The role of gene polymorphism in HLA class I splicing.
Int J Immunogenet
; 43(2): 65-78, 2016 Apr.
Article
em En
| MEDLINE
| ID: mdl-26920492
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Polimorfismo Genético
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Antígenos de Histocompatibilidade Classe I
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Splicing de RNA
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article