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

Philip J. Young, Nguyen Thi Man, Christian L. Lorson, Thanh T. Le, Elliot J. Androphy, Arthur H.M. Burghes, Glenn E. Morris

Research output: Contribution to journalArticlepeer-review

76 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)2869-2877
Number of pages9
JournalHuman molecular genetics
Volume9
Issue number19
DOIs
StatePublished - Nov 22 2000

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in self-association and SIP1 binding'. Together they form a unique fingerprint.

Cite this