Non-crossover gene conversions show strong GC bias and unexpected clustering in humans

• DOI: 10.7554/elife.04637
• Publication Date: 2015-03-24T12:42:20Z
• Authors: Amy L Williams; Giulio Genovese; Thomas Dyer; Nicolas Altemose; Katherine Truax; Goo Jun; Nick Patterson; Simon R Myers; Joanne E Curran; Ravi Duggirala; John Blangero; David Reich; Molly Przeworski
• Keywords: Male; 0301 basic medicine; haplotypes; haplotype; QH301-705.5; Science; Gene Conversion; 610; GC-bias; Polymorphism, Single Nucleotide; 03 medical and health sciences; complex crossover; 616; Cluster Analysis; Humans; human; Crossing Over, Genetic; Biology (General); Alleles; Base Composition; 0303 health sciences; gene conversion; Base Sequence; Q; R; recombination; Pedigree; Genes and Chromosomes; Medicine; Female; non-crossover

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 first genome-wide study NCO events humans. Using SNP array data from 98 meioses, we identified 103 sites affected by NCO, which 50/52 were confirmed sequence data. Overlap with double strand break (DSB) hotspots indicates that most are likely meiotic origin. estimate a site involved at rate 5.9 × 10−6/bp/generation, consistent sperm-typing studies, and infer tract lengths span least an order magnitude. Observed show strong allelic bias heterozygous AT/GC SNPs, 68% (58–78%) transmitting GC alleles (p = 5 10−4). Strikingly, 4 15 regions resequencing data, multiple disjoint tracts cluster close proximity (∼20–30 kb), phenomenon not previously mammals.