Genetic basis of Y-linked hearing impairment

Qiuju Wang; 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

doi:10.1016/j.ajhg.2012.12.015

Genetic basis of Y-linked hearing impairment

Qiuju Wang
, 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

Research output: Contribution to journal › Article › peer-review

29 Scopus citations

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.

Original language	English
Pages (from-to)	301-306
Number of pages	6
Journal	American Journal of Human Genetics
Volume	92
Issue number	2
DOIs	https://doi.org/10.1016/j.ajhg.2012.12.015
State	Published - 7 Feb 2013
Externally published	Yes

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10.1016/j.ajhg.2012.12.015

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Wang, Q., Xue, Y., Zhang, Y., Long, Q., Yang, F., Turner, D. J., Fitzgerald, T., Ng, B. L., Zhao, Y., Chen, Y., Liu, Q., Yang, W., Han, D., Quail, M. A., Swerdlow, H., Burton, J., Fahey, C., Ning, Z., Hurles, M. E., ... Tyler-Smith, C. (2013). Genetic basis of Y-linked hearing impairment. American Journal of Human Genetics, 92(2), 301-306. https://doi.org/10.1016/j.ajhg.2012.12.015

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title = "Genetic basis of Y-linked hearing impairment",

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.",

author = "Qiuju Wang and Yali Xue and Yujun Zhang and Quan Long and Fengtang Yang and Turner, \{Daniel J.\} and Tomas Fitzgerald and Ng, \{Bee Ling\} and Yali Zhao and Yuan Chen and Qingjie Liu and Weiyan Yang and Dongyi Han and Quail, \{Michael A.\} and Harold Swerdlow and John Burton and Ciara Fahey and Zemin Ning and Hurles, \{Matthew E.\} and Carter, \{Nigel P.\} and Huanming Yang and Chris Tyler-Smith",

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doi = "10.1016/j.ajhg.2012.12.015",

language = "英语",

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Wang, Q, Xue, Y, Zhang, Y, Long, Q, 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 2013, 'Genetic basis of Y-linked hearing impairment', American Journal of Human Genetics, vol. 92, no. 2, pp. 301-306. https://doi.org/10.1016/j.ajhg.2012.12.015

TY - JOUR

T1 - Genetic basis of Y-linked hearing impairment

AU - Wang, Qiuju

AU - Xue, Yali

AU - Zhang, Yujun

AU - Long, Quan

AU - Yang, Fengtang

AU - Turner, Daniel J.

AU - Fitzgerald, Tomas

AU - Ng, Bee Ling

AU - Zhao, Yali

AU - Chen, Yuan

AU - Liu, Qingjie

AU - Yang, Weiyan

AU - Han, Dongyi

AU - Quail, Michael A.

AU - Swerdlow, Harold

AU - Burton, John

AU - Fahey, Ciara

AU - Ning, Zemin

AU - Hurles, Matthew E.

AU - Carter, Nigel P.

AU - Yang, Huanming

AU - Tyler-Smith, Chris

PY - 2013/2/7

Y1 - 2013/2/7

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/84873729269

U2 - 10.1016/j.ajhg.2012.12.015

DO - 10.1016/j.ajhg.2012.12.015

M3 - 文章

C2 - 23352258

AN - SCOPUS:84873729269

SN - 0002-9297

VL - 92

SP - 301

EP - 306

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 2

ER -

Genetic basis of Y-linked hearing impairment

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