Worldwide genetic variation of the IGHV and TRBV immune receptor gene families in humans

被引：20

作者：

Luo, Shishi ^{[1
,2
]}

Yu, Jane A. ^{[1
]}

Li, Heng ^{[3
]}

Song, Yun S. ^{[1
,2
,4
]}

机构：

[1] Univ Calif Berkeley, Div Comp Sci, Berkeley, CA 94720 USA

[2] Univ Calif Berkeley, Dept Stat, Berkeley, CA 94720 USA

[3] Harvard Med Sch, Dept Biostat, Boston, MA 02115 USA

[4] Chan Zuckerberg Biohub, San Francisco, CA 94158 USA

来源：

LIFE SCIENCE ALLIANCE | 2019年 / 2卷 / 02期

关键词：

LINKAGE DISEQUILIBRIUM; SEQUENCE VARIATION; HUMAN-POPULATIONS; IMMUNOGLOBULIN; DIVERSITY; REGION; HAPLOTYPE; COMPLEX; POLYMORPHISM; RECOMBINATION;

D O I：

10.26508/lsa.201800221

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.

引用

页数：9

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