title: Genetic organization of the human MHC class III region.
abstract: The human major histocompatibility complex (MHC), or human leukocyte antigen (HLA) region, encompasses over 4 Mb of DNA on the short arm of chromosome 6 and is traditionally divided into the class I, class II and class III regions. The MHC has now been entirely sequenced and ~220 genes have been defined of which ~62 are in the class III region. It is becoming clear that many of the latter encode proteins that are likely to be involved in the immune and inflammatory responses. The MHC is known to contribute to a large number of immune-related disorders including insulin dependent diabetes mellitus, rheumatoid arthritis, common variable immunodeficiency and IgA deficiency and there is growing evidence that genes within the class III region are important in determining susceptibility to many of these complex conditions. Genes in the class III region have also been implicated in a number of non-immune-related diseases such as congenital adrenal hyperplasia and sialidosis. Now that the full gene content of the class III region is known the stage is set for the identification and characterisation of candidate disease genes, which will allow greater understanding of the causes of many MHC-linked diseases and thus aid the development of improved treatments.
authors.affiliation: MRC Immunochemistry Unit, University of Oxford, UK. cmilner@molbiol.ox.ac.uk
authors.forename: C M
authors.initials: CM
authors.lastname: Milner
authors.forename: R D
authors.initials: RD
authors.lastname: Campbell
mesh_terms: D020022:Genetic Predisposition to Disease; D006801:Humans; D007154:Immune System Diseases / Q000235:genetics; D008285:Major Histocompatibility Complex