Human Molecular Genetics, Vol 7, 2149-2156, Copyright © 1998 by Oxford University Press
K Talbot, I Miguel-Aliaga, P Mohaghegh, CP Ponting and KE Davies
Mutations in the gene encoding the Survival Motor Neuron (SMN) protein are
responsible for autosomal recessive proximal spinal muscular atrophy (SMA).
SMN orthologues have been identified in the nematode worm Caenorhabditis
elegans and the yeast Schizosaccharomyces pombe but, to date, no human
paralogues have been described. Here we describe identification and
characterization of an SMN-related protein (SMNrp) gene that encodes a
novel protein of 239 amino acids, which has recently been identified as a
constituent of the spliceosome complex and designated SPF30. Significant
similarity to the SMN protein is apparent only within a central region of
SMNrp that represents a tudor domain. The SMNrp/SPF30 gene has been mapped
to chromosome 10q23. It is differentially expressed, with abundant levels
in skeletal muscle. An exclusively nuclear localization for SMNrp in
cultured cells and muscle sections was revealed using GFP fusion constructs
and thereafter confirmed with a polyclonal antibody raised against SMNrp.
Overexpression of SMNrp as a fusion protein in HeLa cells in culture
induced dose-dependent apoptosis with positive TUNEL staining. In addition
to a possible role for this protein as a pro-apoptotic factor, SMN and its
related protein share significant similarities in sequence and cellular
function.
ARTICLES
Characterization of a gene encoding survival motor neuron (SMN)-related protein, a constituent of the spliceosome complex
Department of Human Anatomy and Genetics, University of Oxford, South Parks Road, Oxford OX1 3QU, UK.
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