title: Polymorphism in the promoter region of HLA-DRB genes.
abstract: Polymorphism is a hallmark of the molecules encoded within the MHC of humans and other mammals. Recently, evidence of polymorphism has also been shown to exist in the transcriptional regulatory regions of HLA-DQB genes. In this article, we report that polymorphism exists also in the promoter region of HLA-DRB genes. The sequence of the regulatory region of DRB genes from five homozygous DR B-cell lines, each of a distinct DR haplotype, revealed a number of differences, some of which are in the critical class II boxes that are generally conserved in class II promoters. The major differences occurred in a comparison of DR4 to the other DR haplotypes. These data suggest the existence of another important source of HLA class II polymorphism that may play a role in susceptibility to HLA-associated autoimmune disease.
authors.affiliation: Department of Medicine, Washington University School of Medicine, St. Louis, Missouri 63110.
authors.forename: C
authors.initials: C
authors.lastname: Perfetto
authors.forename: M
authors.initials: M
authors.lastname: Zacheis
authors.forename: D
authors.initials: D
authors.lastname: McDaid
authors.forename: J W
authors.initials: JW
authors.lastname: Meador
authors.forename: B D
authors.initials: BD
authors.lastname: Schwartz
mesh_terms: D001483:Base Sequence; D002460:Cell Line; D004247:DNA / Q000235:genetics; D005802:Genes, MHC Class II; D005809:Genes, Regulator; D006684:HLA-DR Antigens / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D012689:Sequence Homology, Nucleic Acid
chemical_list: D006684:HLA-DR Antigens; D004247:DNA