PURPOSE: Pigmentary glaucoma is a common form of glaucoma affecting young adults. Previous studies have suggested that multiple factors, including multiple genetic factors, may be responsible for this condition. Recently, a form of glaucoma associated with pigment dispersion and iris atrophy was identified in the DBA/2J mouse. Abnormalities in the mouse Tyrp1 gene contribute to this condition. The purpose of this study was to determine if DNA sequence variants in the human TYRP1 gene are associated with pigmentary glaucoma in humans. METHODS: The protein coding regions and intron/exon boundaries of the human TYRP1 gene were sequenced using genomic DNA samples from probands from pedigrees affected by pigment dispersion syndrome and pigmentary glaucoma. RESULTS: Three novel synonymous single nucleotide polymorphisms (SNPs) were found in two affected individuals. However, these polymorphisms did not define a haplotype that segregated with the disease in the families. DNA sequence variants that altered the amino acid sequence of TYRP1 were not found. CONCLUSIONS: Despite the phenotypic similarity between the glaucoma in the DBA/2J mouse and human pigmentary glaucoma, the results of this study suggest that DNA sequence variants in the human TYRP1 gene are not associated with inherited pigmentary glaucoma in humans.
PURPOSE:Pigmentary glaucoma is a common form of glaucoma affecting young adults. Previous studies have suggested that multiple factors, including multiple genetic factors, may be responsible for this condition. Recently, a form of glaucoma associated with pigment dispersion and iris atrophy was identified in the DBA/2J mouse. Abnormalities in the mouseTyrp1 gene contribute to this condition. The purpose of this study was to determine if DNA sequence variants in the humanTYRP1 gene are associated with pigmentary glaucoma in humans. METHODS: The protein coding regions and intron/exon boundaries of the humanTYRP1 gene were sequenced using genomic DNA samples from probands from pedigrees affected by pigment dispersion syndrome and pigmentary glaucoma. RESULTS: Three novel synonymous single nucleotide polymorphisms (SNPs) were found in two affected individuals. However, these polymorphisms did not define a haplotype that segregated with the disease in the families. DNA sequence variants that altered the amino acid sequence of TYRP1 were not found. CONCLUSIONS: Despite the phenotypic similarity between the glaucoma in the DBA/2J mouse and humanpigmentary glaucoma, the results of this study suggest that DNA sequence variants in the humanTYRP1 gene are not associated with inherited pigmentary glaucoma in humans.
Authors: Colleen M Trantow; Tryphena L Cuffy; John H Fingert; Markus H Kuehn; Michael G Anderson Journal: Invest Ophthalmol Vis Sci Date: 2011-01-05 Impact factor: 4.799
Authors: Michael G Anderson; Norman L Hawes; Colleen M Trantow; Bo Chang; Simon W M John Journal: Pigment Cell Melanoma Res Date: 2007-06-28 Impact factor: 4.693
Authors: Shankar Swaminathan; Hong Lu; Robert W Williams; Lu Lu; Monica M Jablonski Journal: Pigment Cell Melanoma Res Date: 2013-05-13 Impact factor: 4.693