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Human Molecular Genetics, 2000, Vol. 9, No. 19 2869-2877
© 2000 Oxford University Press

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

Philip J. Young1, Nguyen thi Man1, Christian L. Lorson2, Thanh T. Le4, Elliot J. Androphy2,3, Arthur H.M. Burghes4 and Glenn E. Morris1,+

1MRIC Biochemistry Group, North East Wales Institute, Mold Road, Wrexham LL11 2AW, UK, 2Department of Dermatology and 3Department of Molecular Biology and Microbiology, New England Medical Center and Tufts University School of Medicine, Boston, MA 02111, USA and 4Department of Medical Biochemistry, Ohio State University, Columbus, OH 43210, USA

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.

+ To whom correspondence should be addressed. Tel: +44 1978 293 082; Fax: 44 1978 290 008; Email: morrisge@newi.ac.uk


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