TINGAUD-SEQUEIRA, Angele; MERCIER, Elina; MICHAUD, Vincent; PINSON, Benoit; GAZOVA, Ivet; GONTIER, Etienne; DECOEUR, Fanny; MCKIE, Lisa; JACKSON, Ian J; ARVEILER, Benoit; JAVERZAT, Sophie

doi:10.3390/genes13071164

TINGAUD-SEQUEIRA, Angele
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]

MERCIER, Elina
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]

MICHAUD, Vincent
CHU de Bordeaux Pellegrin [Bordeaux]
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]

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Article de revue

Ce document a été publié dans

Genes. 2022-06-27, vol. 13, n° 7, p. 1164

Résumé en anglais

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.< Réduire

Mots clés en anglais

Albinism

Oculocutaneous

Animals

Disease Models

Animal

Humans

Intramolecular Oxidoreductases

Levodopa

Melanosomes

Mice

Monophenol Monooxygenase

URI

https://oskar-bordeaux.fr/handle/20.500.12278/170220

DOI

http://dx.doi.org/10.3390/genes13071164

Project ANR

Approches de génétique moléculaire et fonctionnelle pour déchiffrer les mécanismes physiopathologiques de l'albinisme oculocutané. - ANR-21-CE17-0041

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The Mouse Model to Unravel Retinogenesis Misregulation in Patients with Albinism.

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The Mouse Model to Unravel Retinogenesis Misregulation in Patients with Albinism.

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Résumé en anglais

Mots clés en anglais

URI

DOI

Project ANR

Unités de recherche