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Mol Biol Evol. 2019 Aug 19. pii: msz192. doi: 10.1093/molbev/msz192. [Epub ahead of print]

Direct Evidence of an Increasing Mutational Load in Humans.

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Department of Biology.
Department of Mathematics and Statistics, University of Ottawa, Ottawa, ON, Canada.


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. While 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.


(GWAS); Combined Annotation Dependent Depletion (CADD); Genome-Wide Association Study; Single Nucleotide Polymorphism (SNP); ancient DNA; range expansion; selection


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