Spinal muscular atrophy disrupts the interaction of ZPR1 with the SMN protein
Copyright policy )Spinal muscular atrophy disrupts the interaction of ZPR1 with the SMN protein
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.
- Assumption College United States
- University of Massachusetts Medical School United States
- Howard Hughes Medical Institute United States
Cell Nucleus, Cytoplasm, Membrane Transport Proteins, RNA-Binding Proteins, Nerve Tissue Proteins, SMN Complex Proteins, Zinc Fingers, Survival of Motor Neuron 1 Protein, Muscular Atrophy, Spinal, Alternative Splicing, COS Cells, Chlorocebus aethiops, RNA Precursors, Animals, Humans, Carrier Proteins, Cyclic AMP Response Element-Binding Protein, HeLa Cells
Cell Nucleus, Cytoplasm, Membrane Transport Proteins, RNA-Binding Proteins, Nerve Tissue Proteins, SMN Complex Proteins, Zinc Fingers, Survival of Motor Neuron 1 Protein, Muscular Atrophy, Spinal, Alternative Splicing, COS Cells, Chlorocebus aethiops, RNA Precursors, Animals, Humans, Carrier Proteins, Cyclic AMP Response Element-Binding Protein, HeLa Cells
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