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

Satomi Yoshimoto; Nur Imma Fatimah Harahap; Yuko Hamamura; Mawaddah Ar Rochmah; Ai Shima; Naoya Morisada; Masakazu Shinohara; Toshio Saito; Kayoko Saito; Poh San Lai; Masafumi Matsuo; Hiroyuki Awano; Ichiro Morioka; Kazumoto Iijima; Hisahide Nishio

doi:10.1038/hgv.2016.40

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

Hum Genome Var. 2016 Dec 1:3:16040. doi: 10.1038/hgv.2016.40. eCollection 2016.

Authors

Affiliations

¹ Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine , Kobe, Japan.
² Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe, Japan; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
³ Department of Neurology, Toneyama National Hospital , Osaka, Japan.
⁴ Institute of Medical Genetics, Tokyo Women's Medical University , Tokyo, Japan.
⁵ Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore , Singapore, Singapore.
⁶ Department of Medical Rehabilitation, Faculty of Rehabilitation, Kobe Gakuin University , Kobe, Japan.
⁷ Department of Pediatrics, Kobe University Graduate School of Medicine , Kobe, Japan.

Abstract

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.