Genetic Basis of Y-Linked Hearing Impairment | Zendy

Qiuju Wang | Zendy; Yali Xue | Zendy; Goo Jun | Zendy; Quan Long | Zendy; Asan | Zendy; Fengtang Yang | Zendy; Daniel J. Turner | Zendy; Tomas Fitzgerald | Zendy; Bee Ling Ng | Zendy; Yali Zhao | Zendy; Yuan Chen | Zendy; Qing-Jie Liu | Zendy; Yang Wei–yan | Zendy; Dongyi Han | Zendy; Michael A. Quail | Zendy; Harold Swerdlow | Zendy; John H. Burton | Zendy; Ciara Fahey | Zendy; Zemin Ning | Zendy; Matthew E. Hurles | Zendy; N. P. Carter | Zendy; Huanming Yang | Zendy; Chris TylerSmith | Zendy

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Genetic Basis of Y-Linked Hearing Impairment

Author(s) -

Qiuju Wang,

Yali Xue,

Goo Jun,

Quan Long,

Asan,

Fengtang Yang,

Daniel J. Turner,

Tomas Fitzgerald,

Bee Ling Ng,

Yali Zhao,

Yuan Chen,

Qing-Jie Liu,

Yang Wei–yan,

Dongyi Han,

Michael A. Quail,

Harold Swerdlow,

John H. Burton,

Ciara Fahey,

Zemin Ning,

Matthew E. Hurles,

N. P. Carter,

Huanming Yang,

Chris TylerSmith

Publication year - 2013

Publication title -

the american journal of human genetics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 6.661

H-Index - 302

eISSN - 1537-6605

pISSN - 0002-9297

DOI - 10.1016/j.ajhg.2012.12.015

Subject(s) - chromosome 22 , chromosome 21 , genetics , biology , locus (genetics) , chromosome 16 , gene duplication , chromosome , chromosome 15 , chromosome 17 (human) , chromosome 4 , chromosome 19 , chromosome 12 , chromosome 3 , gene

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.

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