| http://purl.uniprot.org/citations/12730694 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12730694 | http://www.w3.org/2000/01/rdf-schema#comment | "Nearly all human genetic disorders result from a limited repertoire of mutations in an associated gene or its regulatory elements. We recently described an individual with an inherited form of anemia (alpha-thalassemia) who has a deletion that results in a truncated, widely expressed gene (LUC7L) becoming juxtaposed to a structurally normal alpha-globin gene (HBA2). Although it retains all of its local and remote cis-regulatory elements, expression of HBA2 is silenced and its CpG island becomes completely methylated early during development. Here we show that in the affected individual, in a transgenic model and in differentiating embryonic stem cells, transcription of antisense RNA mediates silencing and methylation of the associated CpG island. These findings identify a new mechanism underlying human genetic disease."xsd:string |
| http://purl.uniprot.org/citations/12730694 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng1157"xsd:string |
| http://purl.uniprot.org/citations/12730694 | http://purl.uniprot.org/core/author | "Higgs D.R."xsd:string |
| http://purl.uniprot.org/citations/12730694 | http://purl.uniprot.org/core/author | "Tufarelli C."xsd:string |
| http://purl.uniprot.org/citations/12730694 | http://purl.uniprot.org/core/author | "Sharpe J.A."xsd:string |
| http://purl.uniprot.org/citations/12730694 | http://purl.uniprot.org/core/author | "Ayyub H."xsd:string |
| http://purl.uniprot.org/citations/12730694 | http://purl.uniprot.org/core/author | "Garrick D."xsd:string |
| http://purl.uniprot.org/citations/12730694 | http://purl.uniprot.org/core/author | "Wood W.G."xsd:string |
| http://purl.uniprot.org/citations/12730694 | http://purl.uniprot.org/core/author | "Stanley J.A."xsd:string |
| http://purl.uniprot.org/citations/12730694 | http://purl.uniprot.org/core/date | "2003"xsd:gYear |
| http://purl.uniprot.org/citations/12730694 | http://purl.uniprot.org/core/name | "Nat Genet"xsd:string |
| http://purl.uniprot.org/citations/12730694 | http://purl.uniprot.org/core/pages | "157-165"xsd:string |
| http://purl.uniprot.org/citations/12730694 | http://purl.uniprot.org/core/title | "Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease."xsd:string |
| http://purl.uniprot.org/citations/12730694 | http://purl.uniprot.org/core/volume | "34"xsd:string |
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