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

doi:10.1073/pnas.152318699

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

Neuroscience

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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 language	English (US)
Pages (from-to)	10126-10131
Number of pages	6
Journal	Proceedings of the National Academy of Sciences of the United States of America
Volume	99
Issue number	15
DOIs	https://doi.org/10.1073/pnas.152318699
State	Published - Jul 23 2002

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Jablonka, S., Holtmann, B., Meister, G., Bandilla, M., Rossoll, W., Fischer, U., & Sendtner, M. (2002). Gene targeting of Gemin2 in mice reveals a correlation between defects in the biogenesis of U snRNPs and motoneuron cell death. Proceedings of the National Academy of Sciences of the United States of America, 99(15), 10126-10131. https://doi.org/10.1073/pnas.152318699

Gene targeting of Gemin2 in mice reveals a correlation between defects in the biogenesis of U snRNPs and motoneuron cell death. / Jablonka, Sibylle; Holtmann, Bettina; Meister, Gunter et al.
In: Proceedings of the National Academy of Sciences of the United States of America, Vol. 99, No. 15, 23.07.2002, p. 10126-10131.

Research output: Contribution to journal › Article › peer-review

Jablonka, S, Holtmann, B, Meister, G, Bandilla, M, Rossoll, W, Fischer, U & Sendtner, M 2002, 'Gene targeting of Gemin2 in mice reveals a correlation between defects in the biogenesis of U snRNPs and motoneuron cell death', Proceedings of the National Academy of Sciences of the United States of America, vol. 99, no. 15, pp. 10126-10131. https://doi.org/10.1073/pnas.152318699

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

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