Key result
Evaluation of splice site sequences of all known HLA class I alleles revealed highly conserved nucleotides for different class I genes beside the consensus GT and AG sequences at intron borders.
This review summarizes the splicing mechanism and alternative splicing of HLA class I genes, noting highly conserved nucleotides beyond consensus sequences.
Supports expanded HLA class I splice-site annotation; leaves open functional validation and clinical relevance in transplantation.
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.
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Voorter et al. (2016) conducted a review in HLA class I gene polymorphism and splicing. Gene polymorphism in HLA class I alleles was evaluated on Splice site sequences and alternative splicing mechanisms. Evaluation of splice site sequences of all known HLA class I alleles revealed highly conserved nucleotides for different class I genes beside the consensus GT and AG sequences at intron borders.
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