Titin diversity--alternative splicing gone wild.
J Biomed Biotechnol
; 2010: 753675, 2010.
Article
em En
| MEDLINE
| ID: mdl-20339475
ABSTRACT
Titin is an extremely large protein found in highest concentrations in heart and skeletal muscle. The single mammalian gene is expressed in multiple isoforms as a result of alternative splicing. Although titin isoform expression is controlled developmentally and in a tissue specific manner, the vast number of potential splicing pathways far exceeds those described in any other alternatively spliced gene. Over 1 million human splice pathways for a single individual can be potentially derived from the PEVK region alone. A new splicing pattern for the human cardiac N2BA isoform type has been found in which the PEVK region includes only the N2B type exons. The alterations in splicing and titin isoform expression in human heart disease provide impetus for future detailed study of the splicing mechanisms for this giant protein.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas Quinases
/
Proteínas Musculares
Limite:
Animals
/
Humans
Idioma:
En
Revista:
J Biomed Biotechnol
Assunto da revista:
BIOTECNOLOGIA
/
MEDICINA
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
Estados Unidos