Worldwide genetic variation of the IGHV and TRBV immune receptor gene families in humans
Worldwide genetic variation of the IGHV and TRBV immune receptor gene families in humans
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DOI：
10.26508/lsa.201800221
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发表时间：
2019-04-01
影响因子：
4.4
通讯作者：
Song, Yun S.
中科院分区：
文献类型：
--
作者：
Luo, Shishi;Yu, Jane A.;Song, Yun S.
免疫球蛋白重链可变区（IGHV）和T细胞β可变区（TRBV）基因座是人类基因组中最复杂和可变的区域之一。通过基因复制/缺失和多样化的过程产生，这些基因座在个体之间的拷贝数可能差异很大，并且包含高度相似的基因，这使得它们的分析在技术上具有挑战性。在这里，我们提出了一个全面的研究IGHV和TRBV基因座的功能基因片段，量化他们的拷贝数和单核苷酸变异在全球不同的样本109（IGHV）和286（TRBV）人类超过100个人口。我们发现IGHV和TRBV基因家族表现出完全不同的变异模式。除了提供对IGHV和TRBV基因座的不同进化路径的洞察外，我们的结果对适应性免疫库测序社区也很重要，其中缺乏常见等位基因和拷贝数变异的频率阻碍了现有的分析管道。
The immunoglobulin heavy variable (IGHV) and T cell beta variable (TRBV) loci are among the most complex and variable regions in the human genome. Generated through a process of gene duplication/deletion and diversification, these loci can vary extensively between individuals in copy number and contain genes that are highly similar, making their analysis technically challenging. Here, we present a comprehensive study of the functional gene segments in the IGHV and TRBV loci, quantifying their copy number and single-nucleotide variation in a globally diverse sample of 109 (IGHV) and 286 (TRBV) humans from over a 100 populations. We find that the IGHV and TRBV gene families exhibit starkly different patterns of variation. In addition to providing insight into the different evolutionary paths of the IGHV and TRBV loci, our results are also important to the adaptive immune repertoire sequencing community, where the lack of frequencies of common alleles and copy number variants is hampering existing analytical pipelines.