Abstract

The major histocompatibility complex (MHC) is the most important region in the vertebrate genome with respect to infection and autoimmunity, and is crucial in adaptive and innate immunity. Decades of biomedical research have revealed many MHC genes that are duplicated, polymorphic and associated with more diseases than any other region of the human genome. The recent completion of several large-scale studies offers the opportunity to assimilate the latest data into an integrated gene map of the extended human MHC. Here, we present this map and review its content in relation to paralogy, polymorphism, immune function and disease.

The gene map of the xMHC is also available as a poster, which accompanies this issue and is available at http://www.nature.com/nrg/journal/v5/n12/poster/MHCmap.

Author affiliations

1. Wellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
2. HUGO Gene Nomenclature Committee, Department of Biology, University College London, London NW1 2HE, UK.
3. HUGO Gene Nomenclature Committee, The Johns Hopkins School of Medicine, Institute of Genetic Medicine, The Johns Hopkins University, Baltimore, Maryland 21205, USA.
4. University of Cambridge, Department of Pathology, Immunology Division, Tennis Court Road, Cambridge CB2 1QP, UK.
5. Institut für Immungenetik, Charité-Universitätsmedizin Berlin, Campus Virchow-Klinikum, Humboldt-Universität zu Berlin, 14050 Berlin, Germany.

Correspondence to: Stephan Beck¹ Email: beck@sanger.ac.uk

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