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Abstract #18914 Published in IGR 3-1
A sequence change (Arg158Gln) in the leucine zipper-like motif region of the MYOC/TIGR protein
Mabuchi F; Yamagata Z; Kashiwagi K; Ishijima K; Tang S; Iijima H; Tsukahara SJournal of Human Genetics 2001; 46: 85-89
The myocilin/trabecular meshwork-inducible glucocorticoid response (MYOC/TIGR) gene was identified as a gene that caused open-angle glaucoma (OAG). Single-strand conformation polymorphism analysis and subsequent sequence analysis were performed for the MYOC/TIGR gene in 120 unrelated Japanese OAG patients with increased intraocular pressure (IOP), 116 unrelated OAG patients without increased IOP, and 106 unrelated control subjects without glaucoma. An Arg158Gln sequence change in the leucine zipper-like motif (LZM) region in the myosin-homology domain was found in two OAG patients with or without increased IOP, and in a 56-year-old control subject without glaucoma. This is the first report of missense sequence change in the LZM region of the MYOC/TIGR protein in subjects showing various phenotypes, including a control subject. These findings suggest that Arg158Gln in the LZM region is probably a rare nondisease-causing polymorphism, despite its important role in this region, because it was found in a control subject, although Arg158Gln was previously reported as a probable disease-causing mutation.
Dr F. Mabuchi, Department of Health Sciences, Yamanashi Medical University, Shimokato, Japan
Classification:
1.2 Population genetics (Part of: 1 General aspects)
