The role of gene polymorphism in HLA class I splicing

被引：21
|
作者：
Voorter, C. E. M. [1 ]
Gerritsen, K. E. H. [1 ]
Groeneweg, M. [1 ]
Wieten, L. [1 ]
Tilanus, M. G. J. [1 ]
机构：
[1] Maastricht Univ, Med Ctr, Dept Transplantat Immunol, Tissue Typing Lab, NL-6202 AZ Maastricht, Netherlands
来源：
INTERNATIONAL JOURNAL OF IMMUNOGENETICS | 2016年 / 43卷 / 02期
关键词：
G MESSENGER-RNA; HLA-A-ASTERISK-24; ALLELE; HUMAN TROPHOBLASTS; CODING SEQUENCES; SBT APPROACH; CELL-LINE; EXPRESSION; SITE; TRANSCRIPTS; DELETION;
D O I：
10.1111/iji.12256
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
引用
收藏
页码：65 / 78
页数：14
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