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

Sibylle Jablonka, Bettina Holtmann, Gunter Meister, Michael Bandilla, Wilfried Rossoll, Utz Fischer, Michael Sendtner

Research output: Contribution to journalArticle

61 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)10126-10131
Number of pages6
JournalProceedings of the National Academy of Sciences of the United States of America
Volume99
Issue number15
DOIs
StatePublished - Jul 23 2002

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