Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 20 of 23 for “"X chromosome inactivation"”.
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Histone modification and the epigenetics of X chromosome inactivation
… majority of the genes on one of the two female X chromosomes. The inactive X chromosome (Xi) differs from its active homologue in a number of ways, including the hypoacetylation of core histones, a common property of genetically inactive chromatin. This study has used Xi to explore the functional …
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Autosomal random asynchronous replication is analogous to X-chromosome inactivation
… random class include X-linked genes subject to X inactivation, as well as a number of autosomal genes, including odorant receptors, immunoglobulins, T-cell receptors, interleukins, natural killer-cell receptors, and pheromone receptors. Random asynchronous replication of DNA in S-phase represents …
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The role of Xist RNA in the maintenance of X chromosome inactivation
… hypoacetylated on histone H4, confirming that X-inactivation can be maintained in the absence of Xist RNA. However, the Xist mutant inactive X was no longer enriched in histone macroH2A 1. Furthermore, the reactivation rate of GFP and Hprt increased, indicating Xist RNA does contribute to gene …
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Studies on X chromosome inactivation and the X-linked disease Rett syndrome
(cont.) the RTT phenotype.
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Physical and genetical investigation of the Xp11.3 region on the short arm of the human X-chromosome
The pattern of inactivation in the DXS8237E-UBE1-PCTK1 region is of particular interest, since the mechanisms of X chromosome inactivation and the escape from inactivation are, as yet, not fully understood. The inactivation status of the DXS8237E and PCTKl gene differ: the first undergoes normal …
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The Role of the X-chromosomal Porcupine Homolog Gene in Mouse Development
… of Porcn using Cre recombinase-mediated and X chromosome inactivation-based ablation of Porcn function in vivo. I have found that the earliest requirement for Porcn in mouse development is the induction of gastrulation. In contrast to findings from in vitro studies, I have provided evidence …
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States of Allelic Imbalance on the X Chromosomes in Human Females
… of imprinted genes, spanning ~1-2 Mb, or by X chromosome inactivation, involving much of an entire chromosome. Recent studies have shown that genes on the two female X chromosomes exhibit a breadth of expression patterns ranging from complete silencing of one allele to fully balanced biallelic …
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Analisi molecolare in pazienti italiani con sindrome di Lowe
… we also report a family with extremely skewed X inactivation that produced the full phenotype of Lowe syndrome in a female. The X chromosome inactivation studies detected an extremely skewed inactivation pattern with a ratio of 100:0 in the propositus as well as in five out of seven unaffected …
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Monoallelic Gene Expression In Human Neural Stem Cells
… It has long been recognised in the form of X-chromosome inactivation, genomic imprinting and random monoallelic expression (RME) of a small number of gene families. More recently, studies have reported evidence of widespread autosomal RME in human lymphoblastoid cells (Gimelbrant et al. 2007) …
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Understanding the epigenome using system genetics
… a comprehensive view of CTCF binding on the X chromosome, and its implications for X-chromosome inactivation. A novel X chromosome-wide CTCF effect is observed. Using the gender of each of the cell lines, observations are made about which CTCF sites are dosage-compensated, active on both …
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The Regulation of Dna Methylation In Mammalian Development and Cancer
… imprinting, retrotransposon silencing, and X-chromosome inactivation. Dysregulation of DNA methylation is associated with various human diseases. For example, cancer cells usually show global hypomethylation and regional hypermenthylation, which have been implicated in genomic instability and …
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Role of small RNAs and chromatin in transposable element silencing during global demethylation
… many biological processes such as imprinting, X-chromosome inactivation, cell differentiation as well as silencing of transposable elements (TEs). DNA methylation is dynamic during early mammalian development, despite being a more static mark in somatic cells. Global hypomethylation is a hallmark …
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Genomic characterization and comparative analysis of the Xce candidate region
<p>Mechanisms of sex chromosome dosage compensation vary widely between different vertebrate species. All eutherians, including humans, other primates, and rodents, undergo random X chromosome inactivation in early female embryos, a process by which the majority of the genes on one X chromosome in …
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Esx1 Dosage Impacts Reproductive Fitness: Effects On Viability and Fertility
… in placenta or testis localize to the X-chromosome. Both tissues undergo specialized X-chromosome inactivation (imprinted paternal inactivation in placenta and MSCI in testicular germ cells). When the X-chromosome is duplicated or improperly inactivated, defects in placentation, growth …
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Single molecule techniques to probe decision-making processes in developmental biology
… stem cells (mESCs) during the process of X inactivation, to demonstrate our ability to perform single-cell, single-molecule assays that reveal both highly quantitative and spatial information. Accordingly, we adapted a high resolution, single-molecule RNA fluorescent in situ hybridization …
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Genetica molecolare dell'autismo: studi di associazione ed analisi di geni candidati
… to identify susceptibility genes in autism on chromosomes 2, 7 and X: 1)High-density SNP association and CNV analysis of two Autism Susceptibility Loci. The International Molecular Genetic Study of Autism Consortium (IMGSAC) previously identified linkage loci on chromosomes 7 and 2, termed …
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Effects Of Dna Methylation Pattern On The Chromatin Structure
… such as stem cell differentiation, imprinting, X-chromosome inactivation, etc. Increased DNA methylation levels have been associated with chromatin compaction leading to gene silencing. For example, abnormal DNA methylation is associated with silencing of tumor suppressor genes and is observed in …
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The Regulation and Evolution of long, noncoding RNA Transcription
… For instance Xist is a lncRNA necessary for X-chromosome inactivation in higher eukaryotes. In budding yeast, lncRNAs produced at the GAL10 and PHO84 locus are needed for attenuating transcription of the overlapping mRNA. Though these examples illustrate that we understand the functions of some …
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Tet1: A Unique Dna Demethylase For Maintenance of Dna Methylation Pattern
… embryonic development, transcription, X chromosome inactivation, genomic imprinting and chromatin structure. Like histone modifications, DNA methylation is also dynamic and reversible. However, in contrast to well defined DNA methyltransferases, the enzymes responsible for erasing DNA …
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A functional analysis of the epigenetic regulator CTCF
… functions, including insulation, imprinting, X chromosome inactivation, and both transcriptional activation and repression. Recent data has also suggested a prominent role for CTCF in mediating interactions between chromosomes and in the global organization of the nucleus. In this work, we …
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