- Abstract:
-
The Y-chromosome is frequently lost in hematopoietic cells, representing the most common somatic mutation in men. However, the mechanisms regulating mosaic loss of chromosome-Y (mLOY), and its clinical relevance, are unknown. Using genotype array intensity data and sequence reads in 85,542 men, we identify 19 genomic regions (P<5x10-8) associated with mLOY. Cumulatively, these loci also predicted X-chromosome loss in women (N=96,123, P=4x10-6). Additional epigenome-wide methylation anal...
Expand abstract - Publication status:
- Published
- Peer review status:
- Peer reviewed
- Version:
- Accepted manuscript
- Files:
-
-
(pdf, 526.8kb)
-
- Publisher copy:
- 10.1038/ng.3821
-
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- Publisher:
- Nature Publishing Group Publisher's website
- Journal:
- Nature Genetics Journal website
- Volume:
- 49
- Issue:
- 5
- Pages:
- 674-679
- Publication date:
- 2017-03-05
- Acceptance date:
- 2017-02-26
- DOI:
- ISSN:
-
1061-4036 and 1546-1718
- Pubs id:
-
pubs:687907
- URN:
-
uri:cf28dac2-a0b4-465d-a1a9-be7f3e69b57c
- UUID:
-
uuid:cf28dac2-a0b4-465d-a1a9-be7f3e69b57c
- Local pid:
- pubs:687907
- Language:
- English
- Keywords:
- Copyright holder:
- Macmillan Publishers Limited
- Copyright date:
- 2017
- Notes:
- © 2017 Macmillan Publishers Limited, part of Springer Nature. All rights reserved.
Journal article
Genetic variants associated with mosaic Y chromosome loss highlight cell cycle genes and overlap with cancer susceptibility.
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