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. 2024 Jun 1;41(6):msae094.
doi: 10.1093/molbev/msae094.

Measuring the Efficiency of Purging by non-random Mating in Human Populations

Romain Laurent  1 , Laure Gineau  2 , José Utge  1 , Sophie Lafosse  1 , Chan Leakhena Phoeung  3 , Tatyana Hegay  4 , Robert Olaso  5 , Anne Boland  5 , Jean-François Deleuze  5 , Bruno Toupance  1   6 , Evelyne Heyer  1 , Anne-Louise Leutenegger  7 , Raphaëlle Chaix  1
Affiliations

Measuring the Efficiency of Purging by non-random Mating in Human Populations

Romain Laurent et al. Mol Biol Evol. .

Abstract

Human populations harbor a high concentration of deleterious genetic variants. Here, we tested the hypothesis that non-random mating practices affect the distribution of these variants, through exposure in the homozygous state, leading to their purging from the population gene pool. To do so, we produced whole-genome sequencing data for two pairs of Asian populations exhibiting different alliance rules and rates of inbreeding, but with similar effective population sizes. The results show that populations with higher rates of inbred matings do not purge deleterious variants more efficiently. Purging therefore has a low efficiency in human populations, and different mating practices lead to a similar mutational load.

Keywords: deleterious variants; genomics; inbreeding; kinship; mate choice; mutational load; purifying selection.

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Figures

Graphical abstract
Graphical abstract
Fig. 1.
Fig. 1.
Genetic inbreeding profiles. Inbreeding coefficient, total HBD length and inferred parental mating type for each individual from the four populations studied: TUR and TJE from Central Asia, CTA and LPO from Southeast Asia. Parental mating types: 1C, first cousin; 2C, second cousin; 2 × 1C, double 1C; AV, avuncular; OUT, outbred. Each column corresponds to 1 individual.
Fig. 2.
Fig. 2.
Deleterious variant density in autozygous tracts (Class C ROH) relative to non-autozygous tracts. Variant density is reported as a percentage (%). Variants were stratified in several CADD classes reflecting the severity of the deleterious effect: neutral (below 10), moderate (10 to 15), large (15 to 20), and extreme (from above 20 to above 30 to assess the sensitivity of the statistics to this threshold). Populations: TUR and TJE from Central Asia, CTA and LPO from Southeast Asia.
Fig. 3.
Fig. 3.
Between-population ratios of the mean per-individual number of derived variants. Variants were stratified in several CADD classes reflecting the severity of the deleterious effect: neutral (below 10), moderate (10 to 15), large (15 to 20), and extreme (from above 20 to above 30 to assess the sensitivity of the statistics to this threshold). Errors bars represent the 95% confidence intervals obtained from 1,000 block-bootstrap resampling. Populations: TUR and TJE from Central Asia, CTA and LPO from Southeast Asia.
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