Evidence map›Paper›PMID 29187508›Full record

ArticleGenetics2018

Relaxed Selection During a Recent Human Expansion.

Stephan Peischl, Isabelle Dupanloup, Adrien Foucal, Michèle Jomphe, Vanessa Bruat, Jean-Christophe Grenier, Alexandre Gouy, K J Gilbert, Elias Gbeha, Lars Bosshard and 6 more

Abstract read
In one paragraph

Article in Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.

0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

28 citing papers in PubMed.

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  20. How Much DoesGenetics · 2020
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

16 authors.

Stephan PeischlComputational 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.ORCID 0000-0002-0474-6104
Isabelle DupanloupComputational and Molecular Population Genetics Laboratory, Institute of Ecology and Evolution, University of Berne, 3012, Switzerland.
Adrien FoucalComputational and Molecular Population Genetics Laboratory, Institute of Ecology and Evolution, University of Berne, 3012, Switzerland.
Michèle JompheBalsac Project, University of Quebec at Chicoutimi, Saguenay, Quebec, G7H 2B1 Canada.
Vanessa BruatHôpital Ste-Justine, University of Montréal, Quebec H3T1C5, Canada.ORCID 0000-0001-8058-8999
Jean-Christophe GrenierHôpital Ste-Justine, University of Montréal, Quebec H3T1C5, Canada.
Alexandre GouyComputational and Molecular Population Genetics Laboratory, Institute of Ecology and Evolution, University of Berne, 3012, Switzerland.
K J GilbertComputational and Molecular Population Genetics Laboratory, Institute of Ecology and Evolution, University of Berne, 3012, Switzerland.ORCID 0000-0002-8507-2294
Elias GbehaHôpital Ste-Justine, University of Montréal, Quebec H3T1C5, Canada.ORCID 0000-0002-9205-3235
Lars BosshardComputational and Molecular Population Genetics Laboratory, Institute of Ecology and Evolution, University of Berne, 3012, Switzerland.
Elodie Hip-KiHôpital Ste-Justine, University of Montréal, Quebec H3T1C5, Canada.
Mawussé AgbessiHôpital Ste-Justine, University of Montréal, Quebec H3T1C5, Canada.
Alan HodgkinsonHôpital Ste-Justine, University of Montréal, Quebec H3T1C5, Canada.
Hélène VézinaBalsac Project, University of Quebec at Chicoutimi, Saguenay, Quebec, G7H 2B1 Canada.
Philip AwadallaHôpital Ste-Justine, University of Montréal, Quebec H3T1C5, Canada.
Laurent ExcoffierComputational 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.ORCID 0000-0002-7507-6494

Funding

Medical Research Council MR/L016311/1
6 · The paper itself

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 six to nine generations and cannot be explained by differential inbreeding, but are consistent with relaxed selection mainly due to higher rates of genetic drift on the wave front. Demographic inference and modeling of the evolution of rare variants suggest lower effective size on the front, and lead to an estimation of selection coefficients that increase with conservation scores. Even though range expansions have had a relatively limited impact on the overall fitness of French Canadians, they could explain the higher prevalence of recessive genetic diseases in recently settled regions of Quebec.

Indexed as

Genetics, PopulationModels, GeneticSelection, GeneticAlgorithmsAllelesBiological EvolutionComputer SimulationDemographyEvolution, MolecularGene FrequencyGene OntologyGenetic FitnessGenetic VariationHumansMutationPolymorphism, Single Nucleotidegenetic driftmutation loadQuebecrange expansion

Identifiers

PMID29187508
PMCPMC5788536

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.