| http://purl.uniprot.org/citations/18425126 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18425126 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18425126 | http://www.w3.org/2000/01/rdf-schema#comment | "X-chromosome inactivation is the mammalian dosage compensation mechanism by which transcription of X-linked genes is equalized between females and males. In an N-ethyl-N-nitrosourea (ENU) mutagenesis screen on mice for modifiers of epigenetic reprogramming, we identified the MommeD1 (modifier of murine metastable epialleles) mutation as a semidominant suppressor of variegation. MommeD1 shows homozygous female-specific mid-gestation lethality and hypomethylation of the X-linked gene Hprt1, suggestive of a defect in X inactivation. Here we report that the causative point mutation lies in a previously uncharacterized gene, Smchd1 (structural maintenance of chromosomes hinge domain containing 1). We find that SmcHD1 is not required for correct Xist expression, but localizes to the inactive X and has a role in the maintenance of X inactivation and the hypermethylation of CpG islands associated with the inactive X. This finding links a group of proteins normally associated with structural aspects of chromosome biology with epigenetic gene silencing."xsd:string |
| http://purl.uniprot.org/citations/18425126 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.142"xsd:string |
| http://purl.uniprot.org/citations/18425126 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.142"xsd:string |
| http://purl.uniprot.org/citations/18425126 | http://purl.uniprot.org/core/author | "Dunwoodie S.L."xsd:string |
| http://purl.uniprot.org/citations/18425126 | http://purl.uniprot.org/core/author | "Dunwoodie S.L."xsd:string |
| http://purl.uniprot.org/citations/18425126 | http://purl.uniprot.org/core/author | "Sparrow D.B."xsd:string |
| http://purl.uniprot.org/citations/18425126 | http://purl.uniprot.org/core/author | "Sparrow D.B."xsd:string |
| http://purl.uniprot.org/citations/18425126 | http://purl.uniprot.org/core/author | "Hilton D.J."xsd:string |
| http://purl.uniprot.org/citations/18425126 | http://purl.uniprot.org/core/author | "Hilton D.J."xsd:string |
| http://purl.uniprot.org/citations/18425126 | http://purl.uniprot.org/core/author | "Pang Z."xsd:string |
| http://purl.uniprot.org/citations/18425126 | http://purl.uniprot.org/core/author | "Pang Z."xsd:string |
| http://purl.uniprot.org/citations/18425126 | http://purl.uniprot.org/core/author | "Kay G.F."xsd:string |
| http://purl.uniprot.org/citations/18425126 | http://purl.uniprot.org/core/author | "Kay G.F."xsd:string |
| http://purl.uniprot.org/citations/18425126 | http://purl.uniprot.org/core/author | "Gendrel A.V."xsd:string |
| http://purl.uniprot.org/citations/18425126 | http://purl.uniprot.org/core/author | "Gendrel A.V."xsd:string |
| http://purl.uniprot.org/citations/18425126 | http://purl.uniprot.org/core/author | "Whitelaw E."xsd:string |
| http://purl.uniprot.org/citations/18425126 | http://purl.uniprot.org/core/author | "Whitelaw E."xsd:string |
| http://purl.uniprot.org/citations/18425126 | http://purl.uniprot.org/core/author | "Blewitt M.E."xsd:string |
| http://purl.uniprot.org/citations/18425126 | http://purl.uniprot.org/core/author | "Blewitt M.E."xsd:string |
| http://purl.uniprot.org/citations/18425126 | http://purl.uniprot.org/core/author | "Craig J.M."xsd:string |
| http://purl.uniprot.org/citations/18425126 | http://purl.uniprot.org/core/author | "Craig J.M."xsd:string |
| http://purl.uniprot.org/citations/18425126 | http://purl.uniprot.org/core/author | "Brockdorff N."xsd:string |
| http://purl.uniprot.org/citations/18425126 | http://purl.uniprot.org/core/author | "Brockdorff N."xsd:string |