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三个HLA - DRβ链基因的连锁图谱：近期发生基因复制事件的证据。

Linkage map of three HLA-DR beta-chain genes: evidence for a recent duplication event.

作者信息

Rollini P, Mach B, Gorski J

出版信息

Proc Natl Acad Sci U S A. 1985 Nov;82(21):7197-201. doi: 10.1073/pnas.82.21.7197.

DOI:10.1073/pnas.82.21.7197
PMID:3933002
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC390816/
Abstract

The predominant class II, or Ia, antigen of the human major histocompatibility complex is HLA-DR. It consists of an alpha and a beta chain, the latter being responsible for the remarkable polymorphism of these Ia antigens. Studies with cloned genes had shown the existence of more than one DR beta-chain locus. We have isolated about 100 kilobases of the HLA-DR beta-chain gene region from a cosmid library generated from a consanguineous homozygous B-cell line of the DR3 haplotype. Three HLA-DR beta-chain genes have been characterized. They are arranged in a head-to-tail orientation. One of the genes lacks the region encoding the first domain of the DR beta chain. The two other genes are transcribed, as shown by RNA blot hybridization analysis. A striking restriction site homology has been found within the DR beta-chain gene cluster, suggesting a recent duplication event involving at least 25 kilobases of DNA. Moreover, the molecular map of DR beta chain genes cloned from B-cell lines of two other HLA-DR haplotypes shows extensive homology between alleles of a given DR beta-chain locus.

摘要

人类主要组织相容性复合体的主要Ⅱ类或Ia类抗原是HLA - DR。它由一条α链和一条β链组成，后者导致了这些Ia类抗原显著的多态性。对克隆基因的研究表明存在不止一个DRβ链基因座。我们从一个由DR3单倍型的近亲纯合B细胞系构建的黏粒文库中分离出约100千碱基的HLA - DRβ链基因区域。已鉴定出三个HLA - DRβ链基因。它们以头对头的方向排列。其中一个基因缺少编码DRβ链第一个结构域的区域。如RNA印迹杂交分析所示，另外两个基因被转录。在DRβ链基因簇内发现了显著的限制性酶切位点同源性，这表明最近发生了涉及至少25千碱基DNA的重复事件。此外，从其他两种HLA - DR单倍型的B细胞系克隆的DRβ链基因的分子图谱显示，给定DRβ链基因座的等位基因之间存在广泛的同源性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2d2/390816/6e514494b867/pnas00361-0052-e.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2d2/390816/c39d9e933a70/pnas00361-0051-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2d2/390816/2f15a003e723/pnas00361-0052-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2d2/390816/88405f909ad9/pnas00361-0052-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2d2/390816/32b568aeb893/pnas00361-0052-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2d2/390816/987d2e0039eb/pnas00361-0052-d.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2d2/390816/6e514494b867/pnas00361-0052-e.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2d2/390816/c39d9e933a70/pnas00361-0051-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2d2/390816/2f15a003e723/pnas00361-0052-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2d2/390816/88405f909ad9/pnas00361-0052-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2d2/390816/32b568aeb893/pnas00361-0052-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2d2/390816/987d2e0039eb/pnas00361-0052-d.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2d2/390816/6e514494b867/pnas00361-0052-e.jpg

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