ArticleCellular and molecular life sciences : CMLS2018
Functional characterisation of naturally occurring mutations in human melanopsin.
Article in Cellular and molecular life sciences : CMLS, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.
- Human melanopsin (OPN4) gene polymorphisms: a systematic review.Frontiers in neuroscience · 2025Pooled it
- Melanopsin gene polymorphism and volumetric change in the left hippocampal dentate gyrus following light therapy in mood disorders: An exploratory study.Frontiers in psychiatry · 2026Article
- Optogenetic Vision Restoration.Cold Spring Harbor perspectives in medicine · 2024Review
- Human-Centric Lighting Research and Policy in the Melanopsin Age.Policy insights from the behavioral and brain sciences · 2023Article
- Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer's disease and longevity in an Italian population.GeroScience · 2022Article
- Review
- Case report: A novel missense variant in melanopsin associates with delayed sleep phenotype: Whole genome sequencing study.Frontiers in genetics · 2022Article
- Optical Switching Between Long-lived States of Opsin Transmembrane Voltage Sensors.Photochemistry and photobiology · 2021Article
- Review
- Diversity of intrinsically photosensitive retinal ganglion cells: circuits and functions.Cellular and molecular life sciences : CMLS · 2021Review
- Association of P10L Polymorphism in Melanopsin Gene with Chronic Insomnia in Mexicans.International journal of environmental research and public health · 2021Article
- Lamprey Parapinopsin ("UVLamP"): a Bistable UV-Sensitive Optogenetic Switch for Ultrafast Control of GPCR Pathways.Chembiochem : a European journal of chemical biology · 2020Article
- The Efemp1R345W Macular Dystrophy Mutation Causes Amplified Circadian and Photophobic Responses to Light in Mice.Investigative ophthalmology & visual science · 2019Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Melanopsin is a blue light-sensitive opsin photopigment involved in a range of non-image forming behaviours, including circadian photoentrainment and the pupil light response. Many naturally occurring genetic variants exist within the human melanopsin gene (OPN4), yet it remains unclear how these variants affect melanopsin protein function and downstream physiological responses to light. Here, we have used bioinformatic analysis and in vitro expression systems to determine the functional phenotypes of missense human OPN4 variants. From 1242 human OPN4 variants collated in the NCBI Short Genetic Variation database (dbSNP), we identified 96 that lead to non-synonymous amino acid substitutions. These 96 missense mutations were screened using sequence alignment and comparative approaches to select 16 potentially deleterious variants for functional characterisation using calcium imaging of melanopsin-driven light responses in HEK293T cells. We identify several previously uncharacterised OPN4 mutations with altered functional properties, including attenuated or abolished light responses, as well as variants demonstrating abnormal response kinetics. These data provide valuable insight into the structure-function relationships of human melanopsin, including several key functional residues of the melanopsin protein. The identification of melanopsin variants with significantly altered function may serve to detect individuals with disrupted melanopsin-based light perception, and potentially highlight those at increased risk of sleep disturbance, circadian dysfunction, and visual abnormalities.
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Registered trials
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