Mutational screening of CYP1B1 in Turkish PCG families and functional analyses of newly detected mutations

Molecular Vision

Volumn 13, Issue , 2007, Pages 1458-1468

  Bagiyeva, Sefayet ^a,c   Marfany, Gemma ^a,b   Gonzalez Angulo, Olga ^a,b   Gonzalez Duarte, Roser ^a,b  

^a UNIVERSITY OF BARCELONA   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c HACETTEPE UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450 1B1; LUCIFERIN; MYOCILIN;

ALLELE; ARTICLE; CELLULAR DISTRIBUTION; CLINICAL ARTICLE; CONFOCAL MICROSCOPY; CONGENITAL GLAUCOMA; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; ENZYME ACTIVITY; ENZYME ASSAY; FAMILIAL DISEASE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENOTYPE; HAPLOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; MISSENSE MUTATION; MITOCHONDRION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PROTEIN TRANSPORT; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; WILD TYPE;

ALLELES; ANIMALS; ARGININE; ARYL HYDROCARBON HYDROXYLASES; BASE SEQUENCE; CELL LINE; CERCOPITHECUS AETHIOPS; COS CELLS; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; GENOTYPE; GLAUCOMA; GLYCINE; GLYCOPROTEINS; HAPLOTYPES; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MUTATION; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; SUBCELLULAR FRACTIONS; TISSUE DISTRIBUTION; TRYPTOPHAN; TURKEY; VALINE;

EID: 34548309440     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (43)

1. Quigley HA. Number of people with glaucoma worldwide. Br J Ophthalmol 1996; 80:389-93.
2. Quigley HA, Broman AT. The number of people with glaucoma worldwide in 2010 and 2020. Br J Ophthalmol 2006; 90:262-7.
3. Ray K, Mukhopadhyay A, Acharya M. Recent advances in molecular genetics of glaucoma. Mol Cell Biochem 2003; 253:223-31.
4. 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; 275:668-70.
5. Rezaie T, Child A, Hitchings R, Brice G, Miller L, Coca-Prados M, Heon E, Krupin T, Ritch R, Kreutzer D, Crick RP, Sarfarazi M. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science 2002; 295:1077-9.
6. Monemi S, Spaeth G, DaSilva A, Popinchalk S, Ilitchev E, Liebmann J, Ritch R, Heon E, Crick RP, Child A, Sarfarazi M. Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. Hum Mol Genet 2005; 14:725-33.
7. Fan BJ, Wang DY, Lain DS, Pang CP. Gene mapping for primary open angle glaucoma. Clin Biochem 2006; 39:249-58.
8. 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; 41:647-51.
9. Francois J., Congenital glaucoma and its, inheritance. Ophthalmologica 1980; 181:61-73.
10. Jaffar MS. Care of the infantile glaucoma patient. In: Reinecke RD, editor. Ophthalmology Annual. New York: RavenPress; 1988. p.15-37.
11. Sarfarazi M, Akarsu AN, Hossain A, Turacli ME, Aktan SG, Barsoum-Homsy M, Chevrette L, Sayli BS. Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity. Genomics 1995; 30:171-7.
12. Bejjani BA, Stockton DW, Lewis RA, Tomey KF, Ducker DK, Jabak M, Astle WF, Lupski JR. 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; 9:367-74. Erratum in: Hum Mol Genet 2000; 9:1141.
13. Kakiuchi-Matsumoto T, Isashiki Y, Ohba N, Kimura K, Sonoda S, Unoki K. Cytochrome P450 1B1 gene mutations in Japanese patients with primary congenital glaucoma(1). Am J Ophthalmol 2001; 131:345-50.
14. Belmouden A, Melki R, Hamdani M, Zaghloul K, Amraoui A, Nadifi S, Akhayat O, Garchon HJ. A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco. Clin Genet 2002; 62:334-9.
15. Stoilov IR, Costa VP, Vasconcellos JP, Meld MB, Betin AJ Carani JC, Oltrogge EV,'Sarfarazi M. Molecular genetics of primaiy congenital glaucoma in Brazil: Invest Ophthalmol Vis Sci 2002; 43:1820-71
16. Curry SM, Dann AG, Hermanns P, Molinari A, Lewis RA, Bejjani BA. Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador. Ophthalmic Genet 2004; 25:3-9.
17. Akarsu AN, Turacli ME, Aktan SG, Barsoum-Homsy M, Chevrette L, Sayli BS, Sarfarazi M. A second locus (GLC3B) for primary congenital glaucoma (Buphthalmes) maps to the 1p36 region Hum Mol Genet 1996; 5:1199-203.
18. Stoilov IR, Sarfarazi M. The third genetic locus (GLC3C) for primary congenital glaucoma (PCG) maps to chromosome 14q24.3. ARVO Annual Meeting; 2002 May 5-10; Fort Lauderdale (FL).
19. Libby RT, Smith RS, Savinova OV, Zabaleta A, Martin JE, Gonzalez FJ, John SW. Modification of ocular defects in mouse developmental glaucoma models by tyrosinase. Science 2003; 299:1578-81.
20. Vincent A, Billingsley G, Priston M, Williams-Lyn D, Sutherland J, Glaser T, Oliver E, Walter MA, Heathcote G, Levin A, Heon E. Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly. J Med Genet 2001; 38:324-6.
21. Edward D, Al Rajhi A, Lewis RA, Curry S, Wang Z, Bejjani B. Molecular basis of Peters anomaly in Saudi Arabia. Ophthalmic Genet 2004; 25:257-70.
22. Acharya M, Mookherjee S, Bhattachajee A, Bandyopadhyay AK, Daulat Thakur SK, Bhaduri G, Sen A, Ray K. Primary role of CYP1B1 in Indian juvenile-onset POAG patients. Mol Vis 2006; 12:399-404.
23. Sutter TR, Tang YM, Hayes CL, Wo YY, Jabs EW, Li X, Yin H, Cody CW, Greenlee WF. Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2. J Biol Chem 1994; 269:13092-9.
24. Raucy JL, Allen SW. Recent advances in P450 research. Pharmacogenomics J 2001; 1:178-86.
25. Lewis DF, Gillarn EM, Everett SA, Shimada T. Molecular modelling of human CYP1B1 substrate interactions and investigation of allelic variant effects on metabolism. Chem Biol Interact 2003; 145:281-95.
26. Jansson I, Stoilov I, Sarfarazi M, Schenkman JB. Effect of two mutations of human CYP1B1, G61E and R469W, on stability and endogenous steroid substrate metabolism. Pharmacogenetics 2001; 11:793-801.
27. Mammen JS, Pittman GS, Li Y, Abou-Zahr F, Bejani BA, Bell DA, Strickland PT, Sutter TR. Single amino acid mutations, but not common polymorphisms, decrease the activity of CYP1B1 against (-)benzo[a]pyrene-7R-trans-7,8-dihydrodiol. Carcinogenesis 2003; 24:1247-55.
28. Kaur K, Reddy AB, Mukhopadhyay A, Mandal AK, Hasnain SE, Ray K, Thomas R, Balasubramanian D, Chakrubarti S. Myocilin gene implicated in primary congenital glaucoma. Clin Genet 2005; 67:335-40.
29. Chakrabarti S, Kaur K, Komatireddy S, Acharya M, Devi KR, Mukhopadhyay A, Mandal AK, Hasnain SE, Chandrasekhar G, Thomas R, Ray K. Gln48His is the prevalent myocilin mutation in primary open angle and primary congenital glaucoma phenotypes in India. Mol Vis 2005; 11:111-3.
30. Vincent AL, Billingsley G, Buys Y, Levin AV, Priston M, Trope G, Williams-Lyn D, Heon E. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am J Hum Genet 2002; 70:448-60.
31. Chavarria-Soley G, Michels-Rautenstrauss K, Pasutto F, Flikier D, Flikier P, Cirak S, Bejjani B, Winters DL, Lewis RA, Mardin C, Reis A, Rautenstrauss B. Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder-effects for eight distinct CYP1B1 mutations. Mol Vis 2006; 12:523-31.
32. Ng PC, Henikoff S. Accounting for human polymorphisms predicted to affect protein function. Genome Res 2002; 12:436-46.
33. Vincent A, Billingsley G, Priston M, Glaser T, Oliver E, Walter M, Ritch R, Levin A, Heon E. Further support of the role of CYP1B1 in patients with Peters anomaly. Mol Vis 2006; 12:506-10.
34. Stoilov I, Akarsu AN, Sarfarazi M. Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Euphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum Mol Genet 1997; 6:641-7.
35. 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; 62:573-84.
36. Panicker SG, Reddy AB, Mandal AK, Ahmed N, Nagarajaram HA, Hasnain SE, Balasubramanian D. Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees. Invest Ophthalmol Vis Sci 2002; 43:1358-66.
37. Chakrabarti S, Kaur K, Kaur I, Mandal AK, Parikh RS, Thomas R, Majumder PP. Globally, CYP1B1 mutations in primary congenital glaucoma are strongly structured by geographic and haplotype backgrounds. Invest Ophthalmol Vis Sci 2006; 47:43-7.
38. Muskhelishvili L, Thompson PA, Kusewin DF, Wang C, Kadlubar FF. In situ hybridization and immunohistochemical analysis of cytochrome P450 1B1 expression in human normal tissues. J Histochem. Cytochem 2001; 49:229-36.
39. Krone N, Grischuk Y, Muller M, Volk RE, Grotzinger J, Holterhus PM, Sippell WG, Riepe FG. Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia resulting from 11-hydroxylase deficiency. J Clin Endocrinol Metab 2006; 91:2682-8.
40. Stoilov I, Rezaie T, Jansson I, Schenkman JB, Sarfarazi M. Expression of cytochrome P4501b1 (Cyp1b1) during early murine development. Mol Vis 2004; 10:629-36.
41. Bejjanr BA, Xu L, Armstrong D, Lupski JR, Reneker LW. Expression patterns of cytochrome P4501B1 (Cyp1b1) in FVB/N mouse eyes. Exp Eye Res 2002; 75:249-57.
42. Doshi M, Marcus C, Bejjani BA, Edward DR Immunolocalization of CYP1B1 in normal, human, fetal and adult eyes. Exp Eye Res 2006; 82:24-32.
43. den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000;153-12. Erratum in: Hum Mutat.2002; 20:403.