This week's artwork was donated by Sharon, a pediatric cancer patient who received treatment at The Children's Hospital of Philadelphia . Wilms' Tumor, Hereditary - May 2000 Table of Contents RNA processing and human disease.
Gene expression involves multiple regulated steps leading from gene to active protein.
Many of these steps involve some aspect of RNA processing. Diseases caused by mutations that directly affect RNA processing are relatively rare compared with mutations that disrupt protein function. Clearly, alterations that disrupt splicing of pre-mRNAs from large numbers of genes would be lethal at the cellular level. A common theme among these diseases is that only subsets of genes are affected. Although the search strategy has been refined as best as possible, citations may appear that are not directly related to the topic, and occasionally relevant references may be omitted.