Copy number variation in the human Y chromosome in the UK population
File(s)
Author(s)
Type
Journal Article
Abstract
We have assessed copy number variation (CNV) in the male-specific part of the human Y chromosome discovered by array comparative genomic hybridization (array-CGH) in 411 apparently healthy UK males, and validated the findings using SNP genotype intensity data available for 149 of them. After manual curation taking account of the complex duplicated structure of Y-chromosomal sequences, we discovered 22 curated CNV events considered validated or likely, mean 0.93 (range 0–4) per individual. 16 of these were novel. Curated CNV events ranged in size from <1 kb to >3 Mb, and in frequency from 1/411 to 107/411. Of the 24 protein-coding genes or gene families tested, nine showed CNV. These included a large duplication encompassing the AMELY and TBL1Y genes that probably has no phenotypic effect, partial deletions of the TSPY cluster and AZFc region that may influence spermatogenesis, and other variants with unknown functional implications, including abundant variation in the number of RBMY genes and/or pseudogenes, and a novel complex duplication of two segments overlapping the AZFa region and including the 3′ end of the UTY gene.
Date Issued
2015-05-10
Date Acceptance
2015-04-28
Citation
Human Genetics, 2015, 134 (7), pp.789-800
ISSN
0340-6717
Publisher
Springer Verlag
Start Page
789
End Page
800
Journal / Book Title
Human Genetics
Volume
134
Issue
7
Copyright Statement
© The Author(s) 2015. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
Description Note
Erratum (https://dx.doi.org/10.1007%2Fs00439-015-1565-2): The second author’s initial was missing, and the fifth to eighth authors’ initials were incorrect. The correct names are Tomas W. Fitzgerald, Blair H. Smith, Anna F. Dominiczak, Andrew D. Morris, and David J. Porteous.
The complete author list is given below:
Wei Wei, Tomas W. Fitzgerald, Qasim Ayub, Andrea Massaia, Blair H. Smith, Anna F. Dominiczak, Andrew D. Morris, David J. Porteous, Matthew E. Hurles, Chris Tyler-Smith, Yali Xue
The complete author list is given below:
Wei Wei, Tomas W. Fitzgerald, Qasim Ayub, Andrea Massaia, Blair H. Smith, Anna F. Dominiczak, Andrew D. Morris, David J. Porteous, Matthew E. Hurles, Chris Tyler-Smith, Yali Xue
Identifier
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000355930700009&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
Subjects
Science & Technology
Life Sciences & Biomedicine
Genetics & Heredity
AZFC REGION
LONG ARM
DELETION
DUPLICATION
MARKER
GENOME
MINISATELLITE
POLYMORPHISMS
INSERTION
LINEAGES
Publication Status
Published