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 Androphy, Arthur H M Burghes, Glenn E. Morris

Research output: Contribution to journalArticle

75 Citations (Scopus)

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
StatePublished - Nov 22 2000
Externally publishedYes

Fingerprint

Spinal Muscular Atrophy
Motor Neurons
Exons
Proteins
Survival of Motor Neuron 1 Protein
RNA Splicing
Binding Sites
Mutation

ASJC Scopus subject areas

  • Genetics

Cite this

Young, P. J., Man, N. T., Lorson, C. L., Le, T. T., Androphy, E., Burghes, A. H. M., & Morris, G. E. (2000). The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in self-association and SIP1 binding. Human Molecular Genetics, 9(19), 2869-2877.

The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in self-association and SIP1 binding. / Young, Philip J.; Man, Nguyen Thi; Lorson, Christian L.; Le, Thanh T.; Androphy, Elliot; Burghes, Arthur H M; Morris, Glenn E.

In: Human Molecular Genetics, Vol. 9, No. 19, 22.11.2000, p. 2869-2877.

Research output: Contribution to journalArticle

Young, PJ, Man, NT, Lorson, CL, Le, TT, Androphy, E, Burghes, AHM & Morris, GE 2000, 'The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in self-association and SIP1 binding', Human Molecular Genetics, vol. 9, no. 19, pp. 2869-2877.
Young, Philip J. ; Man, Nguyen Thi ; Lorson, Christian L. ; Le, Thanh T. ; Androphy, Elliot ; Burghes, Arthur H M ; Morris, Glenn E. / The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in self-association and SIP1 binding. In: Human Molecular Genetics. 2000 ; Vol. 9, No. 19. pp. 2869-2877.
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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.",
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AU - Androphy, Elliot

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