Complete sequence and gene map of a human major histocompatibility complex
Complete sequence and gene map of a human major histocompatibility complex
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DOI：
10.1038/44853
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发表时间：
1999-10-28
期刊：
影响因子：
64.8
通讯作者：
Yamazaki, M
中科院分区：
文献类型：
--
作者：
Beck, S;Geraghty, D;Yamazaki, M
在这里，我们报告了人类主要组织相容性复合体（MHC）的第一个完整序列和基因图谱，MHC是6号染色体上的一个区域，对免疫系统至关重要（参考文献1）。当这个区域在50多年前被发现时，人们认为它指定了组织相容性基因，但直到最近20年，它们的性质才被解决。虽然224个已确定的基因位点（128个预计表达）中的许多位点仍具有未知功能，但我们估计约40%的表达基因具有免疫系统功能。超过50%的MHC已经在不同的单倍型中进行了两次测序，从而深入了解了该区域的非凡多态性和进化。几个基因，特别是MHC II类和III类区域的基因，可以通过序列相似性和同一性追溯到7亿多年前，远远早于适应性免疫系统的出现大约4亿年前。预计该序列对许多常见疾病基因座的鉴定具有不可估量的价值。在过去，由于高基因密度和连锁不平衡的复杂性，这些基因座的寻找一直受到阻碍。
Here we report the first complete sequence and gene map of a human major histocompatibility complex (MHC), a region on chromosome 6 which is essential to the immune system (reviewed in ref. 1). When it was discovered over 50 years ago the region was thought to specify histocompatibility genes, but their nature has been resolved only in the last two decades. Although many of the 224 identified gene loci (128 predicted to be expressed) are still of unknown function, we estimate that about 40% of the expressed genes have immune system function. Over 50% of the MHC has been sequenced twice, in different haplotypes, giving insight into the extraordinary polymorphism and evolution of this region. Several genes, particularly of the MHC class II and III regions, can be traced by sequence similarity and synteny to over 700 million years ago, dearly predating the emergence of the adaptive immune system some 400 million years ago. The sequence is expected to be invaluable for the identification of many common disease loci. In the past, the search for these loci has been hampered by the complexity of high gene density and linkage disequilibrium.