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Archaic Introgression Shaped Human Circadian Traits.

Keila Velazquez-Arcelay1, Laura L Colbran2, Evonne McArthur3

  • 1Department of Biological Sciences, Vanderbilt University, Nashville, Tennessee, USA.

Genome Biology and Evolution
|December 14, 2023
PubMed
Summary
This summary is machine-generated.

Ancient human DNA from Neanderthals and Denisovans influenced modern human circadian rhythms. Introgressed variants impact chronotype, potentially aiding adaptation to new environments and increasing morningness.

Keywords:
Neanderthalsadaptive evolutionadaptive introgressionchronotypecircadian biologygene expression

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Area of Science:

  • Human evolution
  • Genetics
  • Chronobiology

Background:

  • Modern humans interbred with archaic hominins (Neanderthals, Denisovans) after migrating from Africa.
  • Archaic DNA introgression may have facilitated adaptation to Eurasian environments.
  • The role of archaic introgression in human circadian biology and chronotypes is largely unknown.

Purpose of the Study:

  • To investigate differences in circadian gene regulation between archaic and modern humans.
  • To determine if archaic introgression adaptively contributed to human chronotypes.

Main Methods:

  • Genome-wide analysis of archaic hominin and modern human genomes.
  • Identification of variants in circadian genes affecting splicing and regulation.
  • Analysis of introgressed variants' association with gene expression and chronotype.

Main Results:

  • Identified 28 circadian genes with potential splicing alterations and 16 with divergent regulation in archaic hominins.
  • Found introgressed variants enriched in circadian gene expression quantitative trait loci.
  • Observed significant associations between introgressed alleles and chronotype, particularly increased morningness.

Conclusions:

  • Archaic hominin introgression significantly influenced human circadian gene regulation and chronotype.
  • Introgressed variants likely contributed to adaptive changes in human chronotypes, possibly related to high-latitude adaptation.
  • Specific circadian loci show evidence of adaptive introgression and latitudinal clines in allele frequency.