Genetic basis of Y-linked hearing impairment.
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.
Department of Otolaryngology, Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China.
Qiuju
Q
Wang
Yali
Y
Xue
Yujun
Y
Zhang
Quan
Q
Long
Asan
Fengtang
F
Yang
Daniel J
DJ
Turner
Tomas
T
Fitzgerald
Bee Ling
BL
Ng
Yali
Y
Zhao
Yuan
Y
Chen
Qingjie
Q
Liu
Weiyan
W
Yang
Dongyi
D
Han
Michael A
MA
Quail
Harold
H
Swerdlow
John
J
Burton
Ciara
C
Fahey
Zemin
Z
Ning
Matthew E
ME
Hurles
Nigel P
NP
Carter
Huanming
H
Yang
Chris
C
Tyler-Smith
D041322:Chromosomes, Human, Y / Q000235:genetics*; D005260:Female; D015321:Gene Rearrangement / Q000235:genetics; D050173:Genes, Y-Linked / Q000235:genetics*; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree