Direct Evidence of an Increasing Mutational Load in Humans

Abstract The extent to which selection has shaped present-day human populations has attracted intense scrutiny, and examples of local adaptations abound. However, the evolutionary trajectory of alleles that, today, are deleterious has received much less attention. To address this question, the genom...

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Bibliographic Details
Published in:Molecular biology and evolution 2019-12, Vol.36 (12), p.2823-2829
Main Author: Aris-Brosou, Stéphane
Format: Article
Language:English
Subjects:
Alleles
Disease - genetics
Gene Frequency
Genetic Load
Genome, Human
Homozygote
Humans
Mutation
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Summary:Abstract The extent to which selection has shaped present-day human populations has attracted intense scrutiny, and examples of local adaptations abound. However, the evolutionary trajectory of alleles that, today, are deleterious has received much less attention. To address this question, the genomes of 2,062 individuals, including 1,179 ancient humans, were reanalyzed to assess how frequencies of risk alleles and their homozygosity changed through space and time in Europe over the past 45,000 years. Although the overall deleterious homozygosity has consistently decreased, risk alleles have steadily increased in frequency over that period of time. Those that increased most are associated with diseases such as asthma, Crohn disease, diabetes, and obesity, which are highly prevalent in present-day populations. These findings may not run against the existence of local adaptations but highlight the limitations imposed by drift and population dynamics on the strength of selection in purging deleterious mutations from human populations.
ISSN:0737-4038
1537-1719
DOI:10.1093/molbev/msz192