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In humans and several other mammalian species, <jats:italic>OCA2<\/jats:italic> is transcribed into two coding mRNAs, a major transcript that encodes the full-length protein and a minor transcript that skips in-frame exon 10 and has no identified function. By contrast, rodents and non-mammalian vertebrates only express the major transcript. Several rare variants of human <jats:italic>OCA2<\/jats:italic> have been reported to be pathogenic due to increased exon 10 skipping. To understand the vulnerability of human <jats:italic>OCA2<\/jats:italic> to exon 10 skipping and its impact on pigmentation, we first functionally tested a series of rare missense variants spread across exon 10. We found that each variant significantly influences the skipping ratio either positively or negatively. By combining human and murine sequences in functional assays, we found that the skipping ratio depends on particular exonic and intronic combinations. Next, we focused on the most frequent exonic single nucleotide variant of human <jats:italic>OCA2<\/jats:italic>, rs1800404-T (c.1065G\u2009&gt;\u2009A\/p.Ala355=), located in exon 10. We show that this variant significantly promotes exon 10 skipping on its own and exhibits an additive effect in <jats:italic><jats:italic>cis<\/jats:italic><\/jats:italic> to previously identified splicing variants likely contributing to their pathogenicity. Association studies reveal that rs1800404-T is tightly associated with lighter skin and hair pigmentation in a representative European population, as has been observed in other populations around the world. Our structural models of the skipped transcript-derived protein support causality by predicting that it could exert a dominant-negative effect, which is consistent with a dose-dependent hypopigmentation response in both pathological and physiological contexts. Overall, the modulation of <jats:italic>OCA2<\/jats:italic> exon 10 skipping by both benign and pathogenic variants provides a basis for improving the genetic diagnosis of albinism, and paves the way for research into the molecular and evolutionary mechanisms behind human pigmentation diversity.<\/jats:p>","DOI":"10.1371\/journal.pgen.1011801","type":"journal-article","created":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T17:22:07Z","timestamp":1758820927000},"page":"e1011801","update-policy":"https:\/\/doi.org\/10.1371\/journal.pgen.corrections_policy","source":"Crossref","is-referenced-by-count":2,"title":["From paleness to albinism: Contribution of OCA2 exon 10 skipping to hypopigmentation"],"prefix":"10.1371","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-8663-2710","authenticated-orcid":true,"given":"Elina","family":"Mercier","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9084-7800","authenticated-orcid":true,"given":"David-Alexandre","family":"Tr\u00e9gou\u00ebt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0094-4760","authenticated-orcid":true,"given":"S\u00e9bastien","family":"Campagne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5788-392X","authenticated-orcid":true,"given":"Vincent","family":"Michaud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J.","family":"Green","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-8328-5972","authenticated-orcid":true,"given":"Shahram","family":"Mesdaghi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orane","family":"Le Gallais","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-4016-6312","authenticated-orcid":true,"given":"Orph\u00e9e","family":"Jouannigot-Castano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel J.","family":"Rigden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4123-8915","authenticated-orcid":true,"given":"Catherine","family":"Estay-Ahumada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Hicks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Panagiotis I.","family":"Sergouniotis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benoit","family":"Arveiler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3497-0542","authenticated-orcid":true,"given":"Sophie","family":"Javerzat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2025,9,25]]},"reference":[{"key":"pgen.1011801.ref001","doi-asserted-by":"crossref","first-page":"101091","DOI":"10.1016\/j.preteyeres.2022.101091","article-title":"The retinal pigmentation pathway in human albinism: Not so black and white","volume":"91","author":"R Bakker","year":"2022","journal-title":"Prog Retin Eye Res"},{"issue":"12","key":"pgen.1011801.ref002","doi-asserted-by":"crossref","first-page":"1953","DOI":"10.1016\/j.ophtha.2018.08.003","article-title":"The phenotypic spectrum of albinism","volume":"125","author":"CC Kruijt","year":"2018","journal-title":"Ophthalmology"},{"key":"pgen.1011801.ref003","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/j.fsigen.2018.04.004","article-title":"The HIrisPlex-S system for eye, hair and skin colour prediction from DNA: Introduction and forensic developmental validation","volume":"35","author":"L Chaitanya","year":"2018","journal-title":"Forensic Sci Int Genet"},{"issue":"7","key":"pgen.1011801.ref004","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1007\/s00439-017-1808-5","article-title":"Global skin colour prediction from DNA","volume":"136","author":"S Walsh","year":"2017","journal-title":"Hum Genet"},{"issue":"2","key":"pgen.1011801.ref005","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1111\/pcmr.12210","article-title":"Genetic variation in regulatory DNA elements: the case of OCA2 transcriptional regulation","volume":"27","author":"M Visser","year":"2014","journal-title":"Pigment Cell Melanoma Res"},{"key":"pgen.1011801.ref006","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.04543","article-title":"An intracellular anion channel critical for pigmentation. 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