Spinal muscular atrophy disrupts the interaction of ZPR1 with the SMN protein - PubMed (original) (raw)
Spinal muscular atrophy disrupts the interaction of ZPR1 with the SMN protein
L Gangwani et al. Nat Cell Biol. 2001 Apr.
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.
Matera AG, Hebert MD. Matera AG, et al. Nat Cell Biol. 2001 Apr;3(4):E93-5. doi: 10.1038/35070157. Nat Cell Biol. 2001. PMID: 11283627 No abstract available.
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