Non-crossover gene conversions show strong GC bias and unexpected clustering in humans
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Author
Williams, Amy L
Genovese, Giulio
Dyer, Thomas
Altemose, Nicolas
Truax, Katherine
Jun, Goo
Patterson, Nick
Myers, Simon R
Curran, Joanne E
Duggirala, Ravi
Blangero, John
Przeworski, Molly
Note: Order does not necessarily reflect citation order of authors.
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https://doi.org/10.7554/eLife.04637Metadata
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Williams, A. L., G. Genovese, T. Dyer, N. Altemose, K. Truax, G. Jun, N. Patterson, et al. 2015. “Non-crossover gene conversions show strong GC bias and unexpected clustering in humans.” eLife 4 (1): e04637. doi:10.7554/eLife.04637. http://dx.doi.org/10.7554/eLife.04637.Abstract
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 most of the events are likely of meiotic origin. We estimate that a site is involved in a NCO at a rate of 5.9 × 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 with resequencing data, multiple disjoint NCO tracts cluster in close proximity (∼20–30 kb), a phenomenon not previously seen in mammals. DOI: http://dx.doi.org/10.7554/eLife.04637.001Other Sources
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4404656/pdf/Terms of Use
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