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 a 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. (C) 2003, Elsevier Inc.