Exploring Mechanisms Underlying Retinitis Pigmentosa by Using Temperature Sensitive Alleles in Yeast
Year: 2014
Type: dissertation
Abstract: Retinitis pigmentosa (RP) is characterized by progressive degeneration of the photoreceptors and visual field defects. No drug treatment has yet been found for this disease. Mutations in more than 60 genes are known to cause RP. One group of genes that was found to be mutated in retinitis pigmentosa is encoding pre-mRNA processing proteins; hPrp3, hPrp6, hPrp8, hPrp31, and hBrr2 that are homologous between human and Saccharomyces cerevisiae. In the project described here, I introduced the RP-related mutations into their yeast homologs and tested for temperature sensitivity. Two out of thirteen tried mutations resulted in a temperature sensitive phenotype. Using both available ts strains and ts strains containing RP point mutations, extragenic suppressors were isolated. Whole genome sequencing was used to identify the suppressor genes. As chemical perturbations may mimic genetic perturbations, these suppressor genes can potentially lead us to new alternative drug targets for this genetic disease.
Source: TSpace (University of Toronto)
Author: Zahra Naghdigheshlaghi
Language: English
Topic: RNA Research and Splicing
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W2623765510