Direct interaction of Smn with dp103, a putative RNA helicase: a role for Smn in transcription regulation?

Journal article

Spinal muscular atrophy is an autosomal recessive neurodegenerative disease of childhood, resulting from deletion or mutation of the survival motor neuron ( SMN ) gene on chromosome 5q13. SMN exists as part of a 300 kDa multi-protein complex, incorporating several proteins critically required in pre-mRNA splicing. Although SMN mutations render SMN defective in this role, the specific alpha-motor neuron degenerative phenotype seen in the disease remains unexplained. Here we demonstrate the iso...

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Authors: Campbell, L; Hunter, K; Mohaghegh, P; Tinsley, J; Brasch, M

• Publication status: Published
• Journal: Human molecular genetics
• Volume: 9
• Issue: 7
• Pages: 1093-1100
• Publication date: 2000-04-01
• DOI: 10.1093/hmg/9.7.1093
• EISSN: 1460-2083
• ISSN: 0964-6906
• Language: English
• Keywords: Nerve Tissue Proteins; Molecular Sequence Data; Sequence Homology, Amino Acid; DNA, Complementary; Chromosome Mapping; Exons; RNA Helicases; Chromosomes, Human, Pair 1; Mice; Genes, Reporter; Transcription, Genetic; Gene Expression Regulation; Blotting, Northern; Humans; RNA-Binding Proteins; Amino Acid Sequence; Two-Hybrid System Techniques; SMN Complex Proteins; Protein Binding; Precipitin Tests; DEAD-box RNA Helicases; Cyclic AMP Response Element-Binding Protein; Introns; Animals; DEAD Box Protein 20; Tissue Distribution; RNA, Messenger