ArticleHuman molecular genetics2008
The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells.
Article in Human molecular genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed, 85 citations in OpenAlex.
- A novel GPR143 mutation in a Chinese family with X‑linked ocular albinism type 1.Molecular medicine reports · 2020Trial
- MFF budding from mitochondria regulates melanosome size and maturation.Nature communications · 2026Article
- Pigmentation Pattern of Iris and Fundus in 75 Chinese Families With GPR143-Associated Ocular Albinism.Investigative ophthalmology & visual science · 2025Article
- Specialised features of melanosomes in health and disease in the retinal pigment epithelium.Frontiers in cell and developmental biology · 2025Review
- Article
- Decreased CREB phosphorylation impairs embryonic retinal neurogenesis in thebioRxiv : the preprint server for biology · 2024Article
- Article
- CRISPR-AsCas12a Efficiently Corrects aThe CRISPR journal · 2022Article
- Ophthalmological Manifestations of Oculocutaneous and Ocular Albinism: Current Perspectives.Clinical ophthalmology (Auckland, N.Z.) · 2022Review
- The Many Faces of G Protein-Coupled Receptor 143, an Atypical Intracellular Receptor.Frontiers in molecular biosciences · 2022Review
- Melanosome Biogenesis in the Pigmentation of Mammalian Skin.Integrative and comparative biology · 2021Review
- Evidence for Protein-Protein Interaction between Dopamine Receptors and the G Protein-Coupled Receptor 143.International journal of molecular sciences · 2021Article
- Identification of a novel GPR143 mutation in a large Chinese family with isolated foveal hypoplasia.BMC ophthalmology · 2021Article
- Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.Genes · 2021Article
- A role for Dynlt3 in melanosome movement, distribution, acidity and transfer.Communications biology · 2021Article
- Retinal biomarkers and pharmacological targets for Hermansky-Pudlak syndrome 7.Scientific reports · 2020Article
- Research Techniques Made Simple: Cell Biology Methods for the Analysis of Pigmentation.The Journal of investigative dermatology · 2020Review
- Conversations with Ray Guillery on albinism: linking Siamese cat visual pathway connectivity to mouse retinal development.The European journal of neuroscience · 2019Review
- L-DOPA sensitizes vasomotor tone by modulating the vascular alpha1-adrenergic receptor.JCI insight · 2017Article
- Identification of Novel G Protein-Coupled Receptor 143 Ligands as Pharmacologic Tools for Investigating X-Linked Ocular Albinism.Investigative ophthalmology & visual science · 2017Article
Corrections and comments
- Erratum issued
Authors and funding
17 authors at 5 institutions in 2 countries.
Funding
Abstract
The protein product of the ocular albinism type 1 gene, named OA1, is a pigment cell-specific G protein-coupled receptor exclusively localized to intracellular organelles, namely lysosomes and melanosomes. Loss of OA1 function leads to the formation of macromelanosomes, suggesting that this receptor is implicated in organelle biogenesis, however the mechanism involved in the pathogenesis of the disease remains obscure. We report here the identification of an unexpected abnormality in melanosome distribution both in retinal pigment epithelium (RPE) and skin melanocytes of Oa1-knock-out (KO) mice, consisting in a displacement of the organelles from the central cytoplasm towards the cell periphery. Despite their depletion from the microtubule (MT)-enriched perinuclear region, Oa1-KO melanosomes were able to aggregate at the centrosome upon disruption of the actin cytoskeleton or expression of a dominant-negative construct of myosin Va. Consistently, quantification of organelle transport in living cells revealed that Oa1-KO melanosomes displayed a severe reduction in MT-based motility; however, this defect was rescued to normal following inhibition of actin-dependent capture at the cell periphery. Together, these data point to a defective regulation of organelle transport in the absence of OA1 and imply that the cytoskeleton might represent a downstream effector of this receptor. Furthermore, our results enlighten a novel function for OA1 in pigment cells and suggest that ocular albinism type 1 might result from a different pathogenetic mechanism than previously thought, based on an organelle-autonomous signalling pathway implicated in the regulation of both membrane traffic and transport.
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