title: The role of gene polymorphism in HLA class I splicing.
abstract: Among the large number of human leucocyte antigen (HLA) alleles, only a few have been identified with a nucleotide polymorphism impairing correct splicing. Those alleles show aberrant expression levels, due to either a direct effect of the polymorphism on the normal splice site or to the creation of an alternative splice site. Furthermore, in several studies, the presence of alternatively spliced HLA transcripts co-expressed with the mature spliced transcripts was reported. We evaluated the splice site sequences of all known HLA class I alleles and found that, beside the consensus GT and AG sequences at the intron borders, there were some other highly conserved nucleotides for the different class I genes. In this review, we summarize the splicing mechanism and evaluate what is known today about alternative splicing of HLA class I genes.
authors.affiliation: Department of Transplantation Immunology, Tissue Typing Laboratory, Maastricht University Medical Centre, Maastricht, the Netherlands.
authors.forename: C E M
authors.initials: CE
authors.lastname: Voorter
authors.affiliation: Department of Transplantation Immunology, Tissue Typing Laboratory, Maastricht University Medical Centre, Maastricht, the Netherlands.
authors.forename: K E H
authors.initials: KE
authors.lastname: Gerritsen
authors.affiliation: Department of Transplantation Immunology, Tissue Typing Laboratory, Maastricht University Medical Centre, Maastricht, the Netherlands.
authors.forename: M
authors.initials: M
authors.lastname: Groeneweg
authors.affiliation: Department of Transplantation Immunology, Tissue Typing Laboratory, Maastricht University Medical Centre, Maastricht, the Netherlands.
authors.forename: L
authors.initials: L
authors.lastname: Wieten
authors.affiliation: Department of Transplantation Immunology, Tissue Typing Laboratory, Maastricht University Medical Centre, Maastricht, the Netherlands.
authors.forename: M G J
authors.initials: MG
authors.lastname: Tilanus
mesh_terms: D000483:Alleles; D017398:Alternative Splicing; D000818:Animals; D005091:Exons; D005786:Gene Expression Regulation; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D011110:Polymorphism, Genetic; D022821:RNA Splice Sites; D012326:RNA Splicing
chemical_list: D015395:Histocompatibility Antigens Class I; D022821:RNA Splice Sites