Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of primary open-angle glaucoma

Molecular Vision

Volumn 17, Issue , 2011, Pages 1431-1435

  Chen, Jun ^a   Cai, Su ping ^a   Yu, Wenhan ^a   Yan, Naihong ^a   Tang, Li ^a   Chen, Xiaoming ^a   Liu, Xuyang ^a  

^a SICHUAN UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450 1B1; MYOCILIN;

ADOLESCENT; ADULT; AGED; ARTICLE; CHINESE; CLINICAL ARTICLE; CORNEA DISEASE; CYP1B1 GENE; EXON; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GLAUCOMA; GONIODYSGENESIS; HETEROZYGOSITY; HUMAN; INFANTILE GLAUCOMA; INTRAOCULAR PRESSURE; INTRON; MALE; MYOC GENE; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; VISUAL IMPAIRMENT; VISUAL SYSTEM EXAMINATION;

ADULT; ARYL HYDROCARBON HYDROXYLASES; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CYTOSKELETAL PROTEINS; DATABASES, GENETIC; EXONS; EYE PROTEINS; FEMALE; GLAUCOMA, OPEN-ANGLE; GLYCOPROTEINS; HETEROZYGOTE; HUMANS; INTRAOCULAR PRESSURE; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA; VISUAL FIELDS;

EID: 79959195107     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (32)

1. Quigley HA. Number of people with glaucoma worldwide. Br J Ophthalmol 1996; 80:389-393. [PMID: 8695555]
2. Ikezoe T, Takeuchit S, Komatsu N, Okada M, Fukushima A, Ueno H, Koeffler HP, Taguchi H. Identification of a new GLC1A mutation in a sporadic, primary open-angle glaucoma in Japan. Int J Mol Med 2003; 12:259-261. [PMID: 12851728]
3. Fraser SG. Epidemiology of primary open angle glaucoma. In: Hitchings RA, editors. Glaucoma. London: BMJ Publ Group; 2004. P.9-15.
4. Ellis OH. The etiology, symptomatology and treatment of juvenile glaucoma. Am J Ophthalmol 1948; 31:1589-1596. [PMID: 18122120]
5. Goldwyn R, Waltman SR, Becker B. Primary open-angle glaucoma in adolescents and young adults. Arch Ophthalmol 1970; 84:579-582. [PMID: 5478882]
6. Wilson R, Matrone J. Epidemiology of chronic open angle glaucoma. In: Ritch R, Shields BM, Krupin T, editors. The glaucomas. 2nd ed. St Louis: Mosby; 1996. p. 753-768.
7. Quigley HA. Open-angle glaucoma. N Engl J Med 1993; 328:1097-1106. [PMID: 8455668]
8. Libby RT, Gould DB, Anderson MG, John SW. Complex Genetics of Glaucoma Susceptibility. Annu Rev Genomics Hum Genet 2005; 6:15-44. [PMID: 16124852]
9. Stone EM, Fingert JH, Alward WL, Nguyen TD, Polansky JR, Sunden SL, Nishimura D, Clark AF, Nystuen A, Nichols BE, Mackey DA, Ritch R, Kalenak JW, Craven ER, Sheffield VC. Identification of a gene that causes primary open angle glaucoma. Science 1997; 275:668-670. [PMID: 9005853]
10. http://www.myocilin.com/variants.php (accessed June 19, 2010).
11. Rozsa FW, Shimizu S, Lichter PR, Johnson AT, Othman MI, Scott K, Downs CA, Nguyen TD, Polansky J, Richards JE. GLC1A mutations point to regions of potential functional importance on the TIGR/MYOC protein. Mol Vis 1998; 4:20. [PMID: 9772276]
12. Vincent AL, Billingsley G, Buys Y, Levin AV, Priston M, Trope G, Williams-Lyn D, Héon E. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am J Hum Genet 2002; 70:448-460. [PMID: 11774072]
13. Melki R, Colomb E, Lefort N, Brézin AP, Garchon HJ. CYP1B1 mutations in French patients with early-onset primary openangle glaucoma. J Med Genet 2004; 41:647-651. [PMID: 15342693]
14. López-Garrido MP, Sánchez-Sánchez F, López-Martínez F, Aroca-Aguilar JD, Blanco-Marchite C, Coca-Prados M, Escribano J. Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma. Mol Vis 2006; 12:748-755. [PMID: 16862072]
15. Alward WL, Kwon YH, Khanna CL, Johnson AT, Hayreh SS, Zimmerman MB, Narkiewicz J, Andorf JL, Moore PA, Fingert JH, Sheffield VC, Stone EM. Variations in the myocilin gene in patients with open-angle glaucoma. Arch Ophthalmol 2002; 120:1189-1197. [PMID: 12215093]
16. Fingert JH, Héon E, Liebmann JM, Yamamoto T, Craig JE, Rait J, Kawase K, Hoh ST, Buys YM, Dickinson J, Hockey RR, Donna WL, Trope G, Kitazawa Y, Ritch R, Mackey DA, Alward WL, Sheffield VC, Stoned EM. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet 1999; 8:899-905. [PMID: 10196380]
17. Taniguchi F, Suzuki Y, Shirato S, Araie M. The Gly367Arg mutation in the myocilin gene causes adult-onset primary open-angle glaucoma. Jpn J Ophthalmol 2000; 44:445-448. [PMID: 10974305]
18. Suzuki Y, Shirato S, Taniguchi F, Ohara K, Nishimaki K, Ohta S. Mutations in the TIGR Gene in Familial Primary Open-Angle Glaucoma in Japan. Am J Hum Genet 1997; 61:1202-1204. [PMID: 9345106]
19. Mansergh FC, Kenna PF, Ayuso C, Kiang AS, Humphries P, Farrar GJ. Novel Mutations in the TIGR Gene in Early and Late Onset Open Angle Glaucoma. Hum Mutat 1998; 11:244-251. [PMID: 9521427]
20. Michels-Rautenstrauss KG, Mardin CY, Budde WM, Liehr T, Polansky J, Nguyen T, Timmerman V, Van Broeckhoven C, Naumann GO, Pfeiffer RA, Rautenstrauss BW. Juvenile open angle glaucoma: fine mapping of the TIGR gene to 1q24.3-q25.2 and mutation analysis. Hum Genet 1998; 102:103-106. [PMID: 9490287]
21. Faucher M, Anctil JL, Rodrigue MA, Duchesne A, Bergeron D, Blondeau P, Côté G, Dubois S, Bergeron J, Arseneault R, Morissette J, Raymond V. Founder TIGR/myocilin mutations for glaucoma inthe Québec population. Hum Mol Genet 2002; 11:2077-2090. [PMID: 12189160]
22. Cobb CJ, Scott G, Swingler RJ, Wilson S, Ellis J, MacEwen CJ, McLean WH. Rapid mutation detection by the Transgenomic wave analyser DHPLC identifies MYOC mutations in patients with ocular hypertension and/or open angle glaucoma. Br J Ophthalmol 2002; 86:191-195. [PMID: 11815346]
23. Kanagavalli J, Krishnadas SR, Pandaranayaka E, Krishnaswamy S, Sundaresan P. Evaluation and understanding of myocilin mutations in Indian primary open angle glaucoma patients. Mol Vis 2003; 9:606-614. [PMID: 14627955]
24. Melki R, Belmouden A, Brézin A, Garchon HJ. Myocilin Analysis by DHPLC in French POAG Patients: Increased Prevalence of Q368X Mutation. Hum Mutat 2003; 22:179. [PMID: 12872267]
25. Iliev ME, Bodmer S, Gallati S, Lanz R, Sturmer J, Katsoulis K, Wolf S, Trittibach P, Sarra GM. Glaucoma phenotype in a large Swiss pedigree with the myocilin Gly367Arg mutation. Eye (Lond) 2008; 22:880-888. [PMID: 17304254]
26. Stoilov I, Akarsu AN, Alozie I, Child A, Barsoum-Homsy M, Turacli ME, Or M, Lewis RA, Ozdemir N, Brice G, Aktan SG, Chevrette L, Coca-Prados M, Sarfarazi M. Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1. Am J Hum Genet 1998; 62:573-584. [PMID: 9497261]
27. Bagiyeva S, Marfany G, Gonzalez-Angulo O, Gonzalez-Duarte R. Mutational screening of CYP1B1 in Turkish PCG families and functional analyses of newly detected mutations. Mol Vis 2007; 13:1458-1468. [PMID: 17893647]
28. Tamm ER. Myocilin and glaucoma: facts and ideas. Prog Retin Eye Res 2002; 21:395-428. [PMID: 12150989]
29. Jacobson N, Andrews M, Shepard AR, Nishimura D, Searby C, Fingert JH, Hageman G, Mullins R, Davidson BL, Kwon YH, Alward WL, Stone EM, Clark AF, Sheffield VC. Nonsecretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor. Hum Mol Genet 2001; 10:117-125. [PMID: 11152659]
30. Joe MK, Sohn S, Hur W, Moon Y, Choi YR, Kee C. Accumulation of mutant myocilins in ER leads to ER stress and potential cytotoxicity in human trabecular meshwork cells. Biochem Biophys Res Commun 2003; 312:592-600. [PMID: 14680806]
31. Liu Y, Vollrath D. Reversal of mutant myocilin non-secretion and cell killing: implications for glaucoma. Hum Mol Genet 2004; 13:1193-1204. [PMID: 15069026]
32. Kanagavalli J, Pandaranayaka PJ, Krishnadas SR, Krishnaswamy S, Sundaresan P. In vitro and in vivo study on the secretion of the Gly367Arg mutant myocilin protein. Mol Vis 2007; 13:1161-1168. [PMID: 17679945]