通过对14号染色体q端粒区域的分析完成的人类免疫球蛋白VH基因座图谱。

A map of the human immunoglobulin VH locus completed by analysis of the telomeric region of chromosome 14q.

作者信息

Cook G P, Tomlinson I M, Walter G, Riethman H, Carter N P, Buluwela L, Winter G, Rabbitts T H

机构信息

MRC Laboratory of Molecular Biology, MRC Centre for Protein Engineering, Cambridge, UK.

出版信息

Nat Genet. 1994 Jun;7(2):162-8. doi: 10.1038/ng0694-162.

DOI:10.1038/ng0694-162

PMID:7920635

Abstract

Analysis of the telomeric region of chromosome 14q has enabled us to complete a map of the immunoglobulin VH locus which accounts for almost all VH segments known to rearrange in B-lymphocytes. The human germline VH repertoire consists of approximately 50 functional VH segments--the exact number depending on the haplotype--spanning 1,100 kilobases upstream of the JH segments. A yeast artificial chromosome used to map these segments was isolated by its ability to provide telomere activity in yeast, suggesting that the VH locus may be located within a few kilobases of the 14q telomere. The limited structural diversity encoded by the functional VH segments demonstrates the importance of combinatorial diversity produced by VDJ joining and the association of heavy and light chains in producing the human antibody repertoire.

摘要

对14号染色体q臂端粒区域的分析使我们能够完成免疫球蛋白VH基因座图谱，该基因座几乎涵盖了已知在B淋巴细胞中发生重排的所有VH区段。人类种系VH基因库由大约50个功能性VH区段组成——确切数量取决于单倍型——分布在JH区段上游1100千碱基的范围内。用于绘制这些区段图谱的酵母人工染色体是通过其在酵母中提供端粒活性的能力分离出来的，这表明VH基因座可能位于14q端粒的几千碱基范围内。功能性VH区段编码的有限结构多样性证明了VDJ连接以及重链和轻链的缔合在产生人类抗体库中所产生的组合多样性的重要性。