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

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.

SUBMITTER: Yoshimoto S

PROVIDER: S-EPMC5131094 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature

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

Yoshimoto Satomi S Harahap Nur Imma Fatimah NI Hamamura Yuko Y Ar Rochmah Mawaddah M Shima Ai A Morisada Naoya N Shinohara Masakazu M Saito Toshio T Saito Kayoko K Lai Poh San PS Matsuo Masafumi M Awano Hiroyuki H Morioka Ichiro I Iijima Kazumoto K Nishio Hisahide H

Human genome variation 20161201

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. ...[more]

PMID: 27917293

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