Report

Modification of Ocular Defects in Mouse Developmental Glaucoma Models by Tyrosinase

Science  07 Mar 2003:
Vol. 299, Issue 5612, pp. 1578-1581
DOI: 10.1126/science.1080095

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Abstract

Mutations in the cytochrome P450 family 1, subfamily B, polypeptide 1 (CYP1B1) gene are a common cause of human primary congenital glaucoma (PCG). Here we show thatCyp1b1 –/– mice have ocular drainage structure abnormalities resembling those reported in human PCG patients. UsingCyp1b1 –/– mice, we identified the tyrosinase gene (Tyr) as a modifier of the drainage structure phenotype, with Tyr deficiency increasing the magnitude of dysgenesis. The severe dysgenesis in eyes lacking both CYP1B1 and TYR was alleviated by administration of the tyrosinase product dihydroxyphenylalanine (l-dopa). Tyr also modified the drainage structure dysgenesis in mice with a mutantFoxc1 gene, which is also involved in PCG. These experiments raise the possibility that a tyrosinase/l-dopa pathway modifies human PCG, which could open new therapeutic avenues.

  • * These authors contributed equally to this work.

  • To whom correspondence should be addressed. E-mail: swmj{at}jax.org

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