|
Saito Kayoko
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Position Professor (Fixed Term) |
|
| Article types | Original article |
| Language | English |
| Peer review | Non peer reviewed |
| Title | Alternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2. |
| Journal | Formal name：Human genome variation Abbreviation：Hum Genome Var ISSN code：2054345X/2054345X |
| Domestic / Foregin | Foregin |
| Volume, Issue, Page | 3,pp.16040 |
| Author and coauthor | 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 |
| Publication date | 2016 |
| Summary | 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. |
| DOI | 10.1038/hgv.2016.40 |
| PMID | 27917293 |