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Briefings in Functional Genomics Advance Access originally published online on May 25, 2009
Briefings in Functional Genomics 2009 8(5):379-394; doi:10.1093/bfgp/elp010
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© The Author 2009. Published by Oxford University Press. For permissions, please email: journals.permissions@oxfordjournals.org

This article appears in the following Briefings in Functional Genomics and Proteomics issue: Special Issue: Polymorphism, population genetics and natural variation [View the issue table of contents]

Special Issue Papers

The human Major Histocompatibility Complex as a paradigm in genomics research

Claire Vandiedonck and Julian C. Knight

Corresponding authors. Claire Vandiedonck, Wellcome Trust Centre for Human Genetics (WTCHG), University of Oxford, Oxford OX3 7BN, UK. Tel: +44-1865-287531; Fax: +44-1865-287533; E-mail: vandiedo{at}well.ox.ac.uk


Julian Knight, WTCHG, University of Oxford, Oxford OX3 7BN, UK. Tel: +44-1865-287651; Fax +44-1865-287533; E-mail: julian{at}well.ox.ac.uk

Since its discovery more than 50 years ago, the human Major Histocompatibility Complex (MHC) on chromosome 6p21.3 has been at the forefront of human genetic research. Here, we review from a historical perspective the major advances in our understanding of the nature and consequences of genetic variation which have involved the MHC, as well as highlighting likely future directions. As a consequence of its particular genomic structure, its remarkable polymorphism and its early implication in numerous diseases, the MHC has been considered as a model region for genomics, being the first substantial region to be sequenced and establishing fundamental concepts of linkage disequilibrium, haplotypic structure and meiotic recombination. Recently, the MHC became the first genomic region to be entirely re-sequenced for common haplotypes, while studies mapping gene expression phenotypes across the genome have strongly implicated variation in the MHC. This review shows how the MHC continues to provide new insights and remains in the vanguard of contemporary research in human genomics.

Keywords: Major Histocompatibility Complex, Human Leukocyte Antigen, polymorphism, haplotype, linkage disequilibrium, gene expression


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