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Direct estimation of mutations in great apes reveals significant recent human slowdown in the yearly mutation rate

View ORCID ProfileSøren Besenbacher, Christina Hvilsom, View ORCID ProfileTomas Marques-Bonet, View ORCID ProfileThomas Mailund, View ORCID ProfileMikkel Heide Schierup
doi: https://doi.org/10.1101/287821
Søren Besenbacher
1Department of Molecular Medicine (MOMA), DK-8200 Aarhus N, Denmark
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  • For correspondence: besenbacher@clin.au.dk mheide@birc.au.dk
Christina Hvilsom
2Copenhagen Zoo, DK-2000 Frederiksberg, Denmark
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Tomas Marques-Bonet
3Institut Biologia Evolutiva, Universitat Pompeu Fabra/CSIC, Barcelona, Spain
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Thomas Mailund
4Bioinformatics Research Centre, Aarhus University, DK-8000 Aarhus C., Denmark
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Mikkel Heide Schierup
4Bioinformatics Research Centre, Aarhus University, DK-8000 Aarhus C., Denmark
5Department of Bioscience, Aarhus University, DK-8000 Aarhus C., Denmark
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  • For correspondence: besenbacher@clin.au.dk mheide@birc.au.dk
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Abstract

The human mutation rate per generation estimated from trio sequencing has revealed an almost linear relationship with the age of the father and the age of the mother. The yearly trio-based mutation rate estimate of ~0.43×10−9 is markedly lower than prior indirect estimates of ~1×10−9 per year from phylogenetic comparisons of the great apes. This suggests either a slowdown over the past 10 million years or an inaccurate interpretation of the fossil record. Here we use sequencing of chimpanzee, gorilla and orangutan trios and find that each species has higher estimated mutation rates per year by factors of 1.67+/− 0.22, 1.54+/− 0.2 and 1.84+/− 0.19, respectively. These estimates suggest a very recent and appreciable slowdown in human mutation rate, and, if extrapolated over the great apes phylogeny, yields divergence estimates much more in line with the fossil record and the biogeography.

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Posted March 23, 2018.
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Direct estimation of mutations in great apes reveals significant recent human slowdown in the yearly mutation rate
Søren Besenbacher, Christina Hvilsom, Tomas Marques-Bonet, Thomas Mailund, Mikkel Heide Schierup
bioRxiv 287821; doi: https://doi.org/10.1101/287821
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Direct estimation of mutations in great apes reveals significant recent human slowdown in the yearly mutation rate
Søren Besenbacher, Christina Hvilsom, Tomas Marques-Bonet, Thomas Mailund, Mikkel Heide Schierup
bioRxiv 287821; doi: https://doi.org/10.1101/287821

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