ArticleHuman molecular genetics2014
Regulation of a novel isoform of Receptor Expression Enhancing Protein REEP6 in rod photoreceptors by bZIP transcription factor NRL.
Article in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 31 citations in OpenAlex.
- Clinical and genetic characterization of REEP6-associated retinopathy in a Japanese cohort.Japanese journal of ophthalmology · 2026Article
- Murine Retina Outer Plexiform Layer Development and Transcriptome Analysis of Pre-Synapses in Photoreceptors.Life (Basel, Switzerland) · 2024Article
- The Clinical and Biological Effects of Receptor Expression-Enhancing Protein 6 in Tongue Squamous Cell Carcinoma.Biomedicines · 2023Article
- Cwc27, associated with retinal degeneration, functions as a splicing factor in vivo.Human molecular genetics · 2022Article
- Rod genesis driven by mafba in an nrl knockout zebrafish model with altered photoreceptor composition and progressive retinal degeneration.PLoS genetics · 2022Article
- Transcript isoforms of Reep6 have distinct functions in the retina.Human molecular genetics · 2021Article
- Patient derived stem cells for discovery and validation of novel pathogenic variants in inherited retinal disease.Progress in retinal and eye research · 2021Review
- Article
- Knockout of mouse receptor accessory protein 6 leads to sperm function and morphology defects†.Biology of reproduction · 2020Article
- Novel REEP6 gene mutation associated with autosomal recessive retinitis pigmentosa.Documenta ophthalmologica. Advances in ophthalmology · 2020Article
- Cataloguing and Selection of mRNAs Localized to Dendrites in Neurons and Regulated by RNA-Binding Proteins in RNA Granules.Biomolecules · 2020Review
- Generation, transcriptome profiling, and functional validation of cone-rich human retinal organoids.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- Gene Therapy Rescues Retinal Degeneration in Receptor Expression-Enhancing Protein 6 Mutant Mice.Human gene therapy · 2019Article
- Cone-rod homeobox CRX controls presynaptic active zone formation in photoreceptors of mammalian retina.Human molecular genetics · 2018Article
- REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking.Human molecular genetics · 2017Article
- REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival.Human molecular genetics · 2017Article
- Nrl knockdown by AAV-delivered CRISPR/Cas9 prevents retinal degeneration in mice.Nature communications · 2017Article
- Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.American journal of human genetics · 2016Article
- NRL-Regulated Transcriptome Dynamics of Developing Rod Photoreceptors.Cell reports · 2016Article
- A quantitative transcriptomic analysis of the physiological significance of mTOR signaling in goat fetal fibroblasts.BMC genomics · 2016Article
Corrections and comments
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Authors and funding
13 authors at 5 institutions in 3 countries.
Funding
Abstract
The Maf-family leucine zipper transcription factor NRL is essential for rod photoreceptor development and functional maintenance in the mammalian retina. Mutations in NRL are associated with human retinopathies, and loss of Nrl in mice leads to a cone-only retina with the complete absence of rods. Among the highly down-regulated genes in the Nrl(-/-) retina, we identified receptor expression enhancing protein 6 (Reep6), which encodes a member of a family of proteins involved in shaping of membrane tubules and transport of G-protein coupled receptors. Here, we demonstrate the expression of a novel Reep6 isoform (termed Reep6.1) in the retina by exon-specific Taqman assay and rapid analysis of complementary deoxyribonucleic acid (cDNA) ends (5'-RACE). The REEP6.1 protein includes 27 additional amino acids encoded by exon 5 and is specifically expressed in rod photoreceptors of developing and mature retina. Chromatin immunoprecipitation assay identified NRL binding within the Reep6 intron 1. Reporter assays in cultured cells and transfections in retinal explants mapped an intronic enhancer sequence that mediated NRL-directed Reep6.1 expression. We also demonstrate that knockdown of Reep6 in mouse and zebrafish resulted in death of retinal cells. Our studies implicate REEP6.1 as a key functional target of NRL-centered transcriptional regulatory network in rod photoreceptors.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.