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http://purl.uniprot.org/citations/17503331http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/17503331http://www.w3.org/2000/01/rdf-schema#comment"Extreme skewing of X-chromosome inactivation (XCI) is rare in the normal female population but is observed frequently in carriers of some X-linked mutations. Recently, it has been shown that various forms of X-linked mental retardation (XLMR) have a strong association with skewed XCI in female carriers, but the mechanisms underlying this skewing are unknown. ATR-X syndrome, caused by mutations in a ubiquitously expressed, chromatin-associated protein, provides a clear example of XLMR in which phenotypically normal female carriers virtually all have highly skewed XCI biased against the X chromosome that harbors the mutant allele. Here, we have used a mouse model to understand the processes causing skewed XCI. In female mice heterozygous for a null Atrx allele, we found that XCI is balanced early in embryogenesis but becomes skewed over the course of development, because of selection favoring cells expressing the wild-type Atrx allele. Unexpectedly, selection does not appear to be the result of general cellular-viability defects in Atrx-deficient cells, since it is restricted to specific stages of development and is not ongoing throughout the life of the animal. Instead, there is evidence that selection results from independent tissue-specific effects. This illustrates an important mechanism by which skewed XCI may occur in carriers of XLMR and provides insight into the normal role of ATRX in regulating cell fate."xsd:string
http://purl.uniprot.org/citations/17503331http://purl.org/dc/terms/identifier"doi:10.1086/518369"xsd:string
http://purl.uniprot.org/citations/17503331http://purl.uniprot.org/core/author"Higgs D.R."xsd:string
http://purl.uniprot.org/citations/17503331http://purl.uniprot.org/core/author"Sharpe J.A."xsd:string
http://purl.uniprot.org/citations/17503331http://purl.uniprot.org/core/author"Garrick D."xsd:string
http://purl.uniprot.org/citations/17503331http://purl.uniprot.org/core/author"Gibbons R.J."xsd:string
http://purl.uniprot.org/citations/17503331http://purl.uniprot.org/core/author"Wood W.G."xsd:string
http://purl.uniprot.org/citations/17503331http://purl.uniprot.org/core/author"Sloane-Stanley J."xsd:string
http://purl.uniprot.org/citations/17503331http://purl.uniprot.org/core/author"Nolan P.M."xsd:string
http://purl.uniprot.org/citations/17503331http://purl.uniprot.org/core/author"Hacker T."xsd:string
http://purl.uniprot.org/citations/17503331http://purl.uniprot.org/core/author"Muers M.R."xsd:string
http://purl.uniprot.org/citations/17503331http://purl.uniprot.org/core/date"2007"xsd:gYear
http://purl.uniprot.org/citations/17503331http://purl.uniprot.org/core/name"Am J Hum Genet"xsd:string
http://purl.uniprot.org/citations/17503331http://purl.uniprot.org/core/pages"1138-1149"xsd:string
http://purl.uniprot.org/citations/17503331http://purl.uniprot.org/core/title"Defining the cause of skewed X-chromosome inactivation in X-linked mental retardation by use of a mouse model."xsd:string
http://purl.uniprot.org/citations/17503331http://purl.uniprot.org/core/volume"80"xsd:string
http://purl.uniprot.org/citations/17503331http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/17503331
http://purl.uniprot.org/citations/17503331http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/17503331
http://purl.uniprot.org/uniprot/#_A0A0G2JGH3-mappedCitation-17503331http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/17503331
http://purl.uniprot.org/uniprot/#_A0A0G2JGR1-mappedCitation-17503331http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/17503331
http://purl.uniprot.org/uniprot/#_A0A0G2JED2-mappedCitation-17503331http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/17503331
http://purl.uniprot.org/uniprot/#_A0A0G2JF35-mappedCitation-17503331http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/17503331
http://purl.uniprot.org/uniprot/#_A0A0G2JF42-mappedCitation-17503331http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/17503331
http://purl.uniprot.org/uniprot/#_A0A0G2JFA5-mappedCitation-17503331http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/17503331