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The Mouse Model to Unravel Retinogenesis Misregulation in Patients with Albinism.
| dc.rights.license | open | en_US |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | TINGAUD-SEQUEIRA, Angele | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | MERCIER, Elina | |
| hal.structure.identifier | CHU de Bordeaux Pellegrin [Bordeaux] | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | MICHAUD, Vincent | |
| hal.structure.identifier | Institut de biochimie et génétique cellulaires [IBGC] | |
| hal.structure.identifier | TBM-Core [Bordeaux] [UMS3427 - INSERM US005] | |
| dc.contributor.author | PINSON, Benoit | |
| dc.contributor.author | GAZOVA, Ivet | |
| hal.structure.identifier | Bordeaux Imaging Center [BIC] | |
| dc.contributor.author | GONTIER, Etienne | |
| hal.structure.identifier | Bordeaux Imaging Center [BIC] | |
| hal.structure.identifier | Nutrition et Neurobiologie intégrée [NutriNeuro] | |
| dc.contributor.author | DECOEUR, Fanny | |
| hal.structure.identifier | University of Edinburgh [Edin.] | |
| dc.contributor.author | MCKIE, Lisa | |
| dc.contributor.author | JACKSON, Ian J | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | ARVEILER, Benoit | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | JAVERZAT, Sophie
IDREF: 123786355 | |
| dc.date.accessioned | 2022-11-08T08:58:49Z | |
| dc.date.available | 2022-11-08T08:58:49Z | |
| dc.date.issued | 2022-06-27 | |
| dc.identifier.issn | 2073-4425 | en_US |
| dc.identifier.uri | https://oskar-bordeaux.fr/handle/20.500.12278/170220 | |
| dc.description.abstractEn | We have recently identified encoding dopachrome tautomerase (DCT) as the eighth gene for oculocutaneous albinism (OCA). Patients with loss of function of suffer from eye hypopigmentation and retinal dystrophy. Here we investigate the eye phenotype in mice. We show that their retinal pigmented epithelium (RPE) is severely hypopigmented from early stages, contrasting with the darker melanocytic tissues. Multimodal imaging reveals specific RPE cellular defects. Melanosomes are fewer with correct subcellular localization but disrupted melanization. RPE cell size is globally increased and heterogeneous. P-cadherin labeling of newborn RPE reveals a defect in adherens junctions similar to what has been described in tyrosinase-deficient embryos. The first intermediate of melanin biosynthesis, dihydroxyphenylalanine (L-Dopa), which is thought to control retinogenesis, is detected in substantial yet significantly reduced amounts in postnatal mouse eyecups. L-Dopa synthesis in the RPE alone remains to be evaluated during the critical period of retinogenesis. The mouse should prove useful in understanding the molecular regulation of retinal development and aging of the hypopigmented eye. This may guide therapeutic strategies to prevent vision deficits in patients with albinism. | |
| dc.description.sponsorship | Approches de génétique moléculaire et fonctionnelle pour déchiffrer les mécanismes physiopathologiques de l'albinisme oculocutané. - ANR-21-CE17-0041 | en_US |
| dc.language.iso | EN | en_US |
| dc.rights | Attribution 3.0 United States | * |
| dc.rights.uri | http://creativecommons.org/licenses/by/3.0/us/ | * |
| dc.subject.en | Albinism | |
| dc.subject.en | Albinism | |
| dc.subject.en | Oculocutaneous | |
| dc.subject.en | Animals | |
| dc.subject.en | Disease Models | |
| dc.subject.en | Animal | |
| dc.subject.en | Humans | |
| dc.subject.en | Intramolecular Oxidoreductases | |
| dc.subject.en | Levodopa | |
| dc.subject.en | Melanosomes | |
| dc.subject.en | Mice | |
| dc.subject.en | Monophenol Monooxygenase | |
| dc.title.en | The Mouse Model to Unravel Retinogenesis Misregulation in Patients with Albinism. | |
| dc.title.alternative | Genes (Basel) | en_US |
| dc.type | Article de revue | en_US |
| dc.identifier.doi | 10.3390/genes13071164 | en_US |
| dc.subject.hal | Sciences du Vivant [q-bio]/Génétique | en_US |
| dc.identifier.pubmed | 35885947 | en_US |
| bordeaux.journal | Genes | en_US |
| bordeaux.page | 1164 | en_US |
| bordeaux.volume | 13 | en_US |
| bordeaux.hal.laboratories | Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 | en_US |
| bordeaux.issue | 7 | en_US |
| bordeaux.institution | Université de Bordeaux | en_US |
| bordeaux.institution | INSERM | en_US |
| bordeaux.institution | INRAE | |
| bordeaux.peerReviewed | oui | en_US |
| bordeaux.inpress | non | en_US |
| bordeaux.import.source | pubmed | |
| hal.export | false | |
| workflow.import.source | pubmed | |
| dc.rights.cc | CC BY | en_US |
| bordeaux.COinS | ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Genes&rft.date=2022-06-27&rft.volume=13&rft.issue=7&rft.spage=1164&rft.epage=1164&rft.eissn=2073-4425&rft.issn=2073-4425&rft.au=TINGAUD-SEQUEIRA,%20Angele&MERCIER,%20Elina&MICHAUD,%20Vincent&PINSON,%20Benoit&GAZOVA,%20Ivet&rft.genre=article |
