Mutations in the CYP1B1 gene may contribute to juvenile-onset open-angle glaucoma

Eye (Basingstoke)

Volumn 26, Issue 10, 2012, Pages 1369-1377

  Su, C C ^a   Liu, Y F ^b,c   Li, S Y ^b,c   Yang, J J ^b,c   Yen, Y C ^d,e  

^a TIAN SHENG MEMORIAL HOSPITAL   (Taiwan)

^b CHUNG SHAN MEDICAL UNIVERSITY   (Taiwan)

^c CHUNG SHAN MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^d CHI MEI MEDICAL CENTER   (Taiwan)

^e Min Hwei College of Health Care Management   (Taiwan)

Author keywords

CYP1B1; Glaucoma; JOAG; Mutation; Polymorphism

Indexed keywords

CYTOCHROME P450 1B1; GENOMIC DNA;

5' UNTRANSLATED REGION; ARTICLE; CONTROLLED STUDY; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; HYDROGEN BOND; JUVENILE ONSET OPEN ANGLE GLAUCOMA; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OPEN ANGLE GLAUCOMA; POLYMERASE CHAIN REACTION; PROMOTER REGION; TAIWAN;

EID: 84867518057     PISSN: 0950222X     EISSN: 14765454     Source Type: Journal    
DOI: 10.1038/eye.2012.159     Document Type: Article

References (37)

1. Stone EM, Fingert JH, Alward WL, Nguyen TD, Polansky JR, Sunden SL et al. Identification of a gene that causes primary open angle glaucoma. Science 1997; 275: 668-670.
2. Fuse N. Genetic bases for glaucoma. Tohoku J Exp Med 2010; 221: 1-10.
3. Turalba AV, Chen TC. Clinical and genetic characteristics of primary juvenile-onset open-angle glaucoma. Semin Ophthalmol 2008; 23: 19-25.
4. Morissette J, Cote G, Anctil JL, Plante M, Amyot M, Heon E et al. A common gene for juvenile and adult-onset primary open-angle glaucomas confined on chromosome 1q. Am J Hum Genet 1995; 56(6): 1431-1442.
5. Sheffield VC, Stone EM, Alward WL, Drack AV, Johnson AT, Streb LM et al. Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31. Nat Genet 1993; 4: 47-50.
6. Stoilova D, Child A, Brice G, Crick RP, Fleck BW, Sarfarazi M. Identification of a new 'TIGR' mutation in a family with juvenile-onset primary open angle glaucoma. Ophthalmic Genet 1997; 18: 109-118.
7. Gong G, Kosoko-Lasaki O, Haynatzki GR, Wilson MR. Genetic dissection of myocilin glaucoma. Hum Mol Gnent 2004; 13: R91-R102.
8. Choudhary D, Jansson I, Schenkman JB. CYP1B1, a developmental gene with a potential role in glaucoma therapy. Xenobiotica 2009; 39(8): 606-615.
9. Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM, Nebert DW. Comparison of cytochrome P450 (CYP) genes from the mouse and human genomes, including nomenclature recommendations for genes, pseudogenes and alternative-splice variants. Pharmacogenetics 2004; 14: 1-18.
10. Tang YM, Wo YYP, Stewart J, Hawkins AL, Griffin CA, Sutter TR et al. Isolation and characterization of the human cytochrome P450 CYP1B1 gene. J Biol Chem 1996; 271: 28324-28330.
11. Vasiliou V, Gonzalez FJ. Role of CYP1B1 in Glaucoma. Annu Rev Pharmacol Toxicol 2008; 48: 333-358.
12. Muskhelishvili L, Thompson PA, Kusewitt DF, Wang C, Kadlubar FF. In situ hybridization and immunohistochemical analysis of cytochrome P450 1B1 expression in human normal tissues. J Histochem Cytochem 2001; 49: 229-236.
13. Acharya M, Mukhopadhyay A, Bhattacharjee A, Thakur SK, Bandyopadhyay AK, Ray K. Complex genetics of glaucoma: Defects in CYP1B1, and not MYOC, cause pathogenesis in an early-onset POAG patient with double variants at both loci. J Genet 2008; 87(3): 265-269.
14. Vincent AL, Billingsley G, Buys Y, Levin AV, Priston M, Trope G et al. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am J Hum Genet 2002; 70: 448-460.
15. Melki R, Colomb E, Lefort N, Brezin AP, Garchon HJ. CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. J Med Genet 2004; 41: 647-651.
16. Acharya M, Mookherjee S, Bhattacharjee A, Bandyopadhyay AK, Thakur SKD, Bhaduri G et al. Primary role of CYP1B1 in Indian juvenile-onset POAG patients. Mol Vis 2006; 12: 399-404.
17. Lo'pez-Garrido MP, Sa'nchez-Sa'nchez F, Lo'pez-Marti'nez F, Aroca-Aguilar JD, Blanco-Marchite C, Coca-Prados M et al. Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma. Mol Vis 2006; 12: 748-755.
18. Khan AO, Lama Al-Abdi, Mohamed JY, Aldahmesh MA, Alkuraya FS. Familial juvenile glaucoma with underlying homozygoud p.G61E CYP1B1 mutations. J AAPOS 2011; 15: 198-199.
19. Yen YC, Yang JJ, Chou MC, Li SY. Identification of mutations in the myocilin (MYOC) gene in Taiwanese patients with juvenile-onset open-angle glaucoma. Mol Vis 2007; 13: 1627-1634.
20. Yen YC, Yang JJ, Chou MC, Li SY. Absence of OPTINEURIN (OPTN) gene mutations in Taiwanese patients with Juvenile-Onset Open-Angle Glaucoma. Mol Vis 2008; 14: 487-494.
21. Wang A, Savas U, David Stout C, Johnson EF. Structural Characterization of the Complex between a-Naphthoflavone and Human Cytochrome P450 1B1. J Bio Chem 2011; 286: 5736-5743.
22. Arnold K, Bordoli L, Kopp J, Schwede T. The SWISSMODEL workspace: A web-based environment for protein structure homology modelling. Bioinformatics 2006; 22: 195-201.
23. Bordoli L, Kiefer F, Arnold K, Benkert P, Battey J, Schwede T. Protein structure homology modeling using SWISS-MODEL workspace. Nat Protoc 2009; 4: 1-13.
24. Ramensky V, Bork P, Sunyaev S. Human non-synonymous SNPs: Server and survey. Nucleic Acids Res 2002; 30: 3894-3900.
25. Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009; 4: 1073-1081.
26. Heinemeyer T,Wingender E, Reuter I, Hermjakob H, Kel AE, Kel OV et al. Databases on Transcriptional Regulation: TRANSFAC, TRRD, and COMPEL. Nucleic Acids Res 1998; 26: 364-370.
27. Firasat S, Riazuddin SA, Khan SN, Riazuddin S. Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma. Mol Vis 2008; 14: 2002-2009.
28. Yang M, Guo X, Liu X, Shen H, Jia X, Xiao X et al. Investigation of CYP1B1 mutations in Chinese patients with primary congenital glaucoma. Mol Vis 2009; 15: 432-437.
29. Weisschuh N, Wolf C, Wissinger B, Gramer E. A clinical and molecular genetic study of German patients with primary congenital glaucoma. Am J Ophthalmol 2009; 147: 744-753.
30. Campos-Mollo E, Lo'pez-Garrido MP, Blanco-Marchite C, Garcia-Feijoo J, Peralta J, Belmonte-Marti'nez J et al. CYP1B1 mutations in Spanish patients with primary congenital glaucoma: Phenotypic and functional variability. Mol Vis 2009; 15: 417-431.
31. Bejjani BA, Stockton DW, Lewis RA, Tomey KF, Dueker DK, Jabak M et al. Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. Hum Mol Genet 2000; 9: 367-374.
32. Vincent AL, Billingsley G, Buys Y, Levin AV, Priston M, Trope G et al. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am J Hum Genet 2002; 70: 448-460.
33. Stoilov I, Akarsu AN, Alozie I, Child A, Barsoum-Homsy M, Turacli ME et al. 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.
34. Berezin C, Glaser F, Rosenberg J, Paz I, Pupko T, Fariselli P et al. ConSeq: The identification of functionally and structurally important residues in protein sequences. Bioinformatics 2004; 20: 1322-1324.
35. Sasin JM. Bujnicki JM. COLORADO3D, a web server for the visual analysis of protein structures. Nucleic Acids Res 2004; 32: W586-W589.
36. Peitsch MC. About the use of protein models. Bioinformatics 2002; 18: 934-938.
37. Junne T, Schwede T, Goder V, Spiess M. The plug domain of yeast Sec61p is important for efficient protein translocation, but is not essential for cell viability. Mol Biol Cell 2006; 17: 4063-4068.