| Literature DB >> 30679340 |
Bjarni V Halldorsson1,2, Gunnar Palsson3, Olafur A Stefansson3, Hakon Jonsson3, Marteinn T Hardarson3, Hannes P Eggertsson3,4, Bjarni Gunnarsson3, Asmundur Oddsson3, Gisli H Halldorsson3, Florian Zink3, Sigurjon A Gudjonsson3, Michael L Frigge3, Gudmar Thorleifsson3, Asgeir Sigurdsson3, Simon N Stacey3, Patrick Sulem3, Gisli Masson3, Agnar Helgason3,5, Daniel F Gudbjartsson3,4, Unnur Thorsteinsdottir3,6, Kari Stefansson1,6.
Abstract
Genetic diversity arises from recombination and de novo mutation (DNM). Using a combination of microarray genotype and whole-genome sequence data on parent-child pairs, we identified 4,531,535 crossover recombinations and 200,435 DNMs. The resulting genetic map has a resolution of 682 base pairs. Crossovers exhibit a mutagenic effect, with overrepresentation of DNMs within 1 kilobase of crossovers in males and females. In females, a higher mutation rate is observed up to 40 kilobases from crossovers, particularly for complex crossovers, which increase with maternal age. We identified 35 loci associated with the recombination rate or the location of crossovers, demonstrating extensive genetic control of meiotic recombination, and our results highlight genes linked to the formation of the synaptonemal complex as determinants of crossovers.Entities:
Mesh：
Year: 2019 PMID： 30679340 DOI： 10.1126/science.aau1043
Source DB: PubMed Journal: Science ISSN： 0036-8075 Impact factor: 47.728