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Titolo:
A sequence change (Arg158Gln) in the leucine zipper-like motif region of the MYOC/TIGR protein
Autore:
Mabuchi, F; Yamagata, Z; Kashiwagi, K; Ishijima, K; Tang, S; Iijima, H; Tsukahara, S;
Indirizzi:
Yamanashi Med Univ, Dept Hlth Sci, Tamaho, Yamanashi 4093898, Japan Yamanashi Med Univ Tamaho Yamanashi Japan 4093898 amanashi 4093898, Japan Yamanashi Med Univ, Dept Ophthalmol, Yamanashi, Japan Yamanashi Med Univ Yamanashi Japan v, Dept Ophthalmol, Yamanashi, Japan Uenohara City Hosp, Dept Ophthalmol, Yamanashi, Japan Uenohara City Hosp Yamanashi Japan p, Dept Ophthalmol, Yamanashi, Japan
Titolo Testata:
JOURNAL OF HUMAN GENETICS
fascicolo: 2, volume: 46, anno: 2001,
pagine: 85 - 89
SICI:
1434-5161(2001)46:2<85:ASC(IT>2.0.ZU;2-D
Fonte:
ISI
Lingua:
ENG
Soggetto:
OPEN-ANGLE GLAUCOMA; TIGR GENE; MUTATIONS; FAMILIES; IDENTIFICATION;
Keywords:
the MYOC/TIGR gene; GLCIA; open angle glaucoma; Japanese; Arg158Gln; leucine zipper-like motif;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
29
Recensione:
Indirizzi per estratti:
Indirizzo: Yamagata, Z Yamanashi Med Univ, Dept Hlth Sci, 1110 Shimokato, Tamaho, Yamanashi 4093898, Japan Yamanashi Med Univ 1110 Shimokato Tamaho Yamanashi Japan 4093898
Citazione:
F. Mabuchi et al., "A sequence change (Arg158Gln) in the leucine zipper-like motif region of the MYOC/TIGR protein", J HUM GENET, 46(2), 2001, pp. 85-89

Abstract

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.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/04/20 alle ore 02:57:41