| Literature DB >> 23352258 |
Qiuju Wang1, Yali Xue, Yujun Zhang, Quan Long, Fengtang Yang, Daniel J Turner, Tomas Fitzgerald, Bee Ling Ng, Yali Zhao, Yuan Chen, Qingjie Liu, Weiyan Yang, Dongyi Han, Michael A Quail, Harold Swerdlow, John Burton, Ciara Fahey, Zemin Ning, Matthew E Hurles, Nigel P Carter, Huanming Yang, Chris Tyler-Smith.
Abstract
A single Mendelian trait has been mapped to the human Y chromosome: Y-linked hearing impairment. The molecular basis of this disorder is unknown. Here, we report the detailed characterization of the DFNY1 Y chromosome and its comparison with a closely related Y chromosome from an unaffected branch of the family. The DFNY1 chromosome carries a complex rearrangement, including duplication of several noncontiguous segments of the Y chromosome and insertion of ∼160 kb of DNA from chromosome 1, in the pericentric region of Yp. This segment of chromosome 1 is derived entirely from within a known hearing impairment locus, DFNA49. We suggest that a third copy of one or more genes from the shared segment of chromosome 1 might be responsible for the hearing-loss phenotype.Entities:
Mesh：
Year: 2013 PMID： 23352258 PMCID： PMC3567277 DOI： 10.1016/j.ajhg.2012.12.015
Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025