Regular articleLinkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8
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Inherited retinal diseases: Linking genes, disease-causing variants, and relevant therapeutic modalities
2022, Progress in Retinal and Eye ResearchCitation Excerpt :However, following the report of the AR null variant, two other nonsense variants (Kartasasmita et al., 2011; Zhang et al., 2016) and two missense variants: c.448G>A (p.E150K) by (Kumaramanickavel et al., 1994; Saqib et al., 2015) and c.759G>T (p.M253I) by (van Huet et al., 2015) were also associated with ARRP with a yet-to-be-identified disease mechanism (Fig. 5). The first RP locus to be reported as linked to a gene was RP1, which was initially localized to chromosome 1 using red blood cell markers (Spence et al., 1977), but its localization has been later corrected to 8q11-13 (Blanton et al., 1991). Subsequent linkage analysis and screening for pathogenic variants revealed the identification of an RP1 null variant in ∼3% of ADRP cases in North America (Pierce et al., 1999; Sullivan et al., 1999).
Microglial Function Is Distinct in Different Anatomical Locations during Retinal Homeostasis and Degeneration
2019, ImmunityCitation Excerpt :Trajectory analysis revealed this involves downregulation of homeostatic genes, like Tmem119, P2ry12, Siglech, Hexb, Selplg, Sparc, and Sall1, and upregulation of neurodegeneration-linked genes, like Lgals3, Lpl, Cd68, Fabp5, Lilr4b, Apoe, Trem2, Cstb, and Sqstm1. Polymorphisms in several of the latter genes (e.g., Apoe, Sqstm1, and Lpl) have been linked with retina-degenerative diseases (Blanton et al., 1991; Hoffman et al., 1989; McKay et al., 2011; Scheetz et al., 2016; Wang et al., 2015b). Likewise, some genes have been implicated in brain and spinal cord neurodegenerations (Chiu et al., 2013; Fritsche et al., 2016; Holtman et al., 2015; Keren-Shaul et al., 2017; Krasemann et al., 2017).
Unravelling the genetics of inherited retinal dystrophies: Past, present and future
2017, Progress in Retinal and Eye ResearchCitation Excerpt :Since then there have been multiple mutations described in this gene. At around the same time another locus for adRP was described in a large seven generation family with linkage to the pericentric region of chromosome 8 (Blanton et al., 1991). This report further confirmed the genetic heterogeneity in autosomal dominant RP.
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.
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