Pj. Young et al., The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in self-association and SIP1 binding, HUM MOL GEN, 9(19), 2000, pp. 2869-2877
Spinal muscular atrophy (SMA) is caused by mutations in the SMN (survival o
f motor neurons) gene and there is a correlation between disease severity a
nd levels of functional SMN protein. Studies of structure-function relation
ships in SMN protein may lead to a better understanding of SMA pathogenesis
, Self-association of the spinal muscular atrophy protein, SMN, is importan
t 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 region
s within the SMN monomer, The presence of two separate self-association sit
es suggests a novel mechanism by which linear oligomers or closed rings mig
ht be formed from SMN monomers.