TYROSINASE-Deficient Human Retinal Pigment Epithelium Exhibits Melanosome Maturation Defects.

ABSTRACT:

Purpose

Oculocutaneous albinism type 1A (OCA1A) is a rare recessive genetic condition caused by mutations in TYROSINASE (TYR) that results in pigmentation defects of the skin, hair and eyes. This study was performed to understand melanosome biogenesis and maturation defects in an OCA1A in vitro model using retinal pigment epithelium (RPE) derived from TYR knockout human induced pluripotent stem cells (iPSC).

Methods

CRISPR-Cas9 was used to knockout the TYR gene in iPSC to generate an isogenic pair. A developmentally guided protocol was used to differentiate the isogenic iPSC pair towards RPE monolayer tissue. Monolayer organization, melanosome formation and maturation were studied using electron microscopy. Loss of TYR protein was studied using Western blot and immuno-fluore

SUBMITTER: George A 

PROVIDER: S-EPMC12510380 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature