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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

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Published on: June 23, 2012

Parallel selection on TRPV6 in human populations.

David A Hughes1, Kun Tang, Rainer Strotmann

  • 1Max Plank Institute for Evolutionary Anthropology, Leipzig, Germany. hughes@eva.mpg.de

Plos One
|February 28, 2008
PubMed
Summary
This summary is machine-generated.

Human populations show parallel selection on the TRPV6 gene, acting on existing genetic variations. This study reveals widespread parallel soft sweeps, a novel finding in human evolution.

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Area of Science:

  • Human evolutionary genetics
  • Population genetics
  • Molecular evolution

Background:

  • Directional selection can shape human genetic variation.
  • The TRPV6 gene is a candidate for local selection in European populations.

Purpose of the Study:

  • To investigate signatures of selection at the TRPV6 locus across diverse human populations.
  • To identify functional consequences of genetic variations within the selected TRPV6 haplotype.

Main Methods:

  • Utilized a modified extended haplotype homozygosity (EHH) test comparing allele frequencies across populations.
  • Analyzed published and new sequence data from European, Asian, African-American, and other populations.
  • Performed in vitro electrophysiology experiments on ancestral and derived TRPV6 protein variants.

Main Results:

  • A consistent signature of selection on the TRPV6 locus was found in all non-African populations.
  • Selective footprints differed significantly between non-African populations and were younger than the non-African ancestral population.
  • No significant differences in biophysical channel function were observed, though Ca(2+) dependent inactivation showed potential functional relevance.

Conclusions:

  • Demonstrates the first widespread parallel selection event acting on standing genetic variation in humans.
  • Highlights the utility of inter-population EHH statistics for detecting selection.
  • The precise selective pressure on TRPV6 remains undetermined.