Document Detail

Hypomutability at the polyadenine tract in SMN intron 3 shows the invariability of the a-SMN protein structure.
MedLine Citation:
PMID:  18269687     Owner:  NLM     Status:  MEDLINE    
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.
; T H Sasongko; S Yusoff; M J Lee; E Nishioka; M Matsuo; H Nishio
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Annals of human genetics     Volume:  72     ISSN:  0003-4800     ISO Abbreviation:  Ann. Hum. Genet.     Publication Date:  2008 Mar 
Date Detail:
Created Date:  2008-02-13     Completed Date:  2008-05-13     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  0416661     Medline TA:  Ann Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  288-91     Citation Subset:  IM    
Department of Public Health and Genetic Epidemiology, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Japan.
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MeSH Terms
Adenine Nucleotides / genetics
Amino Acid Sequence
Axons / metabolism*
Base Sequence
Cyclic AMP Response Element-Binding Protein / genetics*,  metabolism
Gene Frequency
Introns / genetics
Molecular Sequence Data
Mutation / genetics*
Nerve Tissue Proteins / genetics*,  metabolism
Protein Conformation*
RNA-Binding Proteins / genetics*,  metabolism
SMN Complex Proteins
Sequence Analysis, DNA
Reg. No./Substance:
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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