Genetic basis of Y-linked hearing impairment.

Authors :: Wang Q
Xue Y
Zhang Y
Long Q
Asan
Yang F
Turner DJ
Fitzgerald T
Ng BL
Zhao Y
Chen Y
Liu Q
Yang W
Han D
Quail MA
Swerdlow H
Burton J
Fahey C
Ning Z
Hurles ME
Carter NP
Yang H
Tyler-Smith C
Source :: American journal of human genetics [Am J Hum Genet] 2013 Feb 07; Vol. 92 (2), pp. 301-6. Date of Electronic Publication: 2013 Jan 24.
Publication Year :: 2013
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.<br /> (Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)