The Dct^-/- Mouse Model to Unravel Retinogenesis Misregulation in Patients with Albinism.

ABSTRACT: We have recently identified DCT encoding dopachrome tautomerase (DCT) as the eighth gene for oculocutaneous albinism (OCA). Patients with loss of function of DCT suffer from eye hypopigmentation and retinal dystrophy. Here we investigate the eye phenotype in Dct^-/- 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 Dct^-/- newborn RPE reveals a defect in adherens junctions similar to what has been described in tyrosinase

SUBMITTER: Tingaud-Sequeira A 

PROVIDER: S-EPMC9324463 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature