A sequence change (Arg158Gln) in the leucine zipper-like motif region of the MYOC/TIGR protein.
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 2 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.
Department of Health Sciences, Yamanashi Medical University, Shimokato, Japan.
F
F
Mabuchi
Z
Z
Yamagata
K
K
Kashiwagi
K
K
Ishijima
S
S
Tang
H
H
Iijima
S
S
Tsukahara
D000328:Adult; D000368:Aged; D020816:Amino Acid Motifs; D019943:Amino Acid Substitution; D001120:Arginine / Q000737:chemistry*; D003598:Cytoskeletal Proteins; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005838:Genotype; D005902:Glaucoma, Open-Angle / Q000235:genetics; D005998:Glycine / Q000737:chemistry*; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D016350:Leucine Zippers; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D000099179:Myocilin
D001120:Arginine; D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D005998:Glycine; D006023:Glycoproteins; D000099179:Myocilin