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The role of gene polymorphism in HLA class I splicing
Author(s) -
Voorter C. E. M.,
Gerritsen K. E. H.,
Groeneweg M.,
Wieten L.,
Tilanus M. G. J.
Publication year - 2016
Publication title -
international journal of immunogenetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.41
H-Index - 47
eISSN - 1744-313X
pISSN - 1744-3121
DOI - 10.1111/iji.12256
Subject(s) - rna splicing , human leukocyte antigen , splice , intron , genetics , gene , allele , biology , alternative splicing , exon , antigen , rna
Summary 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.