The dystrophin gene is alternatively spliced throughout its coding sequence.
FEBS Lett
; 517(1-3): 163-6, 2002 Apr 24.
Article
em En
| MEDLINE
| ID: mdl-12062429
ABSTRACT
We have analysed splicing patterns in the human dystrophin gene region encoding the rod and cysteine-rich domains in normal skeletal muscle, brain and heart tissues. Sixteen novel alternative transcripts were identified, the majority of them being present in all three tissues. Tissue-specific variants were also identified, suggesting a functional role of transcriptional diversity. Transcript analysis in dystrophinopathic autoptic and bioptic specimens revealed that pre-mRNAs secondary structure formation and relative strength of exon/exon association play little or no role in directing alternative splicing events. This analysis also showed that independent deletion events leading to the loss of the same exons may be associated with transcriptional variability.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Distrofina
/
Processamento Alternativo
/
Músculo Esquelético
Limite:
Humans
Idioma:
En
Revista:
FEBS Lett
Ano de publicação:
2002
Tipo de documento:
Article
País de afiliação:
Itália