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.