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A Novel Function for SMN, the Spinal Muscular Atrophy Disease Gene Product, in Pre-mRNA Splicing

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Pellizzoni, Livio, Kataoka, Naoyuki, Charroux, Bernard, Dreyfuss, Gideon·1998·Cell

Abstract

Spinal muscular atrophy (SMA) is a common motor neuron degenerative disease that results from reduced levels of, or mutations in, the Survival of Motor Neurons (SMN) protein. SMN is found in the cytoplasm and the nucleus where it is concentrated in gems. SMN interacts with spliceosomal snRNP proteins and is critical for snRNP assembly in the cytoplasm. We show that a dominant-negative mutant SMN (SMNdeltaN27) causes a dramatic reorganization of snRNPs in the nucleus. Furthermore, SMNdeltaN27 inhibits pre-mRNA splicing in vitro, while wild-type SMN stimulates splicing. SMN mutants found in SMA patients cannot stimulate splicing. These findings demonstrate that SMN plays a crucial role in the generation of the pre-mRNA splicing machinery and thus in mRNA biogenesis, and they link the function of SMN in this pathway to SMA.

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Metadata

Authors
Pellizzoni, L., Kataoka, N., Charroux, B., & Dreyfuss, G.
Venue
Cell
Publisher
Elsevier BV
Published
1998-11
Volume
95
Issue
5
Pages
615-624
ISSN
0092-8674 (ISSN-L)
OpenAlex
W1996412713
Cited by
558
References
0
FWCI
29.79
Type
journal article
Language
en
Open access
hybrid

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CoChat. (2026). Citation check: A Novel Function for SMN, the Spinal Muscular Atrophy Disease Gene Product, in Pre-mRNA Splicing. https://app.cochat.ai/papers/10.1016/s0092-8674(00)81632-3
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Pellizzoni, L., Kataoka, N., Charroux, B., & Dreyfuss, G. (1998). A Novel Function for SMN, the Spinal Muscular Atrophy Disease Gene Product, in Pre-mRNA Splicing. Cell. https://doi.org/10.1016/s0092-8674(00)81632-3

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