The HLA genomic loci map: expression, interaction, diversity and disease

T. Shiina, K. Hosomichi, H. Inoko, Jerzy Kulski

    Research output: Contribution to journalArticle

    343 Citations (Scopus)

    Abstract

    The human leukocyte antigen (HLA) super-locus is a genomic region in the chromosomal position 6p21 that encodes the sixclassical transplantation HLA genes and at least 132 protein coding genes that have important roles in the regulation of theimmune system as well as some other fundamental molecular and cellular processes. This small segment of the human genomehas been associated with more than 100 different diseases, including common diseases, such as diabetes, rheumatoid arthritis,psoriasis, asthma and various other autoimmune disorders. The first complete and continuous HLA 3.6Mb genomic sequencewas reported in 1999 with the annotation of 224 gene loci, including coding and non-coding genes that were reviewedextensively in 2004. In this review, we present (1) an updated list of all the HLA gene symbols, gene names, expression status,Online Mendelian Inheritance in Man (OMIM) numbers, including new genes, and latest changes to gene names and symbols,(2) a regional analysis of the extended class I, class I, class III, class II and extended class II subregions, (3) a summary ofthe interspersed repeats (retrotransposons and transposons), (4) examples of the sequence diversity between different HLAhaplotypes, (5) intra- and extra-HLA gene interactions and (6) some of the HLA gene expression profiles and HLA genesassociated with autoimmune and infectious diseases. Overall, the degrees and types of HLA super-locus coordinated geneexpression profiles and gene variations have yet to be fully elucidated, integrated and defined for the processes involved withnormal cellular and tissue physiology, inflammatory and immune responses, and autoimmune and infectious diseases.Journal of Human Genetics (2009) 54, 15–39; doi:10.1038/jhg.2008.5; published online 9 January 2009
    Original languageEnglish
    Pages (from-to)15-39
    JournalJournal of Human Genetics
    Volume54
    Issue number1
    DOIs
    Publication statusPublished - 2009

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