Characterizing mutagenic effects of recombination through a sequence-level genetic map

• DOI: 10.1126/science.aau1043
• Publication Date: 2019-01-25T00:09:24Z
• Authors: Bjarni V. Halldor...; Gunnar Palsson; Olafur A. Stefansson; Hakon Jonsson; Marteinn T. Harda...; Hannes P. Eggertsson; Bjarni Gunnarsson; Asmundur Oddsson; Gisli H. Halldorsson; Florian Zink; Sigurjon A. Gudjo...; Michael L. Frigge; Gudmar Thorleifsson; Asgeir Sigurdsson; Simon N. Stacey; Patrick Sulem; Gisli Masson; Agnar Helgason; Daniel F. Gudbjar...; Unnur Thorsteinsd...; Kari Stefansson
• Keywords: Synaptonemal complex; Chromosomal crossover; Sequence (biology)

Genetic diversity arises from recombination and de novo mutation (DNM). Using a combination of microarray genotype whole-genome sequence data on parent-child pairs, we identified 4,531,535 crossover recombinations 200,435 DNMs. The resulting genetic map has resolution 682 base pairs. Crossovers exhibit mutagenic effect, with overrepresentation DNMs within 1 kilobase crossovers in males females. In females, higher rate is observed up to 40 kilobases crossovers, particularly for complex which increase maternal age. We 35 loci associated the or location demonstrating extensive control meiotic recombination, our results highlight genes linked formation synaptonemal as determinants crossovers.