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Genetic Basis of Y-Linked Hearing Impairment.
by:
Qiuju Wang ,
Yali Xue ,
Yujun Zhang ,
Quan Long ,
Asan ,
Fengtang Yang ,
Daniel J. Turner ,
Tomas Fitzgerald ,
Bee Ling L. 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
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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. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
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