Kulski Jerzy K, Suzuki Shingo, Shiina Takashi
Department of Molecular Life Science, Tokai University School of Medicine, Isehara, Kanagawa, Japan.
Hum Genome Var. 2022 Dec 21;9(1):49. doi: 10.1038/s41439-022-00226-5.
The human Major Histocompatibility Complex (MHC) or Human Leukocyte Antigen (HLA) super-locus is a highly polymorphic genomic region that encodes more than 140 coding genes including the transplantation and immune regulatory molecules. It receives special attention for genetic investigation because of its important role in the regulation of innate and adaptive immune responses and its strong association with numerous infectious and/or autoimmune diseases. In recent years, MHC genotyping and haplotyping using Sanger sequencing and next-generation sequencing (NGS) methods have produced many hundreds of genomic sequences of the HLA super-locus for comparative studies of the genetic architecture and diversity between the same and different haplotypes. In this special issue on 'The Current Landscape of HLA Genomics and Genetics', we provide a short review of some of the recent analytical developments used to investigate the SNP polymorphisms, structural variants (indels), transcription and haplotypes of the HLA super-locus. This review highlights the importance of using reference cell-lines, population studies, and NGS methods to improve and update our understanding of the mechanisms, architectural structures and combinations of human MHC genomic alleles (SNPs and indels) that better define and characterise haplotypes and their association with various phenotypes and diseases.
人类主要组织相容性复合体（MHC）或人类白细胞抗原（HLA）超级基因座是一个高度多态的基因组区域，编码140多个编码基因，包括移植和免疫调节分子。由于其在先天性和适应性免疫反应调节中的重要作用以及与众多感染性和/或自身免疫性疾病的强关联，它在基因研究中受到特别关注。近年来，使用桑格测序和新一代测序（NGS）方法进行的MHC基因分型和单倍型分型已经产生了数百个HLA超级基因座的基因组序列，用于比较研究相同和不同单倍型之间的遗传结构和多样性。在本期关于“HLA基因组学与遗传学的现状”的特刊中，我们简要回顾了一些用于研究HLA超级基因座的SNP多态性、结构变异（插入缺失）、转录和单倍型的最新分析进展。这篇综述强调了使用参考细胞系、群体研究和NGS方法来改进和更新我们对人类MHC基因组等位基因（SNP和插入缺失）的机制、结构和组合的理解的重要性，这些等位基因能够更好地定义和表征单倍型及其与各种表型和疾病的关联。
