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
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.
2016: Human Genome Variation