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Proc Natl Acad Sci U S A. 2002 Jul 23;99(15):10126-31. Epub 2002 Jun 28.

Gene targeting of Gemin2 in mice reveals a correlation between defects in the biogenesis of U snRNPs and motoneuron cell death.

Author information

1
Institute of Clinical Neurobiology, Josef-Schneider Strasse 11, D-97080 Würzburg, Germany.

Abstract

Neuronal degeneration in spinal muscular atrophy is caused by reduced expression of the survival motor neuron (SMN) protein. SMN and the tightly interacting Gemin2 form part of a macromolecular complex (SMN complex) that mediates assembly of spliceosomal small nuclear ribonucleoproteins (U snRNPs). We used mouse genetics to investigate the function of this complex in motoneuron maintenance. Reduced Smn/Gemin2 protein levels lead to disturbed U snRNP assembly as indicated by reduced nuclear accumulation of Sm proteins. This finding correlates with enhanced motoneuron degeneration in Gemin2(+/-)/Smn(+/-) mice. Our data provide in vivo evidence that impaired production of U snRNPs contributes to motoneuron degeneration.

PMID:
12091709
PMCID:
PMC126635
DOI:
10.1073/pnas.152318699
[Indexed for MEDLINE]
Free PMC Article

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