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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Of mice and men: Tyrosinase modification of congenital glaucoma in mice but not in humans
Investigative Ophthalmology and Visual Science, Volume 47, No. 4, Year 2006
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Description
PURPOSE. Primary congenital glaucoma (PCG) is an autosomal recessive ocular trait caused by mutations in the gene for cytochrome P4501B1 (CYP1B1). Although PCG is often considered to be fully penetrant, the disease shows 50% penetrance in some Saudi Arabian families. The familial segregation of the nonpenetrance suggests a genetic modifier. Recently, tyrosinase (Tyr) deficiency was found to worsen the drainage structure/ocular dysgenesis phenotype of Cyp1b1 -/- mice, suggesting that Tyr is a modifier of the phenotype. In the current study, tyrosinase (TYR) was investigated in human PCG. METHODS. A genome-wide screen, a single nucleotide polymorphism (SNP) analysis in the TYR chromosomal region 11q13-q21, and sequencing of the TYR gene was performed with individuals from Saudi Arabian families with multiple, clinically confirmed, molecularly proven, nonpenetrant members. RESULTS. The study outcome did not support TYR as a modifier of the PCG phenotype in this population. The sequencing data showed no TYR mutations in the nonpenetrant family members and no difference in polymorphism frequencies between nonpenetrant or fully penetrant families. CONCLUSIONS. TYR is not a modifier of the CYP1B1-associated PCG phenotype in the Saudi Arabian population. Copyright © Association for Research in Vision and Ophthalmology.
Authors & Co-Authors
Bidinost, Carla
United States, Spokane
Washington State University Spokane
Hernandez, Natalie
United States, Spokane
Washington State University Spokane
United States, Spokane
Sacred Heart Medical Center
Edward, Deepak P.
United States, Chicago
University of Illinois at Chicago
Al-Rajhi, Ali A.
Saudi Arabia, Riyadh
King Khaled Eye Specialist Hospital
Lewis, R. A.
Saudi Arabia, Riyadh
King Khaled Eye Specialist Hospital
United States, Houston
Baylor College of Medicine
Lupski, James R.
United States, Houston
Baylor College of Medicine
Stockton, David W.
United States, Houston
Baylor College of Medicine
Bejjani, Bassem A.
United States, Spokane
Washington State University Spokane
United States, Spokane
Sacred Heart Medical Center
Statistics
Citations: 8
Authors: 8
Affiliations: 5
Identifiers
Doi:
10.1167/iovs.05-0763
ISSN:
01460404
Research Areas
Genetics And Genomics
Health System And Policy
Study Design
Cross Sectional Study
Participants Gender
Male