
pmid: 11784037
From a screen for genes expressed and required in the Drosophila salivary gland, we identified pasilla (ps), which encodes a set of proteins most similar to human Nova-1 and Nova-2. Nova-1 and Nova-2 are nuclear RNA-binding proteins normally expressed in the CNS where they directly regulate splicing. In patients suffering from paraneoplastic opsoclonus myoclonus ataxia (POMA), Nova-1 and Nova-2 proteins are present as auto-antigens. Consistent with a role in splicing, PS is localized to nuclear puncta. The salivary glands of ps mutants internalize normally and maintain epithelial polarity. However, the mutant salivary glands develop irregularities in overall morphology and have defects in apical secretion. The secretory defects in ps mutants provide a potential mechanism for the loss of motor function observed in POMA patients.
RNA-binding protein, Molecular Sequence Data, morphogenesis, salivary gland, Nerve Tissue Proteins, KH-domain, Autoantigens, splicing, Antigens, Neoplasm, Animals, Drosophila Proteins, Humans, Amino Acid Sequence, Cloning, Molecular, Molecular Biology, Alleles, In Situ Hybridization, Gene Library, Cell Nucleus, Base Sequence, Models, Genetic, Genetic Complementation Test, Cell Biology, POMA, secretion, Microscopy, Electron, Mutagenesis, Mutation, Drosophila, Nova-1, Nova-2, Developmental Biology
RNA-binding protein, Molecular Sequence Data, morphogenesis, salivary gland, Nerve Tissue Proteins, KH-domain, Autoantigens, splicing, Antigens, Neoplasm, Animals, Drosophila Proteins, Humans, Amino Acid Sequence, Cloning, Molecular, Molecular Biology, Alleles, In Situ Hybridization, Gene Library, Cell Nucleus, Base Sequence, Models, Genetic, Genetic Complementation Test, Cell Biology, POMA, secretion, Microscopy, Electron, Mutagenesis, Mutation, Drosophila, Nova-1, Nova-2, Developmental Biology
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