PT  - JOURNAL ARTICLE
AU  - Amy L. Williams
AU  - Giulio Genovese
AU  - Thomas Dyer
AU  - Nicolas Altemose
AU  - Katherine Truax
AU  - Goo Jun
AU  - Nick Patterson
AU  - Simon R. Myers
AU  - Joanne E. Curran
AU  - Ravi Duggirala
AU  - John Blangero
AU  - David Reich
AU  - Molly Przeworski
AU  - T2D-GENES Consortium
TI  - Non-crossover gene conversions show strong GC bias and unexpected clustering in humans
AID  - 10.1101/009175
DP  - 2015 Jan 01
TA  - bioRxiv
PG  - 009175
4099  - http://biorxiv.org/content/early/2015/01/08/009175.short
4100  - http://biorxiv.org/content/early/2015/01/08/009175.full
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.