Light in retinitis pigmentosa.
Retinitis pigmentosa (RP) is one of the most genetically heterogeneous inherited disorders. Twelve genes have now been identified in the autosomal dominant form of the disease, including some recently characterized genes that show unprecedented and fascinating traits in both their function and in their expression profiles. These include many widely expressed genes encoding components of the spliceosome and a guanine nucleotide synthesis gene. Intriguingly, the most recently identified dominant gene does not appear to be expressed in the neuronal retina but is expressed in the capillaries of the choroid. In attempting to understand the effects of mutations in these genes, investigators are forced to re-evaluate their thinking on the molecular mechanisms of genetic blindness and to undertake an increasingly inter-disciplinary approach in their analysis of this disease. Recently, this has resulted in significant developments in the elucidation of the molecular pathogenesis of RP.
Kennan
Avril
A
The Ocular Genetics Unit, Department of Genetics, Trinity College Dublin, Ireland. akennan@tcd.ie
Aherne
Aileen
A
Humphries
Pete
P
D000818:Animals; D005799:Genes, Dominant; D020022:Genetic Predisposition to Disease; D006147:Guanine / Q000737:chemistry; D006160:Guanosine Triphosphate / Q000737:chemistry; D006801:Humans; D008027:Light; D008954:Models, Biological; D009154:Mutation; D017510:Protein Folding; D012160:Retina / Q000502:physiology; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000502:physiology; D017381:Spliceosomes / Q000378:metabolism; D014785:Vision, Ocular
D006147:Guanine; D006160:Guanosine Triphosphate; D012243:Rhodopsin