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解析多个基因组组装中的免疫球蛋白基因座和富集的 IMGT 资源。

Deciphering immunoglobulin loci in multiple genome assemblies and enrichment of IMGT resources.

机构信息

The International ImMunoGeneTics® Information System (IMGT®), Institute of Human Genetics (IGH), National Center for Scientific Research (CNRS), University of Montpellier (UM), Montpellier, France.

Institut Universitaire de France (IUF), Paris, France.

出版信息

Front Immunol. 2024 Oct 10;15:1475003. doi: 10.3389/fimmu.2024.1475003. eCollection 2024.

Abstract

Through the analysis of immunoglobulin genes at the IGH, IGK, and IGL loci from four genome assemblies, IMGT provides an in-depth overview of these loci and their individual variations in a species closely related to humans. The similarity between gorilla and human IG gene organization allowed the assignment of gorilla IG gene names based on their human counterparts. This study revealed significant findings, including variability in the IGH locus, the presence of known and new copy number variations (CNVs), and the accurate estimation of IGHG genes. The IGK locus displayed remarkable homogeneity and lacked the gene duplication seen in humans, while the IGL locus showed a previously unconfirmed CNV in the J-C cluster. The curated data from these analyses, available on the IMGT website, enhance our understanding of gorilla immunogenetics and provide valuable insights into primate evolution.

摘要

通过对来自四个基因组组装的IGH、IGK 和 IGL 基因座的免疫球蛋白基因进行分析,IMGT 深入概述了这些基因座及其在与人类密切相关的物种中的个体变异。大猩猩和人类 IG 基因组织的相似性使得可以根据人类对应物来分配大猩猩 IG 基因名称。这项研究揭示了重要的发现,包括IGH 基因座的变异性、已知和新的拷贝数变异(CNV)的存在,以及 IGHG 基因的准确估计。IGK 基因座表现出显著的同源性,缺乏人类中所见的基因重复,而 IGL 基因座在 J-C 簇中显示了以前未确认的 CNV。这些分析的经过整理的数据可在 IMGT 网站上获得,增强了我们对大猩猩免疫遗传学的理解,并为灵长类动物进化提供了有价值的见解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d979/11499206/5767924c9e96/fimmu-15-1475003-g001.jpg

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