Cell-specific RNA-binding proteins in human disease.
Cell-specific RNA-binding proteins (RBPs) are involved in a variety of processes that are critical for appropriate protein expression (e.g., alternative splicing of messenger RNAs and translational control). Perturbation of the normal functions of RBPs has been implicated in a number of clinical disorders. Disease-related RBPs include the CELF proteins, which are believed to play roles in normal heart and skeletal muscle development and in the pathology of myotonic dystrophy; the Nova autoimmune antigens, which are neuron-specific proteins involved in the pathogenesis of the neurodegenerative syndrome paraneoplastic opsoclonus-myoclonus ataxia; and the alphaCP proteins, which were originally discovered by virtue of their connection to alpha thalassemia. These proteins are representative of a potentially large repertoire of cell-specific RBPs that, together, help to distinguish among the various cell types. Structure/function studies of these RBPs have begun to yield important insights into how they help to shape the protein expression programs unique to heart, skeletal muscle, brain, and other tissues.
Musunuru
Kiran
K
Laboratories of Molecular Biophysics and Molecular Neuro-Oncology, The Rockefeller University, Box 386, 1230 York Avenue, New York, NY 10021, USA. musunuk@rockvax.rockefeller.edu
D017398:Alternative Splicing / Q000235:genetics*; D000067878:CELF Proteins; D000067879:CELF1 Protein; D002318:Cardiovascular Diseases / Q000235:genetics; D006801:Humans; D009223:Myotonic Dystrophy / Q000235:genetics*; D020361:Paraneoplastic Syndromes, Nervous System / Q000235:genetics; D016601:RNA-Binding Proteins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000235:genetics
D000067878:CELF Proteins; D000067879:CELF1 Protein; C102843:CELF1 protein, human; C422242:CELF3 protein, human; D016601:RNA-Binding Proteins