嵌入于[具体基因1]和[具体基因2]第6内含子中的一个隐蔽外显子的可变剪接。
Alternative splicing of a cryptic exon embedded in intron 6 of and .
作者信息
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
机构信息
Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine , Kobe, Japan.
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.
出版信息
Hum Genome Var. 2016 Dec 1;3:16040. doi: 10.1038/hgv.2016.40. eCollection 2016.
Both survival of motor neuron () genes are associated with spinal muscular atrophy; mutations in cause the disease, and modulates its severity. It is established that different alternative splicing of exon 7 occurs for and , 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.
运动神经元存活（SMN）基因均与脊髓性肌萎缩症相关；SMN1基因的突变会引发该病，而SMN2基因则会调节其严重程度。现已确定，SMN1和SMN2基因的外显子7存在不同的可变剪接，并且最近在这两个基因的内含子6中发现了一个隐蔽外显子。在此，我们对这个隐蔽外显子进行了表征，并阐明了其在对照细胞和脊髓性肌萎缩症细胞中的可变剪接模式。
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