title: Alternative splicing of a cryptic exon embedded in intron 6 ofSMN1andSMN2.
abstract: Both survival of motor neuron (SMN) genes are associated with spinal muscular atrophy; mutations inSMN1cause the disease, andSMN2modulates its severity. It is established that different alternative splicing of exon 7 occurs forSMN1andSMN2, 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.
authors.affiliation: Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine , Kobe, Japan.
authors.forename: Satomi
authors.initials: S
authors.lastname: Yoshimoto
authors.affiliation: Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine , Kobe, Japan.
authors.forename: Nur Imma Fatimah
authors.initials: NI
authors.lastname: Harahap
authors.affiliation: Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine , Kobe, Japan.
authors.forename: Yuko
authors.initials: Y
authors.lastname: Hamamura
authors.affiliation: Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine , Kobe, Japan.
authors.forename: Mawaddah
authors.initials: M
authors.lastname: Ar Rochmah
authors.affiliation: Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine , Kobe, Japan.
authors.forename: Ai
authors.initials: A
authors.lastname: Shima
authors.affiliation: 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.
authors.forename: Naoya
authors.initials: N
authors.lastname: Morisada
authors.affiliation: Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine , Kobe, Japan.
authors.forename: Masakazu
authors.initials: M
authors.lastname: Shinohara
authors.affiliation: Department of Neurology, Toneyama National Hospital , Osaka, Japan.
authors.forename: Toshio
authors.initials: T
authors.lastname: Saito
authors.affiliation: Institute of Medical Genetics, Tokyo Women's Medical University , Tokyo, Japan.
authors.forename: Kayoko
authors.initials: K
authors.lastname: Saito
authors.affiliation: Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore , Singapore, Singapore.
authors.forename: Poh San
authors.initials: PS
authors.lastname: Lai
authors.affiliation: Department of Medical Rehabilitation, Faculty of Rehabilitation, Kobe Gakuin University , Kobe, Japan.
authors.forename: Masafumi
authors.initials: M
authors.lastname: Matsuo
authors.affiliation: Department of Pediatrics, Kobe University Graduate School of Medicine , Kobe, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Awano
authors.affiliation: Department of Pediatrics, Kobe University Graduate School of Medicine , Kobe, Japan.
authors.forename: Ichiro
authors.initials: I
authors.lastname: Morioka
authors.affiliation: Department of Pediatrics, Kobe University Graduate School of Medicine , Kobe, Japan.
authors.forename: Kazumoto
authors.initials: K
authors.lastname: Iijima
authors.affiliation: 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.
authors.forename: Hisahide
authors.initials: H
authors.lastname: Nishio