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The Regulation Of Alternative Pre-Mrna Splicing In Photoreceptor Cells., Daniel P. Murphy

Graduate Theses, Dissertations, and Problem Reports

Alternative pre-mRNA splicing provides an important mechanism for generating the diverse array of proteins required to generate complex tissue and cell types from a limited genome. Therefore, the proper regulation of alternative splicing is vital to shape cellular identity and function. As consequence, defects in alternative splicing are associated with disease phenotypes that can range from systemic syndromes to the dysfunction of single cell types. For example, heterozygous mutations in ubiquitously expressed components of the spliceosome lead to photoreceptor specific cell death. This suggests that the topography of alternative splicing in photoreceptors cells may be unique, a notion which is …