VH4-21, a human VH gene segment overrepresented in the autoimmune repertoire.
VH4-21, a human VH gene segment overrepresented in the autoimmune repertoire.
复制标题
DOI：
10.1002/art.1780350103
复制
发表时间：
1992
影响因子：
--
通讯作者：
V. Pascual;J. Capra
中科院分区：
文献类型：
--
作者：
V. Pascual;J. Capra
在人类中，免疫球蛋白重链位点位于染色体带 14q32。 33（1、2）。三个不同的元件，V、D和JH，由基因片段编码，在种系配置中被数千个碱基对分开，通过重组机制将其聚集在一起以产生功能性可变区。许多不同的 VH、D 和 JH 基因片段的存在为 B 细胞库多样化提供了第一个底物。通过这 3 个元件的组合关联以及重排过程中 V、D 和 D-JH 连接处新氨基酸的生成，多样性增强了几个数量级。库的进一步扩展是通过体细胞突变机制实现的，体细胞突变通过作用于重新排列的基因片段，导致几乎无限的 B 细胞特异性谱（综述，参见参考文献 3）。目前对人类 V1 复合体的了解表明，可用的功能性 VH 基因的库是多种多样的。限制性片段长度多态性分析表明，种系V基因片段总数为100-200，占2040%
In humans, the immunoglobulin heavy chain locus is located in chromosome band 14q32. 33 (1, 2). Three different elements, V,, D, and JH, encoded by gene segments which in germline configuration are separated by thousands of basepairs, are brought together by a recombination machinery in order to generate a functional variable region. The existence of many different VH, D, and JH gene segments provides the first substrate for diversifying the repertoire of B cells. Diversity is enhanced by several orders of magnitude by the combinatorial association of these 3 elements and the generation of new amino acids at the V, D and D-JH junctions during the process of rearrangement. Further expansion of the repertoire is accomplished by the mechanism of somatic mutation, which, by acting upon the rearranged gene segments, leads to a practically unlimited spectrum of B cell specificities (for review, see ref. 3). Current knowledge about the human V, complex indicates that the repertoire of available functional VH genes is diverse. Restriction fragment length polymorphism analyses suggest that the total number of germline V, gene segments is-100-200, 2040% of