Relevant bibliographies by topics / Genetic Dosage Compensation

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  1. Journal articles
  2. Dissertations / Theses
  3. Book chapters

Academic literature on the topic 'Genetic Dosage Compensation'

Author: Grafiati
Published: 4 June 2021
Last updated: 1 February 2022

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Journal articles on the topic "Genetic Dosage Compensation"

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Veitia, Reiner A., Samuel Bottani, and James A. Birchler. "Gene dosage effects: nonlinearities, genetic interactions, and dosage compensation." Trends in Genetics 29, no. 7 (July 2013): 385–93. http://dx.doi.org/10.1016/j.tig.2013.04.004.

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Cowley, David E., William R. Atchley, and J. J. Rutledge. "QUANTITATIVE GENETICS OF DROSOPHILA MELANOGASTER. I. SEXUAL DIMORPHISM IN GENETIC PARAMETERS FOR WING TRAITS." Genetics 114, no. 2 (October 1, 1986): 549–66. http://dx.doi.org/10.1093/genetics/114.2.549.

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ABSTRACT Sexual dimorphism in genetic parameters is examined for wing dimensions of Drosophila melanogaster. Data are fit to a quantitative genetic model where phenotypic variance is a linear function of additive genetic autosomal variance (common to both sexes), additive genetic X-linked variances distinct for each sex, variance due to common rearing environment of families, residual environmental variance, random error variance due to replication, and variance due to measurement error and developmental asymmetry (left vs. right sides). Polygenic dosage compensation and its effect on genetic variances and covariances between sexes is discussed. Variance estimates for wing length and other wing dimensions highly correlated with length support the hypothesis that the Drosophila system of dosage compensation will cause male X-linked genetic variance to be substantially larger than female X-linked variance. Results for various wing dimensions differ, suggesting that the level of dosage compensation may differ for different traits. Genetic correlations between sexes for the same trait are presented. Total additive genetic correlations are near unity for most wing traits; this indicates that selection in the same direction in both sexes would have a minor effect on changing the magnitude of difference between sexes. Additive X-linked correlations suggest some genotype × sex interactions for X-linked effects.
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Meneely, Philip M., and William B. Wood. "Genetic Analysis of X-Chromosome Dosage Compensation in Caenorhabditis elegans." Genetics 117, no. 1 (September 1, 1987): 25–41. http://dx.doi.org/10.1093/genetics/117.1.25.

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ABSTRACT We have shown that the phenotypes resulting from hypomorphic mutations (causing reduction but not complete loss of function) in two X-linked genes can be used as a genetic assay for X-chromosome dosage compensation in Caenorhabditis elegans between males (XO) and hermaphrodites (XX). In addition we show that recessive mutations in two autosomal genes, dpy-21 V and dpy-26 IV, suppress the phenotypes resulting from the X-linked hypomorphic mutations, but not the phenotypes resulting from comparable autosomal hypomorphic mutations. This result strongly suggests that the dpy-21 and dpy-26 mutations cause increased X expression, implying that the normal function of these genes may be to lower the expression of X-linked genes. Recessive mutations in two other dpy genes, dpy-22 X and dpy-23 X, increase the severity of phenotypes resulting from some X-linked hypomorphic mutations, although dpy-23 may affect the phenotypes resulting from the autosomal hypomorphs as well. The mutations in all four of the dpy genes show their effects in both XO and XX animals, although to different degrees. Mutations in 18 other dpy genes do not show these effects.
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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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Hsu, D. R., and B. J. Meyer. "The dpy-30 gene encodes an essential component of the Caenorhabditis elegans dosage compensation machinery." Genetics 137, no. 4 (August 1, 1994): 999–1018. http://dx.doi.org/10.1093/genetics/137.4.999.

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Abstract The need to regulate X chromosome expression in Caenorhabditis elegans arises as a consequence of the primary sex-determining signal, the X/A ratio (the ratio of X chromosomes to sets of autosomes), which directs 1X@A animals to develop as males and 2X/2A animals to develop as hermaphrodites. C. elegans possesses a dosage compensation mechanism that equalizes X chromosome expression between the two sexes despite their disparity in X chromosome dosage. Previous genetic analysis led to the identification of four autosomal genes, dpy-21, dpy-26, dpy-27 and dpy-28, whose products are essential in XX animals for proper dosage compensation, but not for sex determination. We report the identification and characterization of dpy-30, an essential component of the dosage compensation machinery. Putative null mutations in dpy-30 disrupt dosage compensation and cause a severe maternal-effect, XX-specific lethality. Rare survivors of the dpy-30 lethality are dumpy and express their X-linked genes at higher than wild-type levels. These dpy-30 mutant phenotypes superficially resemble those caused by mutations in dpy-26, dpy-27 and dpy-28; however, detailed phenotypic analysis reveals important differences that distinguish dpy-30 from these genes. In contrast to the XX-specific lethality caused by mutations in the other dpy genes, the XX-specific lethality caused by dpy-30 mutations is completely penetrant and temperature sensitive. In addition, unlike the other genes, dpy-30 is required for the normal development of XO animals. Although dpy-30 mutations do not significantly affect the viability of XO animals, they do cause them to be developmentally delayed and to possess numerous morphological and behavioral abnormalities. Finally, dpy-30 mutations can dramatically influence the choice of sexual fate in animals with an ambiguous sexual identity, despite having no apparent effect on the sexual phenotype of otherwise wild-type animals. Paradoxically, depending on the genetic background, dpy-30 mutations cause either masculinization or feminization, thus revealing the complex regulatory relationship between the sex determination and dosage compensation processes. The novel phenotypes caused by dpy-30 mutations suggest that in addition to acting in the dosage compensation process, dpy-30 may play a more general role in the development of both XX and XO animals.
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Cooper, M. K., M. J. Hamblen-Coyle, X. Liu, J. E. Rutila, and J. C. Hall. "Dosage compensation of the period gene in Drosophila melanogaster." Genetics 138, no. 3 (November 1, 1994): 721–32. http://dx.doi.org/10.1093/genetics/138.3.721.

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Abstract The period (per) gene is located on the X chromosome of Drosophila melanogaster. Its expression influences biological clocks in this fruit fly, including the one that subserves circadian rhythms of locomotor activity. Like most X-linked genes in Drosophila, per is under the regulatory control of gene dosage compensation. In this study, we assessed the activity of altered or augmented per+ DNA fragments in transformants. Relative expression levels in male and female adults were inferred from periodicities associated with locomotor behavioral rhythms, and by histochemically assessing beta-galactosidase levels in transgenics carrying different kinds of per-lacZ fusion genes. The results suggest that per contains multipartite regulatory information for dosage compensation within the large first intron and also within the 3' half of this genetic locus.
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Juchniewicz, Patrycja, Ewa Piotrowska, Anna Kloska, Magdalena Podlacha, Jagoda Mantej, Grzegorz Węgrzyn, Stefan Tukaj, and Joanna Jakóbkiewicz-Banecka. "Dosage Compensation in Females with X-Linked Metabolic Disorders." International Journal of Molecular Sciences 22, no. 9 (April 26, 2021): 4514. http://dx.doi.org/10.3390/ijms22094514.

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Through the use of new genomic and metabolomic technologies, our comprehension of the molecular and biochemical etiologies of genetic disorders is rapidly expanding, and so are insights into their varying phenotypes. Dosage compensation (lyonization) is an epigenetic mechanism that balances the expression of genes on heteromorphic sex chromosomes. Many studies in the literature have suggested a profound influence of this phenomenon on the manifestation of X-linked disorders in females. In this review, we summarize the clinical and genetic findings in female heterozygotic carriers of a pathogenic variant in one of ten selected X-linked genes whose defects result in metabolic disorders.
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Papadopulos, Alexander S. T., Michael Chester, Kate Ridout, and Dmitry A. Filatov. "Rapid Y degeneration and dosage compensation in plant sex chromosomes." Proceedings of the National Academy of Sciences 112, no. 42 (October 5, 2015): 13021–26. http://dx.doi.org/10.1073/pnas.1508454112.

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The nonrecombining regions of animal Y chromosomes are known to undergo genetic degeneration, but previous work has failed to reveal large-scale gene degeneration on plant Y chromosomes. Here, we uncover rapid and extensive degeneration of Y-linked genes in a plant species, Silene latifolia, that evolved sex chromosomes de novo in the last 10 million years. Previous transcriptome-based studies of this species missed unexpressed, degenerate Y-linked genes. To identify sex-linked genes, regardless of their expression, we sequenced male and female genomes of S. latifolia and integrated the genomic contigs with a high-density genetic map. This revealed that 45% of Y-linked genes are not expressed, and 23% are interrupted by premature stop codons. This contrasts with X-linked genes, in which only 1.3% of genes contained stop codons and 4.3% of genes were not expressed in males. Loss of functional Y-linked genes is partly compensated for by gene-specific up-regulation of X-linked genes. Our results demonstrate that the rate of genetic degeneration of Y-linked genes in S. latifolia is as fast as in animals, and that the evolutionary trajectories of sex chromosomes are similar in the two kingdoms.
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Hirt, N., K. Eggermann, S. Hyrenbach, J. Lambeck, A. Busche, J. Fischer, S. Rudnik-Schoneborn, and H. Gaspar. "Genetic dosage compensation via co-occurrence of PMP22 duplication and PMP22 deletion." Neurology 84, no. 15 (March 20, 2015): 1605–6. http://dx.doi.org/10.1212/wnl.0000000000001470.

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Ishikawa, Koji, Koji Makanae, Shintaro Iwasaki, Nicholas T. Ingolia, and Hisao Moriya. "Post-Translational Dosage Compensation Buffers Genetic Perturbations to Stoichiometry of Protein Complexes." PLOS Genetics 13, no. 1 (January 25, 2017): e1006554. http://dx.doi.org/10.1371/journal.pgen.1006554.

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Dissertations / Theses on the topic "Genetic Dosage Compensation"

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Nguyen, Di Kim. "X chromosome upregulation and its biological significance in mammals /." Thesis, Connect to this title online; UW restricted, 2006. http://hdl.handle.net/1773/6326.

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Adler, David A. "A tale of two x-linked genes : gene expression, localization and the Ohno hypothesis /." Thesis, Connect to this title online; UW restricted, 1996. http://hdl.handle.net/1773/6344.

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Clemson, Christine Moulton. "Structural Association of XIST RNA with Inactive Chromosomes in Somatic Cells : a Key Step in the Process that Establishes and Faithfully Maintains X-inactivation." eScholarship@UMMS, 1998. https://escholarship.umassmed.edu/gsbs_diss/8.

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The XIST gene is implicated in X-chromosome inactivation, yet the RNA contains no apparent open reading frame. An accumulation of XIST RNA is observed near its site of transcription, the inactive X chromosome (Xi). A series of molecular cytogenetic studies comparing properties of XIST RNA to other protein coding RNAs, support a critical distinction for XIST RNA; XIST RNA does not concentrate at Xi simply because it is transcribed and processed there. Most notably, morphometric and 3-D analysis reveals that XIST RNA and Xi are coincident in 2-D and 3-D space; hence the XIST RNA essentially paints Xi. Several results indicate that the XIST RNA accumulation has two components, a minor one associated with transcription and processing, and a spliced major component, which stably associates with Xi. Upon transcriptional inhibition the major spliced component remains in the nucleus and often encircles the extra-prominent heterochromatic Barr body. The continually transcribed XIST gene and its poly-adenylated RNA consistently localize to a nuclear region devoid of splicing factor/poly A RNA rich domains. XIST RNA remains with the nuclear matrix fraction after removal of chromosomal DNA. XIST RNA is released from its association with Xi during mitosis, but shows a unique highly particulate distribution. Collective results indicate that XIST RNA may be an architectural element of the interphase chromosome territory, possibly a component of non-chromatin nuclear structure that specifically associates with Xi. XIST RNA is a novel nuclear RNA which potentially provides a specific precedent for RNA involvement in nuclear structure and cis-limited gene regulation via higher-order chromatin packaging.
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Scholz, Birger. "Genomic and Peptidomic Characterization of the Developing Avian Brain." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis, 2008. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-8507.

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Chao, Lucy F. "A Novel SMC-Like Protein Modulates C. Elegans Condensin Functions: A Dissertation." eScholarship@UMMS, 2003. http://escholarship.umassmed.edu/gsbs_diss/820.

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Chromatin is organized dynamically to accommodate different biological processes. One of the factors required for proper chromatin organization is a group of complexes called condensins. Most eukaryotes have two conserved condensins (I and II) required for chromosome segregation. C. elegans has a third condensin (IDC) that specializes in dosage compensation, a process that down-regulates X gene dosage in XX hermaphrodites to match the dosage in XO males. How the three condensins are regulated is not well understood. Here, I present the discovery and characterization of a novel condensin regulator, SMCL-1. We identified SMCL-1 through purification of a MAP-tagged condensin subunit. Condensins are comprised of SMC ATPases and regulatory CAP proteins; SMCL-1 interacts most abundantly with condensin SMC subunits and resembles the ATPase domain of SMC proteins. Interestingly, the SMCL-1 protein has residues that differ from SMC consensus and potentially render SMCL-1 incapable of hydrolyzing ATP. Worms harboring smcl-1 deletion are viable and show no detectable phenotype. However, deleting smcl-1 in a condensin hypomorph mildly suppresses condensin I and IDC mutant phenotypes, suggesting that SMCL-1 functions as a negative regulator of condensin I and IDC. Consistent with this, overexpression of SMCL-1 leads to condensin loss-of-function phenotypes such as lethality, segregation defects and disruption of IDC localization on the X chromosomes. Homology searches based on the unique ATPase domain of SMCL-1 reveal that SMCL-1-like proteins are present only in organisms also predicted to have condensin IDC. Taken together, we conclude that SMCL-1 is a negative modulator of condensin functions and we propose a role for SMCL-1 in helping organisms adapt to having a third condensin by maintaining the balance among three condensin complexes.
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Chao, Lucy F. "A Novel SMC-Like Protein Modulates C. Elegans Condensin Functions: A Dissertation." eScholarship@UMMS, 2016. https://escholarship.umassmed.edu/gsbs_diss/820.

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Chromatin is organized dynamically to accommodate different biological processes. One of the factors required for proper chromatin organization is a group of complexes called condensins. Most eukaryotes have two conserved condensins (I and II) required for chromosome segregation. C. elegans has a third condensin (IDC) that specializes in dosage compensation, a process that down-regulates X gene dosage in XX hermaphrodites to match the dosage in XO males. How the three condensins are regulated is not well understood. Here, I present the discovery and characterization of a novel condensin regulator, SMCL-1. We identified SMCL-1 through purification of a MAP-tagged condensin subunit. Condensins are comprised of SMC ATPases and regulatory CAP proteins; SMCL-1 interacts most abundantly with condensin SMC subunits and resembles the ATPase domain of SMC proteins. Interestingly, the SMCL-1 protein has residues that differ from SMC consensus and potentially render SMCL-1 incapable of hydrolyzing ATP. Worms harboring smcl-1 deletion are viable and show no detectable phenotype. However, deleting smcl-1 in a condensin hypomorph mildly suppresses condensin I and IDC mutant phenotypes, suggesting that SMCL-1 functions as a negative regulator of condensin I and IDC. Consistent with this, overexpression of SMCL-1 leads to condensin loss-of-function phenotypes such as lethality, segregation defects and disruption of IDC localization on the X chromosomes. Homology searches based on the unique ATPase domain of SMCL-1 reveal that SMCL-1-like proteins are present only in organisms also predicted to have condensin IDC. Taken together, we conclude that SMCL-1 is a negative modulator of condensin functions and we propose a role for SMCL-1 in helping organisms adapt to having a third condensin by maintaining the balance among three condensin complexes.
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Lajoie, Bryan R. "Computational Approaches for the Analysis of Chromosome Conformation Capture Data and Their Application to Study Long-Range Gene Regulation: A Dissertation." eScholarship@UMMS, 2016. http://escholarship.umassmed.edu/gsbs_diss/833.

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Over the last decade, development and application of a set of molecular genomic approaches based on the chromosome conformation capture method (3C), combined with increasingly powerful imaging approaches have enabled high resolution and genome-wide analysis of the spatial organization of chromosomes. The aim of this thesis is two-fold; 1), to provide guidelines for analyzing and interpreting data obtained from genome-wide 3C methods such as Hi-C and 3C-seq and 2), to leverage the 3C technology to solve genome function, structure, assembly, development and dosage problems across a broad range of organisms and disease models. First, through the introduction of cWorld, a toolkit for manipulating genome structure data, I accelerate the pace at which *C experiments can be performed, analyzed and biological insights inferred. Next I discuss a set of practical guidelines one should consider while planning an experiment to study the structure of the genome, a simple workflow for data processing unique to *C data and a set of considerations one should be aware of while attempting to gain insights from the data. Next, I apply these guidelines and leverage the cWorld toolkit in the context of two dosage compensation systems. The first is a worm condensin mutant which shows a reduction in dosage compensation in the hermaphrodite X chromosomes. The second is an allele-specific study consisting of genome wide Hi-C, RNA-Seq and ATAC-Seq which can measure the state of the active (Xa) and inactive (Xi) X chromosome. Finally I turn to studying specific gene – enhancer looping interactions across a panel of ENCODE cell-lines. These studies, when taken together, further our understanding of how genome structure relates to genome function.
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Czerminski, Jan T. "Modeling Down Syndrome Neurodevelopment with Dosage Compensation." eScholarship@UMMS, 2019. https://escholarship.umassmed.edu/gsbs_diss/1037.

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Due to their underlying genetic complexity, chromosomal disorders such as Down syndrome (DS), which is caused by trisomy 21, have long been understudied and continue to lack effective treatments. With over 200 genes on the extra chromosome, even the specific cell pathologies and pathways impacted in DS are not known, and it has not been considered a viable target for the burgeoning field of gene therapy. Recently, our lab demonstrated that the natural mechanism of dosage compensation can be harnessed to silence the trisomic chromosome in pluripotent cells. Using an inducible XIST transgene allows us to study the effects of trisomy in a tightly controlled system by comparing the same cells with either two or three active copies of chromosome 21. In addition, it raises the prospect that insertion of a single gene into a trisomic chromosome could potentially be developed in the future for “chromosome therapy”. This thesis aims to utilize this inducible system for dosage compensation to study the neurodevelopmental effects of trisomy 21 in vitro, and to answer basic epigenetic questions critical to the viability of chromosome silencing as a therapeutic approach. Foremost, for XIST to have any prospect as a therapeutic, and to strengthen its experimental utility, it must be able to initiate chromosome silencing beyond its natural context of pluripotency. Here I demonstrate that, contrary to the current literature, XIST is capable of initiating chromosome silencing in differentiated cells and producing fully dosage compensated DS neurons. Additionally, I show that silencing of the trisomic chromosome in neural stem cells enhances their terminal differentiation to neurons, and transcriptome analysis provides evidence of a specific pathway involved. Separate experiments utilize novel three-dimensional organoid technology and transcriptome analysis to model DS neurodevelopment in relation to isogenic euploid cells. Overall, this work demonstrates that dosage compensation provides a powerful experimental tool to examine early DS neurodevelopment, and establishes that XIST function does not require pluripotency, thereby overcoming a perceived obstacle to the potential of XIST as a therapeutic strategy for trisomy.
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Wang, Charlotte I.-Wen. "A ChIP-Mass Spectrometry Approach to Analysis of Dosage Compensation in Drosophila." Thesis, Harvard University, 2012. http://dissertations.umi.com/gsas.harvard:10519.

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Dosage compensation is a process that many multicellular organisms employ to equalize the expression of X-linked genes between males and females. In Drosophila melanogaster, it is achieved by a two-fold transcriptional activation of the single X chromosome in males. This is mediated by the male-specific lethal (MSL) complex, which is composed of at least five proteins (MSL-1, MSL-2, MSL-3, MOF, MLE) and two non-coding roXRNAs (RNA on X). In a two-step model, MSL complex targets the male X first by binding to chromatin entry sites in a sequence-dependent manner, and then spreads to bind all active genes in a sequence-independent mechanism. In order to biochemically characterize the MSL complex, we applied an approach that combines chromatin immunoprecipitation with mass spectrometry to preserve and analyze protein-protein interactions on the chromatin template. This approach enabled us to capture interacting proteins identified through genetics, but previously not detected in mass spectrometry of soluble complexes. We also identified enriched combinations of associated histone tail modifications by mass spectrometry rather than relying on antibody-based recognition. In addition to this proof-of-principle for the ChIP-MS approach, we identified novel candidates for MSL interaction, including CG4747, a putative H3K36me3 binding protein associated with transcribed bodies of active genes. We observed that CG4747 colocalizes with H3K36me3 and when the SET2 H3K36me3 methyl-transferase is disrupted, this colocalization is lost. CG4747 acts synergistically with SET2 for robust MSL-targeting on the male X chromosome at chromatin entry sites and active genes. Taken together, we successfully adapted ChIP-MS for the study of Drosophila chromatin proteins, and characterized CG4747 as a protein that interacts with the MSL dosage compensation complex. We propose that ChIP-MS is a powerful general method that may prove particularly useful for comprehensive analyses of chromatin-bound regulatory complexes.
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Chiang, Jen-Chieh. "Dosage Compensation of Trisomy 21 and Its Implications for Hematopoietic Pathogenesis in Down Syndrome." eScholarship@UMMS, 2011. http://escholarship.umassmed.edu/gsbs_diss/931.

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Down Syndrome (DS), the most common aneuploidy seen in live-borns, is caused by trisomy for chromosome 21. DS imposes high risks for multiple health issues involving various systems of the body. The genetic complexity of trisomy 21 and natural variation between all individuals has impeded understanding of the specific cell pathologies and pathways involved. In addition, chromosomal disorders have been considered outside the hopeful progress in gene therapies for single-gene disorders. Here we test the feasibility of correcting imbalanced expression of genes across an extra chromosome by expression of a single gene, XIST, the key player in X chromosome inactivation. We targeted a large XIST transgene into one chromosome 21 in DS iPS cells, and demonstrated XIST RNA spreads and induces heterochromatin and gene silencing across that autosome in cis. By making XIST inducible, this allows direct comparison of effects of trisomy 21 expression on cell function and phenotypes. Importantly, XIST-induction during in vitro hematopoiesis normalized excess production of differentiated blood cell types (megakaryocytes and erythrocytes), known to confer high risk for myeloproliferative disorder and leukemia. In contrast, trisomy silencing enhances production of iPS and neural stem cells, consistent with DS clinical features. Further analysis revealed that trisomy 21 initially impacts the endothelial hematopoietic transition (EHT) to generate excess CD43+ progenitors, and also increases their colony forming potential. Furthermore, results provide evidence for a key role for enhanced IGF signaling, involving over-expression of non-chromosome 21 genes controlled by trisomy 21. Finally, experiments to examine trisomy effects on angiogenesis showed no effect on production of endothelial cells, but it remains unclear whether trisomic cells may differ in ability to form vessels. Collectively, this thesis demonstrates proof-of-principle for XIST-mediated “trisomy silencing”. Phenotypic improvement of hematopoietic and neural stem cells demonstrates the value for research into DS pathogenesis, but also provides a foundation of potential for future development of “chromosome therapy” for DS patients.
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Book chapters on the topic "Genetic Dosage Compensation"

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Paro, Renato, Ueli Grossniklaus, Raffaella Santoro, and Anton Wutz. "RNA-Based Mechanisms of Gene Silencing." In Introduction to Epigenetics, 117–33. Cham: Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-68670-3_6.

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AbstractAlthough epigenetic states are typically associated with DNA-methylation and posttranslational histone modifications, RNAs often play an important role in their regulation. Specific examples have already been discussed in the context of dosage compensation (see book ► Chap. 10.1007/978-3-030-68670-3_4 of Wutz) and genomic imprinting (see book ► Chap. 10.1007/978-3-030-68670-3_5 of Grossniklaus). In this Chapter, we will take a closer look at a particular class of RNAs implicated in gene silencing. Although the focus will lie on RNA-based silencing mechanisms in plants, many of its components, such as RNase III-related DICERLIKE endonucleases or small RNA-binding ARGONAUTE proteins, are conserved in animals, plants, and fungi. On the one hand, small RNAs are involved in post-transcriptional silencing by targeting mRNAs for degradation or inhibiting their translation, a feature that has been exploited for large-scale genetic screens. On the other hand, they also play a central role in transcriptional gene silencing, for instance in the repression of transposable elements across a wide variety of organisms. In plants, this involves a complex system whereby small RNAs derived from transposons and repeats direct DNA-methylation and repressive histone modifications in a sequence-specific manner. Recent results link this so-called RNA-dependent DNA-methylation to paramutation, a classical epigenetic phenomenon where one allele directs a heritable epigenetic change in another.
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Villeneuve, Anne M., and Barbara J. Meyer. "The Regulatory Hierarchy Controlling Sex Determination And Dosage Compensation IN." In Genetic Regulatory Hierarchies in Development, 117–88. Elsevier, 1990. http://dx.doi.org/10.1016/s0065-2660(08)60025-5.

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Lyon, M. F. "Dosage Compensation." In Encyclopedia of Genetics, 579. Elsevier, 2001. http://dx.doi.org/10.1006/rwgn.2001.0377.

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Lyon, M. F. "Dosage Compensation." In Brenner's Encyclopedia of Genetics, 407–8. Elsevier, 2013. http://dx.doi.org/10.1016/b978-0-12-374984-0.00443-5.

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"Dosage Compensation." In Encyclopedia of Genetics, Genomics, Proteomics and Informatics, 551–52. Dordrecht: Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_4802.

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"Sex Determination and Dosage Compensation." In Fundamental Genetics, 236–46. Cambridge University Press, 2004. http://dx.doi.org/10.1017/cbo9780511807022.026.

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Lucchesi, John C., and Jerry E. Manning. "Gene Dosage Compensation in Drosophila Melanogaster." In Molecular Genetics of Development, 371–429. Elsevier, 1987. http://dx.doi.org/10.1016/s0065-2660(08)60013-9.

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