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β 3 ‐Adrenergic receptor gene polymorphisms: comparison of human with chimpanzee and Rhesus macaque
Author(s) -
Michel Martin Christian,
Teitsma Christine A,
Vrydag Wim,
Bontrop Ronald,
Rosette Jean JMCH,
Baas Frank
Publication year - 2008
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.22.1_supplement.1134.3
Subject(s) - single nucleotide polymorphism , linkage disequilibrium , biology , genetics , snp , coding region , rhesus macaque , gene , intron , genetic association , genotype
The Trp64Arg single nucleotide polymorphism (SNP) of the human β 3 ‐adrenergic receptor is potentially associated with several disease states including obesity and type 2 diabetes. However, in vitro data with site‐directed mutagenesis have not consistently shown this SNP to yield an altered function. This raises the possibility that the SNP may be an indicator in linkage disequilibrium with functionally more relevant SNPs. To explore this and gain evolutionary insight, we have sequenced the β 3 ‐adrenergic receptor gene from 91 humans, 12 chimpanzees and 12 Rhesus macaques. Four additional SNPs (G1219T, A2135G, G2502C, A3558T) and a tandem repeat polymorphism ΔTG3273/4) were detected in the intron and 3′‐UTR of the human gene. Their consistent association indicates the presence of a haploblock. Within the limited monkey and ape populations no polymorphisms were detected, but for the one coding and two 3′‐UTR human SNPs the human wild‐type differed from the monkey and ape wild‐type. We conclude that the intron polymorphisms of the β 3 ‐adrenergic receptor gene have developed evolutionarily later than the coding and 3′‐UTR SNPs. Source of funding: none