2008年3月
Hypomutability at the polyadenine tract in SMN intron 3 shows the invariability of the a-SMN protein structure
ANNALS OF HUMAN GENETICS
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- 巻
- 72
- 号
- 開始ページ
- 288
- 終了ページ
- 291
- 記述言語
- 英語
- 掲載種別
- DOI
- 10.1111/j.1469-1809.2007.00409.x
- 出版者・発行元
- WILEY-BLACKWELL
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.
- リンク情報
- ID情報
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- DOI : 10.1111/j.1469-1809.2007.00409.x
- ISSN : 0003-4800
- eISSN : 1469-1809
- Web of Science ID : WOS:000252928000014