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Copy Number Variation in TAS2R Bitter Taste Receptor Genes: Structure, Origin, and Population Genetics.

Natacha Roudnitzky1, Davide Risso2, Dennis Drayna2

  • 1Department of Molecular Genetics, German Institute of Human Nutrition Potsdam-Rehbruecke, Arthur-Scheunert-Allee 114-116, 14558 Nuthetal, Germany.

Chemical Senses
|June 25, 2016
PubMed
Summary
This summary is machine-generated.

High-frequency deletion alleles in bitter taste receptor genes TAS2R43 and TAS2R45 show copy number variation across global populations. These deletions, likely arising from recent unequal recombination, suggest genetic drift, not natural selection, shaped their diversity.

Keywords:
bitterevolutiongeneticgenomicnatural selectiontaste receptor

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Area of Science:

  • Genetics
  • Human Population Genomics
  • Molecular Evolution

Background:

  • Bitter taste receptor genes (TAS2Rs) exhibit significant genetic diversity, influencing taste perception.
  • Most TAS2R variation involves single-nucleotide polymorphisms, but copy number variation (CNV) also occurs.
  • Two adjacent loci, TAS2R43 and TAS2R45, are known to harbor high-frequency deletion alleles.

Purpose of the Study:

  • To investigate the chromosomal structure and organization of TAS2R43 and TAS2R45 deletion alleles.
  • To determine the evolutionary origin and population genetics of these deletion variants.
  • To understand the forces shaping genetic diversity at these bitter taste receptor loci.

Main Methods:

  • Long-range contig alignments and local sequencing to map the TAS2R43-45 region.
  • Comparative genomics using chimpanzee genome data to infer evolutionary history.
  • Population genetic analyses across 52 worldwide populations (946 subjects) to assess allele frequencies and patterns of variation.

Main Results:

  • Deletion alleles (43Δ and 45Δ) are large (37.8kb and 32.2kb), encompassing coding and flanking regions, creating distinct CNVs.
  • Deletions evolved recently via unequal recombination, as evidenced by comparisons with intact chimpanzee TAS2R homologs.
  • High global frequencies (0.33 for 43Δ, 0.18 for 45Δ) were observed, with copy numbers ranging from 0 to 2.
  • Low recombination rates and high linkage disequilibrium suggest recent, linked origins.
  • Geographic patterns indicate an African origin for the deletions, but analyses found no signatures of natural selection, pointing to genetic drift.

Conclusions:

  • The TAS2R43 and TAS2R45 deletion alleles represent significant CNVs with high frequencies in human populations.
  • These deletions likely arose from recent unequal recombination events and are predominantly shaped by genetic drift rather than selection.
  • Understanding TAS2R variation, including CNVs, is crucial for studying taste perception and human adaptation.