Vitiligo is not caused by mutations in GTP-cyclohydrolase I gene
- 1 March 2000
- journal article
- research article
- Published by Oxford University Press (OUP) in Clinical and Experimental Dermatology
- Vol. 25 (2) , 152-153
- https://doi.org/10.1046/j.1365-2230.2000.00599.x
Abstract
GTP-cyclohydrolase I (GTP-CH I) is the initial and rate-limiting enzyme in the synthesis of tetrahydrobiopterin, which regulates melanin biosysthesis. GTP-CH I is therefore a candidate gene for vitiligo. We have carried out DNA sequencing of all six exons and the promoter region of this gene, comprising 1759 base pairs, in 25 nonsyndromic vitiligo patients. However, contrary to an earlier report in which mutations were found in syndromic patients (vitiligo with dopa-responsive dystonia) belonging to two unrelated families, no mutation in the GTP-CH I gene was found.Keywords
This publication has 8 references indexed in Scilit:
- Defective tetrahydrobiopterin and catecholamine biosynthesis in the depigmentation disorder vitiligoPublished by Elsevier ,2003
- Pathophysiology of vitiligoClinics in Dermatology, 1997
- The epidemiology and genetics of vitiligoClinics in Dermatology, 1997
- Mutations in GTP-cyclohydrolase I gene and vitiligoThe Lancet, 1997
- International database of tetrahydrobiopterin deficienciesJournal of Inherited Metabolic Disease, 1995
- Characterization of Mouse and Human GTP Cyclohydrolase I GenesJournal of Biological Chemistry, 1995
- Regulation of Melanin Biosynthesis in the Human Epidermis by TetrahydrobiopterinScience, 1994
- Studies on vitiligo. II. Familial aggregation and geneticsGenetic Epidemiology, 1985