Alternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2

Both survival of motor neuron (SMN) genes are associated with spinal muscular atrophy; mutations in SMN1 cause the disease, and SMN2 modulates its severity. It is established that different alternative splicing of exon 7 occurs for SMN1 and SMN2, and a cryptic exon was recently found in intron 6 of...

Descripción completa

Detalles Bibliográficos
Autores principales: Yoshimoto, Satomi, Harahap, Nur Imma Fatimah, Hamamura, Yuko, Ar Rochmah, Mawaddah, Shima, Ai, Morisada, Naoya, Shinohara, Masakazu, Saito, Toshio, Saito, Kayoko, Lai, Poh San, Matsuo, Masafumi, Awano, Hiroyuki, Morioka, Ichiro, Iijima, Kazumoto, Nishio, Hisahide
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5131094/
https://www.ncbi.nlm.nih.gov/pubmed/27917293
http://dx.doi.org/10.1038/hgv.2016.40
Descripción
Sumario:Both survival of motor neuron (SMN) genes are associated with spinal muscular atrophy; mutations in SMN1 cause the disease, and SMN2 modulates its severity. It is established that different alternative splicing of exon 7 occurs for SMN1 and SMN2, and a cryptic exon was recently found in intron 6 of both genes. Here, we characterize this cryptic exon and clarify its alternative splicing pattern in control and spinal muscular atrophy cells.

Ejemplares similares