| http://purl.uniprot.org/citations/26040210 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/26040210 | http://www.w3.org/2000/01/rdf-schema#comment | "Pseudoautosomal region 1 (PAR1) contains SHOX, in addition to seven highly conserved non-coding DNA elements (CNEs) with cis-regulatory activity. Microdeletions involving SHOX exons 1-6a and/or the CNEs result in idiopathic short stature (ISS) and Leri-Weill dyschondrosteosis (LWD). Here, we report six rare copy-number variations (CNVs) in PAR1 identified through copy-number analyzes of 245 ISS/LWD patients and 15 unaffected individuals. The six CNVs consisted of three microduplications encompassing SHOX and some of the CNEs, two microduplications in the SHOX 3'-region affecting one or four of the downstream CNEs, and a microdeletion involving SHOX exon 6b and its neighboring CNE. The amplified DNA fragments of two SHOX-containing duplications were detected at chromosomal regions adjacent to the original positions. The breakpoints of a SHOX-containing duplication resided within Alu repeats. A microduplication encompassing four downstream CNEs was identified in an unaffected father-daughter pair, whereas the other five CNVs were detected in ISS patients. These results suggest that microduplications involving SHOX cause ISS by disrupting the cis-regulatory machinery of this gene and that at least some of microduplications in PAR1 arise from Alu-mediated non-allelic homologous recombination. The pathogenicity of other rare PAR1-linked CNVs, such as CNE-containing microduplications and exon 6b-flanking microdeletions, merits further investigation."xsd:string |
| http://purl.uniprot.org/citations/26040210 | http://purl.org/dc/terms/identifier | "doi:10.1038/jhg.2015.53"xsd:string |
| http://purl.uniprot.org/citations/26040210 | http://purl.uniprot.org/core/author | "Fukami M."xsd:string |
| http://purl.uniprot.org/citations/26040210 | http://purl.uniprot.org/core/author | "Hasegawa Y."xsd:string |
| http://purl.uniprot.org/citations/26040210 | http://purl.uniprot.org/core/author | "Hasegawa T."xsd:string |
| http://purl.uniprot.org/citations/26040210 | http://purl.uniprot.org/core/author | "Horikawa R."xsd:string |
| http://purl.uniprot.org/citations/26040210 | http://purl.uniprot.org/core/author | "Nakamura A."xsd:string |
| http://purl.uniprot.org/citations/26040210 | http://purl.uniprot.org/core/author | "Tanaka T."xsd:string |
| http://purl.uniprot.org/citations/26040210 | http://purl.uniprot.org/core/author | "Tanaka H."xsd:string |
| http://purl.uniprot.org/citations/26040210 | http://purl.uniprot.org/core/author | "Tajima T."xsd:string |
| http://purl.uniprot.org/citations/26040210 | http://purl.uniprot.org/core/author | "Kobayashi K."xsd:string |
| http://purl.uniprot.org/citations/26040210 | http://purl.uniprot.org/core/author | "Miyako K."xsd:string |
| http://purl.uniprot.org/citations/26040210 | http://purl.uniprot.org/core/author | "Adachi M."xsd:string |
| http://purl.uniprot.org/citations/26040210 | http://purl.uniprot.org/core/author | "Ogata T."xsd:string |
| http://purl.uniprot.org/citations/26040210 | http://purl.uniprot.org/core/author | "Ozono K."xsd:string |
| http://purl.uniprot.org/citations/26040210 | http://purl.uniprot.org/core/author | "Naiki Y."xsd:string |
| http://purl.uniprot.org/citations/26040210 | http://purl.uniprot.org/core/author | "Asakura Y."xsd:string |
| http://purl.uniprot.org/citations/26040210 | http://purl.uniprot.org/core/author | "Namba N."xsd:string |
| http://purl.uniprot.org/citations/26040210 | http://purl.uniprot.org/core/author | "Yokoya S."xsd:string |
| http://purl.uniprot.org/citations/26040210 | http://purl.uniprot.org/core/author | "Muroya K."xsd:string |
| http://purl.uniprot.org/citations/26040210 | http://purl.uniprot.org/core/author | "Koyama S."xsd:string |
| http://purl.uniprot.org/citations/26040210 | http://purl.uniprot.org/core/author | "Ida S."xsd:string |
| http://purl.uniprot.org/citations/26040210 | http://purl.uniprot.org/core/author | "Fujiwara I."xsd:string |
| http://purl.uniprot.org/citations/26040210 | http://purl.uniprot.org/core/author | "Katsumi M."xsd:string |