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Article

Defining the impact of melanopsin missense polymorphisms using in vivo functional rescue.

Human molecular genetics - 1 Aug 2018

Rodgers Jessica, Hughes Steven, Pothecary Carina A, Brown Laurence A, Hickey Doron G, Peirson Stuart N, Hankins Mark W

Abstract excerpt

Melanopsin (OPN4) is an opsin photopigment expressed within intrinsically photosensitive retinal ganglion cells (ipRGCs) that mediate non-image forming (NIF) responses to light. Two single-nucleotide polymorphisms (SNPs) in human melanopsin (hOPN4), Pro10Leu and Thr394Ile, have recently been associated with abnormal NIF responses to light, including seasonal affective disorder. It has been suggested these...

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Source

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Identifiers

PMID: 29718372
DOI: 10.1093/hmg/ddy150
PMCID: PMC6048994

Genes

OPN4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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