Locus-specific conservation of the HLA class I introns by intra-locus homogenization
Locus-specific conservation of the HLA class I introns by intra-locus homogenization
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DOI：
10.1007/s002510050323
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发表时间：
1997-12-01
期刊：
影响因子：
3.2
通讯作者：
Yang, SY
中科院分区：
文献类型：
--
作者：
Cereb, N;Hughes, AL;Yang, SY
主要组织相容性复合体（MHC）基因的蛋白质编码序列具有非常高的多态性，显然是通过平衡选择维持的，这有利于MHC糖蛋白肽结合结构域的多样性。在这里，我们报告了人类MHC I类位点HLA-A， -B和-C基因的多态性外显子侧的内含子相对保守，并且由于重组和随后的遗传漂变而明显具有位点特异性，导致位点在进化时间内均质化。因此，HLA I类基因是通过不同的进化力量形成的，维持了外显子的多态性，导致了内含子的保守性。这项研究提供了一个高度多态性基因家族的内含子的第一个广泛的分析。
The protein-coding sequences of the major histocompatibility complex (MHC) genes are characterized by extraordinarily high polymorphism, apparently maintained by balancing selection, which favors diversity in the peptide-binding domains of the MHC glycoproteins. Here we report that the introns flanking the polymorphic exons of the human MHC class I loci HLA-A, -B, and -C genes have been relatively conserved and have become locus-specific apparently as a result of recombination and subsequent genetic drift, leading to homogenization within loci over evolutionary time. Thus, HLA class I genes have been shaped by contrasting evolutionary forces maintaining polymorphism in the exons and leading to conservation in the introns. This study provides the first extensive analysis of the introns of a highly polymorphic gene family.