ArticleScientific reports2015
SPP2 Mutations Cause Autosomal Dominant Retinitis Pigmentosa.
Article in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 26 citations in OpenAlex.
- Severe bilateral retinal degeneration following a twenty-six-year pentosan polysulfate sodium exposure: a case report.American journal of ophthalmology case reports · 2026Article
- Multi-omics analysis of the mechanism of alfalfa and wheat-induced rumen flatulence in Xizang sheep.Microbiology spectrum · 2025Article
- Absence of CEP78 causes photoreceptor and sperm flagella impairments in mice and a human individual.eLife · 2023Article
- Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants.Human genetics · 2022Article
- Genetic dissection of non-syndromic retinitis pigmentosa.Indian journal of ophthalmology · 2022Review
- Circular Noncoding RNA NR3C1 Acts as a miR-382-5p Sponge to Protect RPE Functions via Regulating PTEN/AKT/mTOR Signaling Pathway.Molecular therapy : the journal of the American Society of Gene Therapy · 2020Article
- Functional Genomics of the Retina to Elucidate its Construction and Deconstruction.International journal of molecular sciences · 2019Review
- Development and Genome Sequencing of a Laboratory-Inbred Miniature Pig Facilitates Study of Human Diabetic Disease.iScience · 2019Article
- Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees.Journal of translational medicine · 2018Article
- c-Jun-mediated microRNA-302d-3p induces RPE dedifferentiation by targeting p21Cell death & disease · 2018Article
- LncRNA ZNF503-AS1 promotes RPE differentiation by downregulating ZNF503 expression.Cell death & disease · 2017Article
- Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.3 Biotech · 2017Review
- GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- High prevalence of mutations affecting the splicing process in a Spanish cohort with autosomal dominant retinitis pigmentosa.Scientific reports · 2017Article
- MicroRNA-184 promotes differentiation of the retinal pigment epithelium by targeting the AKT2/mTOR signaling pathway.Oncotarget · 2016Article
- Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.Molecular vision · 2016Article
- Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases.Molecular vision · 2016Article
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Authors and funding
13 authors at 8 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Retinitis pigmentosa (RP) shows progressive loss of photoreceptors involved with heterogeneous genetic background. Here, by exome sequencing and linkage analysis on a Chinese family with autosomal dominant RP, we identified a putative pathogenic variant, p.Gly97Arg, in the gene SPP2, of which expression was detected in multiple tissues including retina. The p.Gly97Arg was absent in 800 ethnically matched chromosomes and 1400 in-house exome dataset, and was located in the first of the two highly conserved disulfide bonded loop of secreted phosphoprotein 2 (Spp-24) encoded by SPP2. Overexpression of p.Gly97Arg and another signal peptide mutation, p.Gly29Asp, caused cellular retention of both endogenous wild type and exogenous mutants in vitro, and primarily affected rod photoreceptors in zebrafish mimicking cardinal feature of RP. Taken together, our data indicate that the two mutations of SPP2 have dominant negative effects and cellular accumulation of Spp-24 might be particularly toxic to photoreceptors and/or retinal pigment epithelium. SPP2 has a new role in retinal degeneration.
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