文章基本信息

标题：The ABO blood group is a trans-species polymorphism in primates
本地全文：下载
作者：Laure Ségurel ; Emma E. Thompson ; Timothée Flutre 等
期刊名称：Proceedings of the National Academy of Sciences
印刷版ISSN：0027-8424
电子版ISSN：1091-6490
出版年度：2012
卷号：109
期号：45
页码：18493-18498
DOI：10.1073/pnas.1210603109
语种：English
出版社：The National Academy of Sciences of the United States of America
摘要：The ABO histo-blood group, the critical determinant of transfusion incompatibility, was the first genetic polymorphism discovered in humans. Remarkably, ABO antigens are also polymorphic in many other primates, with the same two amino acid changes responsible for A and B specificity in all species sequenced to date. Whether this recurrence of A and B antigens is the result of an ancient polymorphism maintained across species or due to numerous, more recent instances of convergent evolution has been debated for decades, with a current consensus in support of convergent evolution. We show instead that genetic variation data in humans and gibbons as well as in Old World monkeys are inconsistent with a model of convergent evolution and support the hypothesis of an ancient, multiallelic polymorphism of which some alleles are shared by descent among species. These results demonstrate that the A and B blood groups result from a trans-species polymorphism among distantly related species and has remained under balancing selection for tens of millions of years--to date, the only such example in hominoids and Old World monkeys outside of the major histocompatibility complex.
关键词：natural selection ; balanced polymorphism ; population genetics