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Relaxed Selection During a Recent Human Expansion.

Stephan Peischl1,2,3, Isabelle Dupanloup4,2,5, Adrien Foucal4,2

  • 1Computational and Molecular Population Genetics Laboratory, Institute of Ecology and Evolution, University of Berne, 3012, Switzerland stephan.peischl@bioinformatics.unibe.ch laurent.excoffier@iee.unibe.ch.

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Summary
This summary is machine-generated.

Human range expansions can increase harmful mutations. French Canadians colonizing Quebec show more deleterious mutations on settlement wave fronts due to genetic drift, potentially explaining higher disease prevalence.

Keywords:
Quebecgenetic driftmutation loadrange expansion

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Area of Science:

  • Population genetics
  • Human evolution
  • Genomics

Background:

  • Human colonization involves range expansions, potentially altering genetic diversity.
  • Expanding populations may accumulate more deleterious mutations at wave fronts.
  • French Canadians represent a unique population for studying range expansion effects.

Purpose of the Study:

  • To investigate the impact of range expansion on genomic diversity in French Canadians.
  • To test the hypothesis that deleterious mutations increase in frequency on expanding wave fronts.
  • To understand the role of genetic drift and selection in shaping genetic diversity during colonization.

Main Methods:

  • Utilized historical records and genealogies of ~4000 individuals.
  • Selected individuals from colonizing wave fronts and settlement cores.
  • Compared exomic diversity between front and core populations.

Main Results:

  • New and low-frequency variants were significantly more deleterious in front individuals.
  • Deleterious mutations were at higher frequencies in front individuals compared to core individuals.
  • Front individuals showed a two-fold increased likelihood of homozygosity for rare, deleterious mutations.

Conclusions:

  • Range expansions, like the colonization of Quebec, can lead to increased deleterious mutation frequencies due to relaxed selection and genetic drift.
  • These genetic changes, occurring over 6-9 generations, are not explained by inbreeding but by demographic factors.
  • The findings suggest that range expansions can contribute to the higher prevalence of recessive genetic diseases in newly settled areas.