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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

Gemin2  -  gem (nuclear organelle) associated protein 2

Mus musculus

Synonyms: 1700012N19Rik, Component of gems 2, Gem-associated protein 2, Gemin-2, SMN-interacting protein 1, ...
 
 
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High impact information on Sip1

  • SMN and the tightly interacting Gemin2 form part of a macromolecular complex (SMN complex) that mediates assembly of spliceosomal small nuclear ribonucleoproteins (U snRNPs) [1].
  • Gene targeting of Gemin2 in mice reveals a correlation between defects in the biogenesis of U snRNPs and motoneuron cell death [1].
  • With the aim of identifying subnuclear compartments corresponding to gems, we have investigated the intranuclear localisation of SMN and of its interacting protein Gemin2 by immunoelectron microscopy in cultured cells and in liver cells of hibernating dormouse [2].
  • Sip1-/-;deltaEF1-/- embryos were similar to Sip1-/- embryos in short somite production and developmental arrest around E8.5, but showed more severe defects in dorsal neural tube morphogenesis accompanied by a larger reduction of Sox2 expression, ascribable to the loss of the ectopic deltaEF1 expression [3].
  • Sip1+/-;deltaEF1-/- embryos develop various morphological defects after E10 that were absent in deltaEF1-/- embryos even in tissues without significant overlap of Sip1 and deltaEF1 expression, and arrested during mid gestation earlier than deltaEF1-/- embryos [3].
 

Other interactions of Sip1

  • Reduced Smn/Gemin2 protein levels lead to disturbed U snRNP assembly as indicated by reduced nuclear accumulation of Sm proteins [1].

References

  1. Gene targeting of Gemin2 in mice reveals a correlation between defects in the biogenesis of U snRNPs and motoneuron cell death. Jablonka, S., Holtmann, B., Meister, G., Bandilla, M., Rossoll, W., Fischer, U., Sendtner, M. Proc. Natl. Acad. Sci. U.S.A. (2002) [Pubmed]
  2. Ultrastructural characterisation of a nuclear domain highly enriched in survival of motor neuron (SMN) protein. Malatesta, M., Scassellati, C., Meister, G., Plöttner, O., Bühler, D., Sowa, G., Martin, T.E., Keidel, E., Fischer, U., Fakan, S. Exp. Cell Res. (2004) [Pubmed]
  3. Complementary expression pattern of Zfhx1 genes Sip1 and deltaEF1 in the mouse embryo and their genetic interaction revealed by compound mutants. Miyoshi, T., Maruhashi, M., Van De Putte, T., Kondoh, H., Huylebroeck, D., Higashi, Y. Dev. Dyn. (2006) [Pubmed]
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