The long range objective of this project is to identify the gene responsible for a specific human retinal degeneration, the X-linked cone-rod dystrophy (COD-1) and eventually understand its function in the retina. We began linkage studies on COD-1 over nine years ago and we have refined the COD-1 locus to a limited region of Xp11.4. We have access to at least 13 COD-1 families which we will use to further localize and test for the causative gene using a combination of positional and candidate gene screening methodologies. We will identify and characterize the candidate genes using genomic informatics and by direct characterization of COD-I critical region, as defined by linkage mapping and haplotype analyses. We will perform mutation screening of candidate genes using DNA from affected COD-I individuals. This study will help to resolve issues of allelic and genetic heterogeneity for X-linked retinal degenerations and will further our understanding of the biology of degenerative eye diseases.
| Demirci, F Yesim K; Rigatti, Brian W; Mah, Tammy S et al. (2006) A novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa and Coats'-like exudative vasculopathy. Am J Ophthalmol 141:208-10 |
| Demirci, F Yesim K; Gupta, Nisha; Radak, Amy L et al. (2005) Histopathologic study of X-linked cone-rod dystrophy (CORDX1) caused by a mutation in the RPGR exon ORF15. Am J Ophthalmol 139:386-8 |
| Demirci, F Yesim; Ramser, Juliane; White, Nicola J et al. (2003) Refinement of the physical location and the genomic characterization of the CRSP2 (EXLM1) gene on Xp11.4. DNA Seq 14:123-7 |
| Jalkanen, R; Demirci, F Y; Tyynismaa, H et al. (2003) A new genetic locus for X linked progressive cone-rod dystrophy. J Med Genet 40:418-23 |
| Ayyagari, Radha; Demirci, F Yesim; Liu, Jiafan et al. (2002) X-linked recessive atrophic macular degeneration from RPGR mutation. Genomics 80:166-71 |
