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Alternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2.
Human Genome Variation Pub Date : 2016-12-06 , DOI: 10.1038/hgv.2016.40
Satomi Yoshimoto 1 , Nur Imma Fatimah Harahap 1 , Yuko Hamamura 1 , Mawaddah Ar Rochmah 1 , Ai Shima 1 , Naoya Morisada 2 , Masakazu Shinohara 1 , Toshio Saito 3 , Kayoko Saito 4 , Poh San Lai 5 , Masafumi Matsuo 6 , Hiroyuki Awano 7 , Ichiro Morioka 7 , Kazumoto Iijima 7 , Hisahide Nishio 2
Affiliation  

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.

中文翻译:

嵌入SMN1和SMN2内含子6的隐秘外显子的选择性剪接。

运动神经元(SMN)基因的两种存活都与脊髓性肌萎缩有关;SMN1中的突变会导致疾病,而SMN2会调节疾病的严重程度。已经确定,SMN1和SMN2发生外显子7的不同可变剪接,并且最近在两个基因的内含子6中发现了一个隐秘外显子。在这里,我们表征此隐性外显子,并阐明其在对照和脊髓性肌萎缩细胞中的替代剪接模式。
更新日期:2019-11-01
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