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用于免疫球蛋白(IG)和T细胞受体(TR)V-(D)-J基因库、多态性及IG突变核苷酸分析的IMGT(®)工具:用于二代测序的IMGT/V-QUEST和IMGT/HighV-QUEST

IMGT(®) tools for the nucleotide analysis of immunoglobulin (IG) and T cell receptor (TR) V-(D)-J repertoires, polymorphisms, and IG mutations: IMGT/V-QUEST and IMGT/HighV-QUEST for NGS.

作者信息

Alamyar Eltaf, Duroux Patrice, Lefranc Marie-Paule, Giudicelli Véronique

机构信息

IMGT®, the International ImMunoGeneTics Information System®, Université Montpellier 2, Laboratoire d'ImmunoGénétique Moléculaire (LIGM), Institut de Génétique Humaine (IGH), UPR CNRS 1142, Montpellier, France.

出版信息

Methods Mol Biol. 2012;882:569-604. doi: 10.1007/978-1-61779-842-9_32.

DOI:10.1007/978-1-61779-842-9_32
PMID:22665256
Abstract

IMGT/V-QUEST is the highly customized and integrated online IMGT(®) tool for the standardized analysis of the immunoglobulin (IG) or antibody and T cell receptor (TR) rearranged nucleotide sequences. The analysis of these antigen receptors represents a crucial challenge for the study of the adaptive immune response in normal and disease-related situations. The expressed IG and TR repertoires represent a potential of 10(12) IG and 10(12) TR per individual. This huge diversity results from mechanisms that occur at the DNA level during the IG and TR molecular synthesis. These mechanisms include the combinatorial rearrangements of the variable (V), diversity (D) and joining (J) genes, the N-diversity (deletion and addition at random of nucleotides during the V-(D)-J rearrangement) and, for IG, somatic hypermutations. IMGT/V-QUEST identifies the V, D, J genes and alleles by alignment with the germline IG and TR gene and allele sequences of the IMGT reference directory. The tool describes the V-REGION mutations and identifies the hot spot positions in the closest germline V gene. IMGT/V-QUEST integrates IMGT/JunctionAnalysis for a detailed analysis of the V-J and V-D-J junctions and IMGT/Automat for a complete annotation of the sequences and also provides IMGT Collier de Perles. IMGT/HighV-QUEST, the high-throughput version of IMGT/V-QUEST, implemented to answer the needs of deep sequencing data analysis from Next Generation Sequencing (NGS), allows the analysis of thousands of IG and TR sequences in a single run. IMGT/V-QUEST and IMGT/HighV-QUEST are available at the IMGT(®) Home page, http://www.imgt.org.

摘要

IMGT/V-QUEST是一款高度定制化且集成的在线IMGT(®)工具,用于对免疫球蛋白(IG)或抗体以及T细胞受体(TR)重排的核苷酸序列进行标准化分析。对这些抗原受体的分析是正常及疾病相关情况下适应性免疫反应研究中的一项关键挑战。每个个体表达的IG和TR库代表着10¹²种IG和10¹²种TR的潜力。这种巨大的多样性源于IG和TR分子合成过程中在DNA水平发生的机制。这些机制包括可变(V)、多样性(D)和连接(J)基因的组合重排、N多样性(V-(D)-J重排过程中核苷酸的随机缺失和添加),以及对于IG的体细胞超突变。IMGT/V-QUEST通过与IMGT参考目录中的种系IG和TR基因及等位基因序列比对来识别V、D、J基因和等位基因。该工具描述V区突变并识别最接近的种系V基因中的热点位置。IMGT/V-QUEST集成了IMGT/JunctionAnalysis用于对V-J和V-D-J连接进行详细分析,以及IMGT/Automat用于对序列进行完整注释,并且还提供IMGT Collier de Perles。IMGT/HighV-QUEST是IMGT/V-QUEST的高通量版本,为满足下一代测序(NGS)深度测序数据分析的需求而实现,允许在一次运行中分析数千条IG和TR序列。IMGT/V-QUEST和IMGT/HighV-QUEST可在IMGT(®)主页http://www.imgt.org上获取。

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