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Hum Mol Genet. 2000 Nov 22;9(19):2869-77.

The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in self-association and SIP1 binding.

Author information

1
MRIC Biochemistry Group, North East Wales Institute, Mold Road, Wrexham LL11 2AW, UK.

Erratum in

  • Hum Mol Genet 2001 Jan 1;10(1):88.

Abstract

Spinal muscular atrophy (SMA) is caused by mutations in the SMN (survival of motor neurons) gene and there is a correlation between disease severity and levels of functional SMN protein. Studies of structure-function relationships in SMN protein may lead to a better understanding of SMA pathogenesis. Self-association of the spinal muscular atrophy protein, SMN, is important for its function in RNA splicing. Biomolecular interaction analysis core analysis now shows that SMN self-association occurs via SMN regions encoded by exons 2b and 6, that exon 2b encodes a binding site for SMN-interacting protein-1 and that interaction occurs between exon 2- and 4-encoded regions within the SMN monomer. The presence of two separate self-association sites suggests a novel mechanism by which linear oligomers or closed rings might be formed from SMN monomers.

PMID:
11092763
[Indexed for MEDLINE]

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