous-tendent ce phénotype CF restent inconnus. Cette thèse, utilisant un nouveau panel de modèles de rats et de souris, a proposé de nouveaux gènes candidats pour le phénotype SD-CF. Nous avons confirmé le rôle de Dyrk1a dans la brachycéphalie du neurocrâne et identifié le surdosage du facteur de transcription Ripply3 pour le raccourcissement de la face médiane par la sous-régulation de Tbx1, un autre facteur de transcription impliqué dans des phénotypes similaires trouvés dans le syndrome de DiGeorge. Nous avons défini de nouveaux gènes sensibles au dosage responsables des malformations du SD-CF, et de nouveaux modèles ont été proposés pour sauver le phénotype SD-CF. Ces nouvelles connaissances pourraient également permettre de mieux comprendre les phénotypes cérébraux et cardiovasculaires spécifiques observés chez les mutants Tbx1 et les modèles de DS
The most frequent and distinctive alterations found in Down syndrome (DS) are learning disability and craniofacial (CF) dysmorphism. The CF phenotype includes reduced head dimensions, brachycephaly, reduced mediolateral orbital region, reduced bizygomatic breadth, small maxilla, small mandible, and increased individual variability. Until now, the cellular and molecular mechanisms underlying this CF phenotype remain unknown. This thesis, using a new panel of rats and mice models proposed new candidate genes for the DS-CF phenotype. We confirmed the role of Dyrk1a in neurocranium brachycephaly and identified the overdosage of the transcription factor Ripply3 for midface shortening through the downregulation of Tbx1, another transcription factor involved in similar phenotypes was found in Di George Syndrome. We defined new dosage-sensitive genes responsible for DS-CF malformations, and new models were proposed to rescue the DS-CF phenotype. This new knowledge may also lead to insights for specific brain and cardiovascular phenotypes observed in Tbx1 mutants and DS models
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Book chapters on the topic "Dosage-sensitive genes"

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Stankiewicz, Paweł, and James R. Lupski. "The genomic basis of medicine." In Oxford Textbook of Medicine, edited by John D. Firth, Christopher P. Conlon, and Timothy M. Cox, 218–35. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780198746690.003.0030.

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The first phase of the studies on genetic variation in humans has been focused on single nucleotide polymorphisms and common variation. The large number of single nucleotide polymorphisms identified has enabled successful genome-wide association studies for disease susceptibility risk of complex traits (e.g. diabetes and cancer), but for the most part has had limited practical applications in clinical medicine. This chapter examines the recent technological developments which have enabled a higher-resolution analysis of the human genome and its extensive submicroscopic structural variation, including copy-number variants. Copy-number variants involving dosage-sensitive genes result in several diseases and contribute to human diversity and evolution. An emerging group of genetic diseases have been described that result from DNA rearrangements (e.g. copy-number variants and other structural variations including copy-number neutral inversions and translocations), rather than from single nucleotide changes.
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Tekin, Şaban, and Birsen Cevher Keskin. "Moleküler Genetik Tanı Yöntemleri." In Moleküler Biyoloji ve Genetik, 135–60. Türkiye Bilimler Akademisi, 2023. http://dx.doi.org/10.53478/tuba.978-625-8352-48-1.ch05.

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Molecular genetic diagnosis methods include tests and analyses performed at the level of DNA, gene, protein, cell, and tissue, especially to determine the underlying origins of diseases. Molecular diagnosis appears because of the efficient interaction between laboratory medicine, genomic information, and technology in the field of molecular genetics. All these factors contribute to the identification and full characterization of the genetic basis of hereditary diseases, which is vital for the correct diagnosis. Current methods, such as next-generation sequencing or genome-level association studies, provide crucial insights into disease mechanisms, and genomic biomarkers provide an opportunity for physicians not only to assess disease susceptibility, but also to design and implement accurate diagnostic methods and personalize drug treatment modalities. The identification of the genes involved in human diseases has led to a significant increase in scientific data on genetic disorders. Therefore, it has allowed the emergence of new views on the pathogenesis and treatment of diseases. In general, the first clinical application of knowledge of the molecular genetic basis of a disease is in diagnosis. In many cases, molecular techniques are sensitive methods that allow precise genetic identification of individuals carrying mutations by performing DNA analysis on target tissue. DNA analysis is now routinely used in the diagnosis of individuals showing symptoms of different diseases due to mutations in single genes. In molecular diagnostic methods, DNA analyses are used for presymptomatic tests, carrier tests, and prenatal diagnosis, which can identify variants in genes involved in drug metabolism and allow personalizing of drug dosage. As new genes that contribute to the occurrence and pathogenicity of common diseases begin to be recognized, it is expected that new genetic analysis will be used to predict whether an individual is at risk for the disease and to identify subtypes that may best respond to specific treatments. Advances in molecular genetic techniques, Next-generation sequencing (NGS) technologies, and bioinformatics tools will provide the opportunity to conduct more comprehensive molecular genetic studies and access very valuable data in scientific research. In this chapter, after discussing the techniques used in direct mutation analysis and detection of unknown mutations, microarray technology and various platforms of NGS technology and their usage areas in different research studies are discussed.
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Vilain, Eric, and Edward R. B. Mccabe. "NR0B1 (DAX1) and X-linked Adrenal Hypoplasia Congenita and XY Sex Reversal." In Inborn Errors Of Development, 1513–23. Oxford University PressNew York, NY, 2008. http://dx.doi.org/10.1093/oso/9780195306910.003.0177.

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Abstract DAX1 (dosage-sensitive sex reversal, adrenal hypoplasia congenita critical region on the X chromosome, gene 1) is the nuclear receptor protein encoded by the gene NR0B1, which maps to Xp21 (McCabe, 2001a; Phelan and McCabe, 2001). It is an unusual member of the nuclear receptor superfamily. DAX1 is similar in sequence in its C-terminal portion to that of the typical ligand-binding domain (LBD) of other members of the superfamily (Zanaria et al., 1994; Guo et al., 1995b; Burris et al., 1996). The N-terminal portion of DAX1 is composed of 3.5 amino acid repeats and is similar to only one other superfamily member, short heterodimer partner (SHP), encoded by NR0B2, which contains only one of these repeats (Seol et al., 1996; Nuclear Receptor Nomenclature Committee, 1999;
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Conference papers on the topic "Dosage-sensitive genes"

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Menelaos, Pipis, Won Seongsik, Poh Roy, Polke James, Skorupinska Mariola, Blake Julian, Rossor Alexander, Laura Matilde, Svaren John, and Reilly Mary. "Post-transcriptional microRNA repression of the dosage-sensitive PMP22 gene in severe demyelinating Charcot-Marie-Tooth disease." In Association of British Neurologists: Annual Meeting Abstracts 2023. BMJ Publishing Group Ltd, 2023. http://dx.doi.org/10.1136/jnnp-2023-abn.246.

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