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Spinal muscular atrophy is a neurodegenerative disorder caused by mutations or deletions in the survival motor neuron (SMN) gene. We have cloned the Drosophila ortholog of SMN (DmSMN) and disrupted its function by ectopically expressing human SMN. This leads to pupal lethality caused by a dominant-negative effect, whereby human SMN may bind endogenous DmSMN resulting in non-functional DmSMN/human SMN hetero-complexes. Ectopic expression of truncated versions of DmSMN and yeast two-hybrid analysis show that the C-terminus of SMN is necessary and sufficient to replicate this effect. We have therefore generated a system which can be utilized to carry out suppressor and high-throughput screens, and provided in vivo evidence for the importance of SMN oligomerization for SMN function at the level of an organism as a whole.

Original publication

DOI

10.1016/s0014-5793(00)02243-2

Type

Journal article

Journal

FEBS Lett

Publication Date

08/12/2000

Volume

486

Pages

99 - 102

Keywords

Amino Acid Sequence, Animals, Base Sequence, Cyclic AMP Response Element-Binding Protein, DNA, Complementary, Drosophila melanogaster, Gene Expression, Humans, In Situ Hybridization, Insect Proteins, Molecular Sequence Data, Nerve Tissue Proteins, Phenotype, Pupa, RNA-Binding Proteins, SMN Complex Proteins, Sequence Homology, Amino Acid