title: Allelic and interlocus comparison of the PERB11 multigene family in the MHC.
abstract: The major histocompatibility complex (MHC) contains at least a hundred genes over 4 megabases of DNA. Within the MHC there are several new multigene families which have been recently described. PERB11 is a multigene family which occurs over the class I and central region of the MHC. Two members of the family have been shown to be functional and share domains with members of the supergene family including HLA class I, FcRn, and Zn-alpha2-glycoprotein molecules. The two functional members are contained within an area of the MHC which has been associated with increased susceptibility to autoimmune diseases such as insulin-dependent diabetes mellitus and also rapid progression to AIDS following HIV-1 infection. Intralocus and interlocus differences between PERB11.1 and PERB11.2 include: (1) several nucleotide substitutions leading to amino acid changes; (2) presence and absence of potential glycosylation sites; (3) insertions and deletions leading to a frame shift resulting in diversity at the amino acid level and an early termination signal. There are ten different alleles of PERB11.1 including one allele which contains a frame shift in the transmembrane region causing a putative truncated molecule lacking the cytoplasmic tail. The significance of this polymorphism in disease associations is under investigation. The most divergent domain is the transmembrane region when PERB11.1 and PERB11.2 are compared. The results suggest that these two molecules may have different functions.
authors.affiliation: Centre for Molecular Immunology and Instrumentation, The University of Western Australia GPO BOX F298, Perth, Western Australia 6001.
authors.forename: S
authors.initials: S
authors.lastname: Gaudieri
authors.forename: C
authors.initials: C
authors.lastname: Leelayuwat
authors.forename: D C
authors.initials: DC
authors.lastname: Townend
authors.forename: J
authors.initials: J
authors.lastname: Mullberg
authors.forename: D
authors.initials: D
authors.lastname: Cosman
authors.forename: R L
authors.initials: RL
authors.lastname: Dawkins
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D004247:DNA; D014644:Genetic Variation; D015395:Histocompatibility Antigens Class I; D006801:Humans; D008285:Major Histocompatibility Complex; D008565:Membrane Proteins / Q000235:genetics; D008969:Molecular Sequence Data; D005810:Multigene Family; D011110:Polymorphism, Genetic; D011506:Proteins / Q000235:genetics*; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; D014407:Tumor Cells, Cultured
chemical_list: C089801:HCG9 non-protein coding RNA, human; D015395:Histocompatibility Antigens Class I; C099187:MHC class I-related chain A; C098080:MICB antigen; D008565:Membrane Proteins; D011506:Proteins; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; D004247:DNA