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

Author:

Halldorsson Bjarni V.12ORCID,Palsson Gunnar1ORCID,Stefansson Olafur A.1,Jonsson Hakon1ORCID,Hardarson Marteinn T.1ORCID,Eggertsson Hannes P.13ORCID,Gunnarsson Bjarni1,Oddsson Asmundur1ORCID,Halldorsson Gisli H.1ORCID,Zink Florian1,Gudjonsson Sigurjon A.1,Frigge Michael L.1ORCID,Thorleifsson Gudmar1ORCID,Sigurdsson Asgeir1,Stacey Simon N.1,Sulem Patrick1ORCID,Masson Gisli1ORCID,Helgason Agnar14ORCID,Gudbjartsson Daniel F.13ORCID,Thorsteinsdottir Unnur15ORCID,Stefansson Kari15ORCID

Affiliation:

1. deCODE genetics, Amgen, Sturlugata 8, Reykjavik, Iceland.

2. School of Science and Engineering, Reykjavik University, Reykjavik, Iceland.

3. School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland.

4. Department of Anthropology, University of Iceland, Reykjavik, Iceland.

5. Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.

Abstract

Human recombination and mutation mapped Genetic recombination is an essential process in generating genetic diversity. Recombination occurs both through the shuffling of maternal and paternal chromosomes and through mutations generated by resolution of the physical breaks necessary for this process. Halldorsson et al. sequenced the full genomes of parents and offspring to create a map of human recombination and estimate the relationship with de novo mutations. Interestingly, transcribed regions of the genome were less likely to have crossovers, suggesting that there may be selection to reduce changes in genetic sequences via recombination or mutation in these regions. Science , this issue p. eaau1043

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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