Pre-mRNA missplicing as a cause of human disease.
Prog Mol Subcell Biol
; 44: 27-46, 2006.
Article
em En
| MEDLINE
| ID: mdl-17076263
ABSTRACT
Regulated alternative splice site selection emerges as one of the most important mechanisms to control the expression of genetic information in humans. It is therefore not surprising that a growing number of diseases are either associated with or caused by changes in alternative splicing. These diseases can be caused by mutation in regulatory sequences of the pre-mRNA or by changes in the concentration of trans-acting factors. The pathological expression of mRNA isoforms can be treated by transferring nucleic acids derivatives into cells that interfere with sequence elements on the pre-mRNA, which results in the desired splice site selection. Recently, a growing number of low molecular weight drugs have been discovered that influence splice site selection in vivo. These findings prove the principle that diseases caused by missplicing events could eventually be cured.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Precursores de RNA
/
Splicing de RNA
/
Doença
Limite:
Humans
Idioma:
En
Revista:
Prog Mol Subcell Biol
Ano de publicação:
2006
Tipo de documento:
Article
País de afiliação:
Alemanha