This subproject is one of many research subprojects utilizing theresources provided by a Center grant funded by NIH/NCRR. The subproject andinvestigator (PI) may have received primary funding from another NIH source,and thus could be represented in other CRISP entries. The institution listed isfor the Center, which is not necessarily the institution for the investigator.Pre-mRNA splicing is critical for eukaryotic gene expression and errors in splicing contribute to at least 15% of human genetic disorders, such as Retinitis Pigmentosa, Spinal Muscular Atrophy, Myotonic Dystrophy, Frasier Syndrome, Familial Isolated Growth Hormone Deficiency Type II, Cystic Fibrosis, Glanzmann Thrombasthenia, Hereditary Tyrosinemia Type I, Leigh's Encephalomyelopathy, Beta-Thalassemia, Marfan Syndrome, and SandHoff Disease. The more thoroughly we understand the molecular mechanism of pre-mRNA splicing, the more likely we can correct aberrant splicing that cause genetic disorders without affecting normal splicing. Prp8 is a critical pre-mRNA splicing factor and mutations in human Prp8 cause a severe form of Retinitis Pigmentosa, an autosomal dominant genetic disorder that leads to progressive loss of vision and blindness. We have crystallized a domain of Prp8 and intend to determine the crystal structure of this domain. Understanding the structure and function of Prp8 in pre-mRNA splicing and Retinitis Pigmentosa may lead to potential treatment for Retinitis Pigmentosa and other genetic disorders.
Showing the most recent 10 out of 167 publications
