主要组织相容性复合体II类基因座的核苷酸替代：超显性选择的证据。
Nucleotide substitution at major histocompatibility complex class II loci: evidence for overdominant selection.
作者信息
Hughes A L, Nei M
机构信息
Center for Demographic and Population Genetics, University of Texas Health Science Center, Houston 77225.
出版信息
Proc Natl Acad Sci U S A. 1989 Feb;86(3):958-62. doi: 10.1073/pnas.86.3.958.
Abstract
To study the mechanism of maintenance of polymorphism at major histocompatibility complex (MHC) loci, synonymous and nonsynonymous (amino acid-altering) nucleotide substitutions in the putative antigen-recognition site (included in the first domain of the MHC molecule) and other regions of human and mouse class II genes were examined. In the putative antigen-recognition site, the rate of nonsynonymous substitution was found to exceed that of synonymous substitution, whereas in the second domain the former was significantly lower than the latter. In light of a previous theoretical study and parallel findings in class I MHC loci, we conclude that the unusually high degree of polymorphism at class II MHC loci is caused mainly by overdominant selection (heterozygote advantage) operating in the antigen-recognition site.
摘要
为研究主要组织相容性复合体（MHC）位点多态性维持的机制，对人及小鼠Ⅱ类基因的推定抗原识别位点（包含在MHC分子的第一结构域中）和其他区域的同义及非同义（氨基酸改变）核苷酸替换进行了检测。在推定抗原识别位点，发现非同义替换率超过同义替换率，而在第二结构域中，前者显著低于后者。根据先前的理论研究以及Ⅰ类MHC位点的类似发现，我们得出结论，Ⅱ类MHC位点异常高的多态性主要是由在抗原识别位点起作用的超显性选择（杂合子优势）导致的。
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