Based on linkage data from the CEPH (Paris) reference families and physical mapping information from a somatic cell hybrid panel of chromosome 8 fragments, the most likely order for four of these five loci and the diseases locus is 8pter-LPL-D8S5-D8S87-PLAT-RP1.
The two known loci for ADCA type I (spinal cerebellar ataxia 1 and 2) were excluded, as were candidate loci, retinitis pigmentosa 1 locus (RP1) and the genes for rhodopsin and peripherin-rds, responsible for autosomal dominant retinitis pigmentosa.
The two known loci for ADCA type I (spinal cerebellar ataxia 1 and 2) were excluded, as were candidate loci, retinitis pigmentosa 1 locus (RP1) and the genes for rhodopsin and peripherin-rds, responsible for autosomal dominant retinitis pigmentosa.
Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene.
Since mutations in the RP1 gene cause autosomal dominant retinitis pigmentosa, it is possible that mutations in RP1's most sequence similar relative, RP1L1, may also be a cause of inherited retinal degeneration.