Regular ArticleA YAC Contig Spanning the Dominant Retinitis Pigmentosa Locus (RP9) on Chromosome 7p
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Defective trafficking of rhodopsin and its role in retinal degenerations
2012, International Review of Cell and Molecular BiologyCitation Excerpt :Other genes resulting in ADRP and ARRP include Rp1, Nrl, Crx, Best1, and Impdh1 (Bessant et al., 1999b; Blanton et al., 1991; Bowne et al., 2002; Davidson et al., 2009; Tzekov et al., 2001). Genes thus far known to be unique to ADRP code for precursor mRNA-processing factors 31, 8, and 3 (PRPF31, PRPF8, PRPF3) and Pim-1-associated protein (RP9), all of which are involved in RNA splicing, topoisomerase I-binding RS protein (TOPORS), a RING domain-containing E3 ubiquitin ligase, the structural proteins peripherin (RDS) and fascin (FSCN2), an activator of T-cell-mediated immunity semaphorin B (SEMA4A) which also serves to guide axons in the developing nervous system, the pH regulating carbonic anhydrase IV (CA4), one of the enzymes composing the spliceosome which unwinds mRNAs to allow for spicing U5 small nuclear ribonucleoprotein 200 kDa helicase (SNRNP200), kelch-like protein 7 (KLHL7), a protein involved with the E3 ubiquitin ligase, and guanylate cyclase activator protein 1B (GCAP1B) which works to restore the dark current of the photoreceptors by increasing the production of cyclic guanidine monophosphate (Blanton et al., 1991; Chakarova et al., 2002, 2007; Friedman et al., 2009; Kajiwara et al., 1991; Keen et al., 1995; Makarova et al., 2002; Martinez-Gimeno et al., 2003; Sato et al., 2005; Schmidt-Kastner et al., 2008; van Lith-Verhoeven et al., 2002; Wada et al., 2001; Yang et al., 2005; Zhao et al., 2009). Animal models for ADRP mutations exist in many species including mouse, rat, fly, pig, and others.
Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele
1997, American Journal of Human GeneticsPrioritization of Retinal Disease Genes: An Integrative Approach
2013, Human Mutation