X-inactivation
The Trithorax group protein Ash2l and Saf A are recruited to the inactive X chromosome at the onset of stable X inactivation
... Xist expression causes the recruitment of Polycomb group (PcG) proteins (de Napoles et al., 2004; Plath et al., 2004; Silva et al., 2003). Polycomb repressive complex 2 (PRC2) contains the PcG proteins Eed and Suz12, and ...
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Age- and tissue-specific variation of X-inactivation ratios in X-linked Alport syndrome females
... is, X inactivation was stationary because aging had little effect on it, whereas the clinical findings on proteinuria and renal insufficiency in XLAS females were dynamic, given that X activation did ...
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Incomplete X inactivation initiated by a hypomorphic Xist allele in the mouse
... stricter X- inactivation than the extra-embryonic lineages, and there are also some differences in tolerance among tissues even within the extra-embryonic ...of X- inactivation induced by Xist ...
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Mechanics and dynamics of X chromosome pairing at X inactivation
... of X-chromosome inactivation, the vital process whereby female mammalian cells equalize X products with respect to males, the X chromosomes are colocalized along their Xic ...
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X-inactivation in the clinical phenotype of fragile X premutation carrier sisters
... of X-inactivation in mediating the phenotypic outcome of premu- tation carrier ...women. X chromosome inacti- vation is the transcriptional silencing of 1 X chromosome in the somatic cells of ...
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Skewed X-inactivation in a Female Carrier with X-linked Chronic Granulomatous Disease
... The study received approval from the Ethical Review Committee of the National Institute of Pediatrics. Written informed consent was obtained from patient. Here, we report on a 38-year-old Mexican female with ...
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Fifty years of X inactivation research
... two X chromosomes are selected against ...random inactivation can be due to mutations or polymorphisms affecting the initiation step, such as in the Xist gene or the Xce locus (Rastan, 1982; Marahrens et ...
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The Evolution of Genomic Imprinting and X Chromosome Inactivation in Mammals
... the X and the ...for X inactivation in placental ...imprinted X-inactivation and plat- ypus sex chromosome dosage compensation occur via a mechanism that is independent of the ...
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Low RNA Binding Strength of Human X Chromosome May Explain X Chromosome Inactivation
... the X chromosome in eutherians and the copy number of L1 in X chromosome was higher than that in the autosomes ...one X chromosome, approximately 30% of genes located on the short arm of the X ...
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Nonrandom X Chromosome Inactivation Is Influenced by Multiple Regions on the Murine X Chromosome
... background differences and tissues chosen for the analysis did not affect the outcome. However, there was a greater variance in gene expression measurements when tail RNA was used for the analysis instead of toe and ear ...
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Distal Xq duplication and functional Xq disomy
... the X chromosome ...unbalanced X/Y or X/ autosome translocation. In XY males, structural X disomy always results in functional ...of X chromosome dosage compensation could result from a ...
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GENETIC AND CLINICAL CONSIDERATIONS OF LONG-ARM DELETION OF THE X CHROMOSOME
... in females may require the presence of the short arm of both X chromosomes prior to X inactivation.. remains likely.[r] ...
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The role of X chromosome inactivation in female predisposition to autoimmunity
... in X inactivation patterns between buccal mucosa (an ectodermally derived tissue) and peripheral blood (mesoderm) in the same indi- vidual (unpublished ...certain X-linked alleles during embryonic ...
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Kemkemer, Claus Stefan Oliver (2011): Functional analysis of X-chromosomal gene expression in Drosophila melanogaster. Dissertation, LMU München: Fakultät für Biologie
... the X chromosome hemizygous in ...the X chromosome to evolve differently than the ...the X chromosome to the ...the X chromosome. A possible explanation for these observations is the ...
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Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy
... maternal X chromo- somes in the proband indicated that this maternal X tetra- somy originated by two consecutive non disjunctions during oogenesis, in agreement with previous findings on the maternal origin ...
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The X chromosome and sex-specific effects in infectious disease susceptibility
... BCG: Bacillus Calmette – Guérin; CI: Confidence interval; CYBB: Cytochrome b- 245 beta polypeptide; ER: Estrogen receptors; GABRA3: Gamma-aminobutyric acid A receptor subunit alpha 3; GWAS: Genome-wide association ...
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Carrier detection in X linked severe combined immunodeficiency based on patterns of X chromosome inactivation
... whose X chromosome bearing the XSCID mutation was inactivated early in ...inactive X chromosomes and restriction fragment length polymorphisms to distinguish them, we have determined the lymphocyte X ...
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Severe alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele
... of X inactivation was demonstrated in DNA isolated from the patient's kidney and white blood cells: > 90% of the X chromosomes with the normal COL4A5 allele was ...skewed inactivation ...
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Familial chromosomal translocation X; 22 associated with infertility and recurrent X mosaicism
... the X-chromosome inactivation assay for both mother and sister revealed a nonrandom X inactivation, they showed different ...translocated X-chromosome, the sister presented ...the ...
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Skewed X-chromosome inactivation in scleroderma.
... inactive X chromosome in those patients with extremely skewed ...skewed X-inactivation and both maternal and fetal microchimerism was examined in a well-characterized cohort of scleroderma ...
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