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Identifying adaptive alleles in the human genome: from selection mapping to functional validation.

Elizabeth A Werren1,2, Obed Garcia2, Abigail W Bigham3

  • 1Department of Human Genetics, The University of Michigan, Ann Arbor, MI, USA.

Human Genetics
|July 31, 2020
PubMed
Summary

Human evolution shaped our diversity through natural selection. Studying genetic adaptations in diverse populations reveals insights into human biology and disease, but genomic databases remain underrepresented.

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Area of Science:

  • Human evolutionary genetics
  • Population genetics
  • Genomics

Background:

  • Human phenotypic diversity arises from evolutionary forces like genetic drift, gene flow, and natural selection.
  • Local biological adaptations to environmental pressures are not fully understood.
  • Selection mapping, using population genetics models on genomic data, identifies genomic signatures of natural selection.

Purpose of the Study:

  • To characterize human genetic variation underlying local adaptations.
  • To identify candidate functional alleles associated with adaptive phenotypes.
  • To understand how selection signals translate into biological changes and phenotypic variation.

Main Methods:

  • Population genetics modeling of large-scale genomic data.
  • Selection mapping to identify signatures of natural selection.
  • Phenotypic association, fine mapping, and functional experiments to validate candidate adaptive alleles.

Main Results:

  • Selection mapping successfully infers signals of natural selection in the genome.
  • These signals help identify candidate functional alleles linked to adaptive phenotypes.
  • Functional studies are beginning to elucidate the biological mechanisms of adaptation.

Conclusions:

  • Discovery and functional annotation of adaptive alleles inform evolutionary hypotheses and may have clinical significance.
  • Underrepresentation of diverse populations in genomic databases hinders the study of human variation.
  • Identifying and validating adaptive alleles in global populations is crucial for understanding human biology and disease.