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3′ Splice Site Sequences of Spinal Muscular Atrophy Related SMN2 Pre-mRNA Include Enhancers for Nearby Exons
Joint Authors
Liao, D. Joshua
Cho, Sunghee
Moon, Heegyum
Loh, Tiing Jen
Oh, Hyun Kyung
Zhou, Jianhua
Zheng, Xuexiu
Shen, Haihong
Shin, Myung-Geun
Kim, Hye-Ran
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-9, 9 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-01-27
Country of Publication
Egypt
No. of Pages
9
Main Subjects
Medicine
Information Technology and Computer Science
Abstract EN
Spinal muscular atrophy (SMA) is a human genetic disease which occurs because of the deletion or mutation of SMN1 gene.
SMN1 gene encodes the SMN protein which plays a key role in spliceosome assembly.
Although human patients contain SMN2, a duplicate of SMN1, splicing of SMN2 produces predominantly exon 7 skipped isoform.
In order to understand the functions of splice site sequences on exon 7 and 8, we analyzed the effects of conserved splice site sequences on exon 7 skipping of SMN2 and SMN1 pre-mRNA.
We show here that conserved 5′ splice site sequence of exon 7 promoted splicing of nearby exons and subsequently reduced splicing of distant exons.
However, to our surprise, conserved 3′ splice site sequence of exon 7 and 8 did not promote splicing of nearby exons.
By contrast, the mutation inhibited splicing of nearby exons and subsequently promoted splicing of distant exons.
Our study shows that 3′ splice sites of exon 7 and 8 contain enhancer for their splice site selection, in addition to providing cleavage sites.
American Psychological Association (APA)
Cho, Sunghee& Moon, Heegyum& Loh, Tiing Jen& Oh, Hyun Kyung& Kim, Hye-Ran& Shin, Myung-Geun…[et al.]. 2014. 3′ Splice Site Sequences of Spinal Muscular Atrophy Related SMN2 Pre-mRNA Include Enhancers for Nearby Exons. The Scientific World Journal،Vol. 2014, no. 2014, pp.1-9.
https://search.emarefa.net/detail/BIM-1050357
Modern Language Association (MLA)
Cho, Sunghee…[et al.]. 3′ Splice Site Sequences of Spinal Muscular Atrophy Related SMN2 Pre-mRNA Include Enhancers for Nearby Exons. The Scientific World Journal No. 2014 (2014), pp.1-9.
https://search.emarefa.net/detail/BIM-1050357
American Medical Association (AMA)
Cho, Sunghee& Moon, Heegyum& Loh, Tiing Jen& Oh, Hyun Kyung& Kim, Hye-Ran& Shin, Myung-Geun…[et al.]. 3′ Splice Site Sequences of Spinal Muscular Atrophy Related SMN2 Pre-mRNA Include Enhancers for Nearby Exons. The Scientific World Journal. 2014. Vol. 2014, no. 2014, pp.1-9.
https://search.emarefa.net/detail/BIM-1050357
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1050357