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Relaxed selection during a recent human expansion

S. Peischl, I. Dupanloup, A. Foucal, M. Jomphe, V. Bruat, J.-C. Grenier, A. Gouy, E. Gbeha, L. Bosshard, E. Hip-Ki, M. Agbessi, A. Hodgkinson, H. Vézina, P. Awadalla, L. Excoffier
doi: https://doi.org/10.1101/064691
S. Peischl
1CMPG, Institute of Ecology an Evolution, University of Berne, 3012 Berne, Switzerland
2Swiss Institute of Bioinformatics, 1015 Lausanne, Switzerland
3Interfaculty Bioinformatics Unit, University of Berne, 3012 Berne, Switzerland
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I. Dupanloup
1CMPG, Institute of Ecology an Evolution, University of Berne, 3012 Berne, Switzerland
2Swiss Institute of Bioinformatics, 1015 Lausanne, Switzerland
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A. Foucal
1CMPG, Institute of Ecology an Evolution, University of Berne, 3012 Berne, Switzerland
2Swiss Institute of Bioinformatics, 1015 Lausanne, Switzerland
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M. Jomphe
4Balsac Project, University of Quebec at Chicoutimi, Saguenay, Canada
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V. Bruat
5Hôpital Ste-Justine, University of Montreal, Montreal, Canada
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J.-C. Grenier
5Hôpital Ste-Justine, University of Montreal, Montreal, Canada
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A. Gouy
1CMPG, Institute of Ecology an Evolution, University of Berne, 3012 Berne, Switzerland
2Swiss Institute of Bioinformatics, 1015 Lausanne, Switzerland
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E. Gbeha
5Hôpital Ste-Justine, University of Montreal, Montreal, Canada
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L. Bosshard
1CMPG, Institute of Ecology an Evolution, University of Berne, 3012 Berne, Switzerland
2Swiss Institute of Bioinformatics, 1015 Lausanne, Switzerland
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E. Hip-Ki
5Hôpital Ste-Justine, University of Montreal, Montreal, Canada
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M. Agbessi
5Hôpital Ste-Justine, University of Montreal, Montreal, Canada
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A. Hodgkinson
5Hôpital Ste-Justine, University of Montreal, Montreal, Canada
6Department of Medical and Molecular Genetics, Guy's Hospital, King’s College London, London, UK
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H. Vézina
4Balsac Project, University of Quebec at Chicoutimi, Saguenay, Canada
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P. Awadalla
5Hôpital Ste-Justine, University of Montreal, Montreal, Canada
7Ontario Institute for Cancer Research, Department of Molecular Genetics, University of Toronto, Toronto Canada
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L. Excoffier
1CMPG, Institute of Ecology an Evolution, University of Berne, 3012 Berne, Switzerland
2Swiss Institute of Bioinformatics, 1015 Lausanne, Switzerland
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Abstract

Humans have colonized the planet through a series of range expansions, which deeply impacted genetic diversity in newly settled areas and potentially increased the frequency of deleterious mutations on expanding wave fronts. To test this prediction, we studied the genomic diversity of French Canadians who colonized Quebec in the 17th century. We used historical information and records from ∼4000 ascending genealogies to select individuals whose ancestors lived mostly on the colonizing wave front and individuals whose ancestors remained in the core of the settlement. Comparison of exomic diversity reveals that i) both new and low frequency variants are significantly more deleterious in front than in core individuals, ii) equally deleterious mutations are at higher frequencies in front individuals, and iii) front individuals are two times more likely to be homozygous for rare very deleterious mutations present in Europeans. These differences have emerged in the past 6-9 generations and cannot be explained by differential inbreeding, but are consistent with relaxed selection on the wave front. Modeling the evolution of rare variants allowed us to estimate their associated selection coefficients as well as front and core effective sizes. Even though range expansions had a limited impact on the overall fitness of French Canadians, they could explain the higher prevalence of recessive genetic diseases in recently settled regions. Since we show that modern human populations are experiencing differential strength of purifying selection, similar processes might have happened throughout human history, contributing to a higher mutation load in populations that have undergone spatial expansions.

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The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC-ND 4.0 International license.
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Posted July 21, 2016.
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Relaxed selection during a recent human expansion
S. Peischl, I. Dupanloup, A. Foucal, M. Jomphe, V. Bruat, J.-C. Grenier, A. Gouy, E. Gbeha, L. Bosshard, E. Hip-Ki, M. Agbessi, A. Hodgkinson, H. Vézina, P. Awadalla, L. Excoffier
bioRxiv 064691; doi: https://doi.org/10.1101/064691
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Relaxed selection during a recent human expansion
S. Peischl, I. Dupanloup, A. Foucal, M. Jomphe, V. Bruat, J.-C. Grenier, A. Gouy, E. Gbeha, L. Bosshard, E. Hip-Ki, M. Agbessi, A. Hodgkinson, H. Vézina, P. Awadalla, L. Excoffier
bioRxiv 064691; doi: https://doi.org/10.1101/064691

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