| Hypomutability at the polyadenine tract in SMN intron 3 shows the invariability of the a-SMN protein structure. | |
MedLine Citation:
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PMID: 18269687 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Recently, the axonal-SMN (a-SMN) protein, which is generated by the gene responsible for spinal muscular atrophy (SMA), SMN, has been reported. Surprisingly, the a-SMN transcript includes the entire sequence of SMN intron 3. We had expected a high frequency of insertion/deletion mutations at a polyadenine tract in this intron, since simple repetitive sequence motifs are prone to mutations. Such mutations could change the C-terminal structure of the a-SMN protein. However, our study showed that almost all individuals, including healthy individuals, SMA patients and SMA-like patients, carried only alleles with a normal polyadenine tract. Hypomutability of the polyadenine tract in SMN intron 3 suggests the existence of transcriptional mechanisms preventing alterations to the open reading frame of axonal SMN and not allowing variability in the protein structure of a-SMN. |
Authors:
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; T H Sasongko; S Yusoff; M J Lee; E Nishioka; M Matsuo; H Nishio |
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Publication Detail:
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Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Annals of human genetics Volume: 72 ISSN: 0003-4800 ISO Abbreviation: Ann. Hum. Genet. Publication Date: 2008 Mar |
Date Detail:
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Created Date: 2008-02-13 Completed Date: 2008-05-13 Revised Date: 2008-11-21 |
Medline Journal Info:
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Nlm Unique ID: 0416661 Medline TA: Ann Hum Genet Country: England |
Other Details:
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Languages: eng Pagination: 288-91 Citation Subset: IM |
Affiliation:
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Department of Public Health and Genetic Epidemiology, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Japan. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adenine Nucleotides
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genetics Amino Acid Sequence Axons / metabolism* Base Sequence Cyclic AMP Response Element-Binding Protein / genetics*, metabolism Female Gene Frequency Humans Introns / genetics Male Molecular Sequence Data Mutation / genetics* Nerve Tissue Proteins / genetics*, metabolism Protein Conformation* RNA-Binding Proteins / genetics*, metabolism SMN Complex Proteins Sequence Analysis, DNA |
| Chemical | |
Reg. No./Substance:
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0/Adenine Nucleotides; 0/Cyclic AMP Response Element-Binding Protein; 0/Nerve Tissue Proteins; 0/RNA-Binding Proteins; 0/SMN Complex Proteins |
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