The role of gene polymorphism in HLA class I splicing

C. E. M. Voorter; K.E.H. Gerritsen; M. Groeneweg; L. Wieten; M. G. J. Tilanus

doi:10.1111/iji.12256

The role of gene polymorphism in HLA class I splicing

C. E. M. Voorter^*, K.E.H. Gerritsen, M. Groeneweg, L. Wieten, M. G. J. Tilanus

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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.

Original language	English
Pages (from-to)	65-78
Journal	International Journal of Immunogenetics
Volume	43
Issue number	2
DOIs	https://doi.org/10.1111/iji.12256
Publication status	Published - Apr 2016

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10.1111/iji.12256

Cite this

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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.",

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AU - Voorter, C. E. M.

AU - Gerritsen, K.E.H.

AU - Groeneweg, M.

AU - Wieten, L.

AU - Tilanus, M. G. J.

PY - 2016/4

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AB - 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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DO - 10.1111/iji.12256

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JO - International Journal of Immunogenetics

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