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Following the Dynamics of Structural Variants in Experimentally Evolved Populations
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Quantifying the increase in average human heterozygosity due to urbanisation.

Igor Rudan1, Andrew D Carothers, Ozren Polasek

  • 1Department of Public Health Sciences, University of Edinburgh, Edinburgh, UK.

European Journal of Human Genetics : EJHG
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Summary

Human populations are becoming more outbred, increasing genome-wide heterozygosity (h). This study quantified the rise in mean h, finding significant increases linked to urbanization and isolate break-up, potentially impacting health.

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Area of Science:

  • Human Population Genetics
  • Genomics
  • Evolutionary Biology

Background:

  • Human populations are shifting from isolated metapopulations to outbred structures.
  • This transition is predicted to increase genome-wide heterozygosity (h).
  • Increased heterozygosity may have significant implications for human health.

Purpose of the Study:

  • To quantify the increase in mean genome-wide heterozygosity (h) associated with population outbreeding.
  • To investigate the relationship between urbanization, isolate break-up, and changes in heterozygosity.
  • To explore potential health impacts of altered heterozygosity levels.

Main Methods:

  • Sampled 1001 individuals from isolated Dalmatian island villages (Croatia).
  • Selected 166 individuals with specific genetic histories for outbreeding level ranking.
  • Estimated heterozygosity (h) using 1184 STR/indel markers and two computational methods.

Main Results:

  • Mean h increased significantly with predicted outbreeding (0.023 to 0.079).
  • Urbanization correlated with an average increase in h of 0.08–0.10.
  • Findings were consistent across different computational methods.

Conclusions:

  • Population outbreeding significantly increases genome-wide heterozygosity (h).
  • Urbanization and isolate break-up are key drivers of increased heterozygosity in human populations.
  • Magnitude of heterozygosity changes suggests potential widespread health effects via heterosis.