The pearl mutation in the mouse causes an elevation of retinal scotopic sensitivity, similar to human congenital stationary nightblindness. This hypopigmentation condition is thought to be analogous to the Hermansky Pudlak syndrome, a form of human albinism associated with severe episodes of bleeding. A nondegenerative, autosomal recessive condition, the pearl mutation causes changes in the development of the cells in the retina as well as ongoing morphological and biochemical changes in the adult retina. We are using a combination of positional cloning approaches, including the construction of YAC and PAC contigs, cDNA selection and screening, and exon-trapping to isolate the causative gene. Once the gene responsible for pearl is identified, the structure and the expression of this gene will be determined. PCR-based assays will be developed to determine the involvement of this gene in human conditions. Transgenic and in vitro gene transfer experiments will attempt to reverse or arrest the effects of the original mutation. These studies will aid in our understanding of the development and function of the retina and possible causes of retinal disease.
| Xu, H P; Yanak, B L; Wigler, M H et al. (1996) New polymorphic markers in the vicinity of the pearl locus on mouse chromosome 13. Mamm Genome 7:16-9 |
| Seymour, A B; Yanak, B L; O'Brien, E P et al. (1996) An integrated genetic map of the pearl locus of mouse chromosome 13. Genome Res 6:538-44 |
| Gorin, M B; To, A C; Narfstrom, K (1995) Sequence analysis and exclusion of phosducin as the gene for the recessive retinal degeneration of the Abyssinian cat. Biochim Biophys Acta 1260:323-7 |
| Rikke, B A; Pinto, L H; Gorin, M B et al. (1993) Mus spretus-specific LINE-1 DNA probes applied to the cloning of the murine pearl locus. Genomics 15:291-6 |
| Gorin, M B; Snyder, S; To, A et al. (1993) The cat RDS transcript: candidate gene analysis and phylogenetic sequence analysis. Mamm Genome 4:544-8 |
