RGD Reference Report - Modification of ocular defects in mouse developmental glaucoma models by tyrosinase. - Rat Genome Database

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Modification of ocular defects in mouse developmental glaucoma models by tyrosinase.

Authors: Libby, RT  Smith, RS  Savinova, OV  Zabaleta, A  Martin, JE  Gonzalez, FJ  John, SW 
Citation: Libby RT, etal., Science 2003 Mar 7;299(5612):1578-81.
RGD ID: 734869
Pubmed: PMID:12624268   (View Abstract at PubMed)
DOI: DOI:10.1126/science.1080095   (Journal Full-text)

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 that Cyp1b1-/- mice have ocular drainage structure abnormalities resembling those reported in human PCG patients. Using Cyp1b1-/- 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 mutant Foxc1 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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
buphthalmos  ISOCyp1b1 (Mus musculus)734869; 734869 RGD 
buphthalmos  IMP 734869 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Cyp1b1  (cytochrome P450, family 1, subfamily b, polypeptide 1)

Genes (Mus musculus)
Cyp1b1  (cytochrome P450, family 1, subfamily b, polypeptide 1)

Genes (Homo sapiens)
CYP1B1  (cytochrome P450 family 1 subfamily B member 1)


Additional Information