Journal ArticleDOI
Differences in methylation on the active and inactive human X chromosomes
Susan Lindsay,M. Monk,Robin Holliday,L. I. Huschtscha,Kay E. Davies,Arthur D. Riggs,Richard A. Flavell +6 more
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TLDR
Differential methylation at the sites detected appears to have no functional role in the maintenance of the inactive X chromosome since both active and inactive X chromosomes were found to be undermethylated in DNA from human lymphoblastoid cells.Abstract:
Summary
Methylation of CCGG sites was examined in four regions of the X chromosome with four X-chromosome clones, three obtained by cloning random segments and one encoding a structural gene. In DNA from human peripheral blood cells unmethylated sites correlating with the inactive X chromosome were detected in the vicinity of two of the random clones and also in the vicinity of a cloned sequence of the X-linked phosphoglycerate kinase gene (PGK). The third random clone covered a region whose methylation pattern was unchanged between the active and inactive X chromosomes. Differential methylation at the sites detected appears to have no functional role in the maintenance of the inactive X chromosome since both active and inactive X chromosomes were found to be undermethylated in DNA from human lymphoblastoid cells.read more
Citations
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Journal ArticleDOI
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.
Mimi Wan,Stephen Sung Jae Lee,Xianyu Zhang,Isa Houwink-Manville,Hae Ri Song,Ruthie E. Amir,Sarojini S. Budden,Sakku Bai Naidu,Jose Luiz Pinto Pereira,Ivan F M Lo,Huda Y. Zoghbi,N. Carolyn Schanen,Uta Francke +12 more
TL;DR: Some males with RTT-causing MECP2 mutations may survive to birth, and female heterozygotes with favorably skewed X-inactivation patterns may have little or no involvement.
Journal Article
Clonal Analysis Using Recombinant DNA Probes from the X-Chromosome
Bert Vogelstein,Eric R. Fearon,Stanley R. Hamilton,Ann C. Preisinger,Huntington F. Willard,Alan M. Michelson,Arthur D. Riggs,Stuart H. Orkin +7 more
TL;DR: Several X-chromosome probes derived from the hypoxanthine phosphoribosyltransferase gene and the phosphoglycerate kinase gene could be used for clonal analysis in over 50% of American females and were found to accurately reflect clonality in more than 95% of 92 tumors tested.
Journal ArticleDOI
Cloning and expression of the mouse pgk-1 gene and the nucleotide sequence of its promoter.
TL;DR: A number of conserved motifs in the promoter may indicate a significant role for these sequences in expression of the pgk-1 gene, which is contained within a 16-kb region of the X chromosome.
Journal ArticleDOI
G6PD: Population genetics and clinical manifestations
TL;DR: Genetic variability of G6PD has played an important role in the understanding of a variety of developmental processes and has been characterized at the deoxyribonucleic acid (DNA) level.
Journal ArticleDOI
Mechanisms of X-Chromosome Regulation
TL;DR: Article de synthese sur les mecanismes de l'inactivation des chromosomes X chez les mammiferes, stabilite de l'sinactivation dans les lignees somatiques and phenomenes de reactivation.
References
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Robin Holliday,J. E. Pugh +1 more
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Journal ArticleDOI
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TL;DR: Correlation with phenotype and other known Y chromosome markers establish that the Y-chromosome-specific reiterated DNA discussed here has no evident role in male determination.