Abstract：
:Although most patients with spinal muscular atrophy (SMA) are homozygous for deletion of the SMN1 gene, some patients bear one SMN1 copy with a subtle mutation. Detection of such an intragenic mutation may be helpful not only in confirming diagnosis but also in elucidating functional domains of the SMN protein. In this study, we identified a novel mutation in SMN1 of two Japanese patients with type I SMA. DHPLC and sequencing analysis revealed that they harbored a point mutation in SMN1 exon 3, 275G > C, leading to tryptophan-to-serine substitution at amino acid 92 (W92S) at the Nterminal of SMN Tudor domain. In-vitro protein binding assays showed that the mutation severely reduced interaction of the domain with SmB protein and fibrillarin, suggesting that it impairs the critical function of SMN. In conclusion, we reported here that a novel mutation, W92S, in the Tudor domain affects the interaction of SMN with the target proteins.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Kotani T,Sutomo R,Sasongko TH,Sadewa AH,Gunadi,Minato T,Fujii E,Endo S,Lee MJ,Ayaki H,Harada Y,Matsuo M,Nishio Hdoi
10.1007/s00415-006-0410-xsubject
Has Abstractpub_date
2007-05-01 00:00:00pages
624-30issue
5eissn
0340-5354issn
1432-1459journal_volume
254pub_type
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