Spinal muscular atrophy disrupts the interaction of ZPR1 with the SMN protein
- 9 March 2001
- journal article
- Published by Springer Nature in Nature Cell Biology
- Vol. 3 (4) , 376-383
- https://doi.org/10.1038/35070059
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.Keywords
This publication has 42 references indexed in Scilit:
- The Relationship between SMN, the Spinal Muscular Atrophy Protein, and Nuclear Coiled Bodies in Differentiated Tissues and Cultured CellsExperimental Cell Research, 2000
- An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)Human Mutation, 2000
- The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn-/- mice and results in a mouse with spinal muscular atrophyHuman Molecular Genetics, 2000
- A mouse model for spinal muscular atrophyNature Genetics, 2000
- The Spinal Muscular Atrophy Disease Gene Product, SmnThe Journal of cell biology, 1999
- Coiled Bodies and Gems: Janus or Gemini?American Journal of Human Genetics, 1998
- The SMN–SIP1 Complex Has an Essential Role in Spliceosomal snRNP BiogenesisCell, 1997
- Correlation between severity and SMN protein level in spinal muscular atrophyNature Genetics, 1997
- Identification and characterization of a spinal muscular atrophy-determining geneCell, 1995
- International SMA Consortium Meeting (26–28 June 1992, Bonn, Germany)Neuromuscular Disorders, 1992