Article
Genetic variants associated with mosaic Y chromosome loss highlight cell cycle genes and overlap with cancer susceptibility.
Nature genetics - 1 May 2017
Wright Daniel J, Day Felix R, Kerrison Nicola D, Zink Florian, Cardona Alexia, Sulem Patrick, Thompson Deborah J, Sigurjonsdottir Svanhvit, Gudbjartsson Daniel F, Helgason Agnar, Chapman J Ross, Jackson Steve P, Langenberg Claudia, Wareham Nicholas J, Scott Robert A, Thorsteindottir Unnur, Ong Ken K, Stefansson Kari, Perry John R B
Abstract excerpt
The Y chromosome is frequently lost in hematopoietic cells, which represents the most common somatic alteration in men. However, the mechanisms that regulate mosaic loss of chromosome Y (mLOY), and its clinical relevance, are unknown. We used genotype-array-intensity data and sequence reads from 85,542 men to identify 19 genomic regions (P < 5 × 10-8) that are associated with mLOY. Cumulatively, these loci also...
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