RT Journal Article
SR Electronic
T1 Non-crossover gene conversions show strong GC bias and unexpected clustering in humans
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 009175
DO 10.1101/009175
A1 Amy L. Williams
A1 Giulio Genovese
A1 Thomas Dyer
A1 Nicolas Altemose
A1 Katherine Truax
A1 Goo Jun
A1 Nick Patterson
A1 Simon R. Myers
A1 Joanne E. Curran
A1 Ravi Duggirala
A1 John Blangero
A1 David Reich
A1 Molly Przeworski
A1 T2D-GENES Consortium
YR 2015
UL http://biorxiv.org/content/early/2015/01/08/009175.abstract
AB Although the past decade has seen tremendous progress in our understanding of fine-scale recombination, little is known about non-crossover (NCO) gene conversion. We report the first genome-wide study of NCO events in humans. Using SNP array data from 98 meioses, we identified 103 sites affected by NCO, of which 50/52 were confirmed in sequence data. Overlap with double strand break (DSB) hotspots indicates that the events are likely of meiotic origin. We estimate that a site is involved in a NCO at a rate of 5.7×10-6/bp/generation, consistent with sperm-typing studies, and infer that tract lengths span at least an order of magnitude. Observed NCO events show strong allelic bias at heterozygous AT/GC SNPs, with 68% (58–78%) transmitting GC alleles (P=5×10-4). Strikingly, in 4 of 15 regions for which there are also resequencing data, multiple disjoint NCO tracts cluster in close proximity (~20–30 kb), a phenomenon not previously seen in mammals.