Spinal muscular atrophy disrupts the interaction of ZPR1 with the SMN protein
- PMID: 11283611
- DOI: 10.1038/35070059
Spinal muscular atrophy disrupts the interaction of ZPR1 with the SMN protein
Abstract
The survival motor neurons (smn) gene in mice is essential for embryonic viability. In humans, mutation of the telomeric copy of the SMN1 gene causes spinal muscular atrophy, an autosomal recessive disease. Here we report that the SMN protein interacts with the zinc-finger protein ZPR1 and that these proteins colocalize in small subnuclear structures, including gems and Cajal bodies. SMN and ZPR1 redistribute from the cytoplasm to the nucleus in response to serum. This process is disrupted in cells from patients with Werdnig-Hoffman syndrome (spinal muscular atrophy type I) that have SMN1 mutations. Similarly, decreased ZPR1 expression prevents SMN localization to nuclear bodies. Our data show that ZPR1 is required for the localization of SMN in nuclear bodies.
Comment in
-
The survival motor neurons protein uses its ZPR for nuclear localization.Nat Cell Biol. 2001 Apr;3(4):E93-5. doi: 10.1038/35070157. Nat Cell Biol. 2001. PMID: 11283627 No abstract available.
Similar articles
-
ZPR1 is essential for survival and is required for localization of the survival motor neurons (SMN) protein to Cajal bodies.Mol Cell Biol. 2005 Apr;25(7):2744-56. doi: 10.1128/MCB.25.7.2744-2756.2005. Mol Cell Biol. 2005. PMID: 15767679 Free PMC article.
-
The survival motor neuron (SMN) protein: effect of exon loss and mutation on protein localization.Neurogenetics. 2000 Sep;3(1):7-16. doi: 10.1007/s100480000090. Neurogenetics. 2000. PMID: 11085591
-
Distinct domains of the spinal muscular atrophy protein SMN are required for targeting to Cajal bodies in mammalian cells.J Cell Sci. 2006 Feb 15;119(Pt 4):680-92. doi: 10.1242/jcs.02782. Epub 2006 Jan 31. J Cell Sci. 2006. PMID: 16449324
-
Therapeutics development for spinal muscular atrophy.NeuroRx. 2006 Apr;3(2):235-45. doi: 10.1016/j.nurx.2006.01.010. NeuroRx. 2006. PMID: 16554261 Free PMC article. Review.
-
RNA splicing: more clues from spinal muscular atrophy.Curr Biol. 1999 Feb 25;9(4):R140-2. doi: 10.1016/s0960-9822(99)80083-9. Curr Biol. 1999. PMID: 10074419 Review.
Cited by
-
Role of senataxin in R-loop-mediated neurodegeneration.Brain Commun. 2024 Jul 15;6(4):fcae239. doi: 10.1093/braincomms/fcae239. eCollection 2024. Brain Commun. 2024. PMID: 39070547 Free PMC article. Review.
-
Genetic Modifiers for Neuromuscular Diseases.J Neuromuscul Dis. 2014;1(1):3-13. doi: 10.3233/JND-140023. J Neuromuscul Dis. 2014. PMID: 25729645 Free PMC article.
-
The zinc finger protein ZPR1 is a potential modifier of spinal muscular atrophy.Hum Mol Genet. 2012 Jun 15;21(12):2745-58. doi: 10.1093/hmg/dds102. Epub 2012 Mar 14. Hum Mol Genet. 2012. PMID: 22422766 Free PMC article.
-
NSC Physiological Features in Spinal Muscular Atrophy: SMN Deficiency Effects on Neurogenesis.Int J Mol Sci. 2022 Dec 2;23(23):15209. doi: 10.3390/ijms232315209. Int J Mol Sci. 2022. PMID: 36499528 Free PMC article. Review.
-
Phosphorylation and the Cajal body: modification in search of function.Arch Biochem Biophys. 2010 Apr 15;496(2):69-76. doi: 10.1016/j.abb.2010.02.012. Epub 2010 Mar 1. Arch Biochem Biophys. 2010. PMID: 20193656 Free PMC article. Review.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
Molecular Biology Databases
Research Materials
Miscellaneous
