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- Title
Copy number variation in the human Y chromosome in the UK population.
- Authors
Wei, Wei; Fitzgerald, Tomas; Ayub, Qasim; Massaia, Andrea; Smith, Blair; Dominiczak, Anna; Morris, Andrew; Porteous, David; Hurles, Matthew; Tyler-Smith, Chris; Xue, Yali
- 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.
- Subjects
Y chromosome; X chromosome abnormalities; SEX chromosomes; GENOMICS; PSEUDOGENES
- Publication
Human Genetics, 2015, Vol 134, Issue 7, p789
- ISSN
0340-6717
- Publication type
Article
- DOI
10.1007/s00439-015-1562-5