The dystrophin gene is alternatively spliced throughout its coding sequence

FEBS Letters

Bresolin, N²  Cagliani, R²  Sironi, M²  Comi, G.P¹  Pozzoli, U²  Giorda, R²  Bardoni, A² 

[1] Centro Dino Ferrari, Istituto di Clinica Neurologica, Università di Milano, IRCCS Ospedale Maggiore Policlinico, Milan, Italy;IRCCS E. Medea, Associazione La Nostra Famiglia, Via Don Luigi Monza 20, 23842 Bosisio Parini (LC), Italy

关键词: Alternative splicing;    Dystrophin;    Duchenne muscular dystrophy;    Becker muscular dystrophy;    Exon skipping;    Intron removal;    Exon codon phase;   

DOI  :  10.1016/S0014-5793(02)02613-3

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

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.

【 授权许可】

Unknown