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Gene map of the extended human major histocompatibility complex
Roger Horton, Laurens Wilming, Vikki Rand, Ruth C. Lovering, Elspeth A. Bruford, Varsha K. Khodiyar, Michael J. Lush, Sue Povey, C. Conover Talbot Jr., Mathew W. Wright, Hester M. Wain, John Trowsdale, Andreas Ziegler and Stephan Beck

The extended major histocompatibility complex (xMHC) on chromosome 6 is essential for adaptive and innate immunity. In addition to their vital role in transplant medicine, certain combinations (haplotypes) of xMHC loci are known to confer protection from, or susceptibility to, many diseases including most, if not all, autoimmune, inflammatory and infectious diseases. Paralleled only by war and famine, these diseases rank as the leading cause of human mortality and disability worldwide. History has shown that knowledge of detailed and accurate genetic maps enhances our ability to diagnose, understand and treat disease at the molecular level.

The genetic map presented here aims to serve as the definitive protein-coding gene map of the human xMHC. It comprises 421 loci, of which 252 are classified as expressed genes, 139 as pseudogenes and 30 as transcripts (based on EST evidence, but without open reading frames). This represents an increase of 345 annotated loci since the first MHC poster in 1991 (REF. 1) and juxtaposes the classical MHC with several gene clusters, including some of the largest in the human genome. The accompanying article² reviews the current state of knowledge relating to these loci in the context of MHC biology and disease.

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1. Trowsdale, J., Ragoussis, J. & Campbell, R. D. Map of the human MHC. Immunol. Today 12, 443–446 (1991).
2. Horton, R. et al. Gene map of the extended human major histocompatibility complex. Nature Rev. Genet. 5, 889–899 (2004). | Article