Limited Evidence for Adaptive Evolution and Functional Effect of Allelic Variation at rs702424 in the Promoter of the TAS2R16 Bitter Taste Receptor Gene in Africa

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• Alternative Title:
  J Hum Genet
• Personal Author:
  Campbell, Michael C. ; Ranciaro, Alessia ; Zinshteyn, Daniel ; Rawlings-Goss, Renata ; Hirbo, Jibril ; Thompson, Simon ; Woldemeskel, Dawit ; Froment, Alain ; Omar, Sabah A. ; Bodo, Jean-Marie ; Nyambo, Thomas ; Belay, Gurja ; Drayna, Dennis ; Breslin, Paul A.S. ; Tishkoff, Sarah A.
• Description:
  Bitter taste perception, mediated by receptors encoded by the TAS2R loci, has important roles in human health and nutrition. Prior studies have demonstrated that nonsynonymous variation at site 516 in the coding exon of TAS2R16, a bitter taste receptor gene on chromosome 7, has been subject to positive selection and is strongly correlated with differences in sensitivity to salicin, a bitter anti-inflammatory compound, in human populations. However, a recent study suggested that the derived G-allele at rs702424 in the TAS2R16 promoter has also been the target of recent selection and may have an additional effect on the levels of salicin bitter taste perception. Here, we examined alleles at rs702424 for signatures of selection using Extended Haplotype Homozygosity (EHH) and FST statistics in diverse populations from West Central, Central and East Africa. We also performed a genotype-phenotype analysis of salicin sensitivity in a subset of 135 individuals from East Africa. Based on our data, we did not find evidence for positive selection at rs702424 in African populations, suggesting that nucleotide position 516 is likely the site under selection at TAS2R16. Moreover, we did not detect a significant association between rs702424 alleles and salicin bitter taste recognition, implying that this site does not contribute to salicin phenotypic variance. Overall, this study of African diversity provides further information regarding the genetic architecture and evolutionary history of a biologically-relevant trait in humans.
• Keywords:
  Africa, Eastern African Genetic Diversity Alleles Anti-Inflammatory Agents Benzyl Alcohols Evolution, Molecular Genetic Association Studies Glucosides Humans Polymorphism, Single Nucleotide Positive Selection Promoter Regions, Genetic Receptors, G-Protein-Coupled Salicin Bitter Taste Perception Taste Perception

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• Source:
  J Hum Genet. 59(6):349-352
• Pubmed ID:
  24785689
• Pubmed Central ID:
  PMC4075171
• Document Type:
  Journal Article
• Funding:
  R01GM076637/GM/NIGMS NIH HHSUnited States/ ; R01 DC002995/DC/NIDCD NIH HHSUnited States/ ; R01 DC02995/DC/NIDCD NIH HHSUnited States/ ; R01 GM076637/GM/NIGMS NIH HHSUnited States/ ; 5DP1ES022577-05/DP/NCCDPHP CDC HHSUnited States/ ; K12 GM081259/GM/NIGMS NIH HHSUnited States/ ; DP1 ES022577/ES/NIEHS NIH HHSUnited States/
• Volume:
  59
• Issue:
  6
• Collection(s):
  CDC Public Access
• Main Document Checksum:
  urn:sha256:48b50cd851715e7ddc8c49d0052ac4d43a92ca60b2c4e442ec68905199608e4e
• Download URL:
  https://stacks.cdc.gov/view/cdc/27886/cdc_27886_DS1.pdf
• File Type:
  [PDF - 410.56 KB ]