Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma

Pharmacogenetics and Genomics

Volumn 18, Issue 8, 2008, Pages 665-676

  Choudhary, Dharamainder ^a   Jansson, Ingela ^a   Sarfarazi, Mansoor ^a   Schenkman, John B ^a  

^a UNIVERSITY OF CONNECTICUT HEALTH CENTER   (United States)

Author keywords

CYP1B1 mutants; CYP1B1 structure activity; Primary congenital glaucoma

Indexed keywords

ALANINE; ARACHIDONIC ACID; ARGININE; ASPARAGINE; COMPLEMENTARY DNA; CYTOCHROME P450 1B1; ESTRADIOL; GLUTAMIC ACID; HEMOPROTEIN; HISTIDINE; LYSINE; PHENYLALANINE; RETINOID; TYROSINE; CYP1B1 PROTEIN, HUMAN; CYTOCHROME P450; MUTANT PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; BIOCHEMISTRY; COMPUTER MODEL; CONGENITAL GLAUCOMA; CRYSTAL STRUCTURE; ENZYME ACTIVE SITE; ENZYME ACTIVITY; ENZYME SUBSTRATE; ENZYME SUBSTRATE COMPLEX; GENE MUTATION; HETEROLOGOUS EXPRESSION; HORMONE METABOLISM; HUMAN; MOLECULE; MUTANT; PHENOTYPE; PRIMARY CONGENITAL GLAUCOMA; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN METABOLISM; PROTEIN STABILITY; PROTEIN STRUCTURE; AMINO ACID SEQUENCE; CHEMICAL STRUCTURE; CHEMISTRY; ENZYME STABILITY; ESCHERICHIA COLI; GENETICS; GLAUCOMA; METABOLISM; MOLECULAR GENETICS; MUTATION; POLYACRYLAMIDE GEL ELECTROPHORESIS; PROTEIN SECONDARY STRUCTURE;

AMINO ACID SEQUENCE; ARACHIDONIC ACID; CYTOCHROME P-450 ENZYME SYSTEM; ELECTROPHORESIS, POLYACRYLAMIDE GEL; ENZYME STABILITY; ESCHERICHIA COLI; ESTRADIOL; GLAUCOMA; HUMANS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION; PHENOTYPE; PROTEIN STRUCTURE, SECONDARY; RETINOIDS;

EID: 55749105894     PISSN: 17446872     EISSN: 17446880     Source Type: Journal    
DOI: 10.1097/FPC.0b013e3282ff5a36     Document Type: Article

References (55)

1. Stoilov I, Akarsu AN, Sarfarazi M. Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum Mol Genet 1997; 6:641-647.
2. Bejjani BA, Lewis RA, Tomey KF, Anderson KL, Dueker DK, Jabak M, et al. Mutations in CYP1B1, the gene for cytochrome P450 1B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. Am J Hum Genet 1998; 62:325-333.
3. 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.
4. Sarfarazi M, Stoilov I, Schenkman JB. Genetics and biochemistry of primary congenital glaucoma. Ophthalmol Clin N Amer 2003; 16:543-554.
5. Stoilov I, Jansson I, Sarfarazi M, Schenkman JB. Roles of cytochrome P450 in development. Drug Metab Drug Interac 2001; 18:33-55.
6. Stoilov I, Rezaie T, Jansson I, Schenkman JB, Sarfarazi M. Expression of cytochrome P4501b1 (Cyp1b1) during early murine development. Mol Vis 2004; 10:629-636.
7. 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; 299:1578-1581.
8. Sansen S, Yano JK, Reynald RL, Schoch GA, Griffin KJ, Stout CD, Johnson EF. Adaptations for the oxidation of polycyclic aromatic hydrocarbons exhibited by the structure of human P450 1A2. J Biol Chem 2007; 282:14348-14355.
9. 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.
10. Jansson I, Schenkman JB. Stoichiometry of aminopyrine demethylation with and without NADH synergism. Drug Metab Dispos 1981; 9:461-465.
11. 5 on the stoichiometry of the different oxidative reactions catalyzed by liver microsomal cytochrome P450. Drug Metab Dispos 1987; 15:344-348.
12. Choudhary D, Jansson I, Sarfarazi M, Schenkman JB. Physiological significance and expression of P450s in the developing eye. Drug Metab Rev 2006; 38:337-352.
13. Choudhary D, Jansson I, Stoilov I, Sarfarazi M, Schenkman JB. Expression patterns of mouse and human CYP orthologs (families 1-4) during development and in different adult tissues. Arch Biochem Biophys 2005; 436:50-61.
14. Choudhary D, Jansson I, Stoilov I, Sarfarazi M, Schenkman JB. Metabolism of retinoids and arachidonic acid by human and mouse cytochrome P450 1B1. Drug Metab Dispos 2004; 32:840-847.
15. Chambers D, Wilson L, Maden M, Lumsden A. RALDH-independent generation of retinoic acid during vertebrate embryogenesis by CYP1B1. Development 2007; 134:1369-1383.
16. Choudhary D, Jansson I, Schenkman JB, Sarfarazi M, Stoilov I. Comparative expression profiling of 40 mouse cytochrome P450 genes in embryonic and adult tissues. Arch Biochem Biophys 2003; 414:91-100.
17. Schenkman JB, Jansson I. Spectral analysis of cytochrome P450. In: Phillips IR, Shephard EA, editors. Methods in molecular biology: cytochrome P450 protocols. Totowa, NJ: Humana Press; 1998. pp. 25-33.
18. Omura T, Sato R. The carbon monoxide-binding pigment of liver microsomes. II: solubilization, purification, and properties. J Biol Chem 1964; 239:2379-2385.
19. Hildebrandt AG, Roots I. Reduced nicotinamide adenine dinucleotide phosphate (NADPH)-dependent formation and breakdown of hydrogen peroxide during mixed function oxidation reactions in liver microsomes. Arch Biochem Biophys 1975; 171:385-397.
20. Brash AR, Boeglin WE, Capdevila JH, Yeola S, Blair IA. 7-HETE, 10-HETE, and 13-HETE are major products of NADPH-dependent arachidonic acid metabolism in rat liver microsomes: analysis of their stereochemistry, and the stereochemistry of their acid-catalyzed rearrangement. Arch Biochem Biophys 1995; 321:485-492.
21. 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. Inv Ophthalmol Vis Sci 2002; 43:1358-1366.
22. Chitsazian F, Tusi BK, Elahi E, Saroei HA, Sanati MH, Yazdani S, et al. Cyp1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes. J Mol Diagn 2007; 9:382-393.
23. 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. American Journal Of Human Genetics 1998; 62:573-584.
24. Alfadhli S, Behbehani A, Elshafey A, Abdelmoaty S, Al-Awadi S. Molecular and clinical evaluation of primary congenital glaucoma in Kuwait. American Journal of Ophthalmology 2006; 141:512-516.
25. 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. Molecular Vision 2007; 13:1458-1468.
26. Chevarria-Soley G, Michels-Rautenstrauss K, Caliebe A, Kautza M, Mardin C, Rautenstrauss B. Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD). Journal of Glaucoma 2006; 16:499-504.
27. El-Ashry MF, Abd El-Aziz MM, Bhattacharya SS. A clinical and molecular genetic study of Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG). J Glaucoma 2007; 16:104-111.
28. Reddy ABM, Kaur K, Mandal AK, Panicker SG, Thomas R, Hasnain SE, et al. Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients. Mol Vis 2004; 10:696-702.
29. Mashima Y, Suzuki Y, Sergeev Y, Ohtake Y, Tanino T, Kimura I, et al. Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma. Invest Ophthalmol Vis Sci 2001; 42:2211-2216.
30. Ohtake Y, Tanino T, Suzuki Y, Miyata H, Taomoto M, Azuma N, et al. Phenotype of cytochrome P450 1B1 gene (CYP1B1) mutations in Japanese patients with primary congenital glaucoma. Br J Ophthalmol 2003; 87:302-304.
31. Panicker SG, Mandal AK, Reddy AB, Gothwal VK, Hasnain SE. Correlations of genotype with phenotype in Indian patients with primary congenital glaucoma. Inv Ophthalmol Vis Sci 2004; 45:1149-1156.
32. Sitorus R, Ardjo SM, Preising M. CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients. Journal Medical Genetics 2003; 40:e9.
33. Stoilov IR, Costa VP, Vasconcellos JP, Melo MB, Betinjane AJ, Carani JC, et al. Molecular genetics of primary congenital glaucoma in Brazil. Investigative Ophthalmology & Visual Science 2002; 43: 1820-1827.
34. Curry SM, Daou 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.
35. Dimasi DP, Hewitt AW, Straga T, Pater J, MacKinnon JR, Elder JE, et al. Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma. Clin Genet 2007; 72:255-260.
36. 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. American Journal of Ophthalmology 2001; 131:345-350.
37. Chavarria-Soley G, Michels-Rautenstrauss K, Pasutto F, Flikier D, Flikier P, Cirak S, et al. Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations. Mol Vis 2006; 12:523-531.
38. Colomb E, Kaplan J, Garchon HJ. Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France. Hum Mutat 2003; 22:496.
39. Hollander DA, Sarfarazi M, Stoilov I, Wood IW, Fredrick DS, Alvarado JA. Genotype and phenotype correlations in congenital glaucoma: CYP1B1 mutations, goniodysgenesis, and clinical characteristics. Am J Ophthalmol 2006; 142:993-1004.
40. Barnes HJ. Maximizing expression of eukaryotic cytochrome P450s in Escherichia coli. Methods Enzymol 1996; 272B:3-14.
41. López-Garrido M-P, Sánchez-Sánchez F, López-Martínez F, Aroca-Aguilar J-D, Blanco-Marchita C, Coca-Prados M, Escribano J. Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma. Mol Vis 2006; 12:748-755.
42. 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.
43. Bandiera S,Weidlich S, Harth V, Broede P, Ko Y, Friedberg T. Proteasomal degradation of human CYP1B1: effect of the Asn453Ser polymorphism on the post-translational regulation of CYP1B1 expression. Mol Pharmacol 2005; 67:435-443.
44. Acharya MMS, Bhattacharjee A, Bandyopadhyay SD, Bhaduri G, Sen A, Ray K. Primary role of CYP1B1 in Indian juvenile-onset POAG patents. Mol Vis 2006; 12:399-404.
45. 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.
46. Vincent A, Billingsley G, Priston M, Glaser T, Oliver E,Walter M, et al. Further support of the role of CYP1B1 in patients with Peters anomaly. Mol Vis 2006; 12:506-510.
47. Gotoh O. Substrate recognition sites in cytochrome-P450 family- 2 (CYP2) proteins inferred from comparative analyses of amino acid and coding nucleotide sequences. J Biol Chem 1992; 267:83-90.
48. Sansen S, Hsu MH, Stout CD, Johnson EF. Structural insight into the altered substrate specificity of human cytochrome P450 2A6 mutants. Arch Biochem Biophys 2007; 464:197-206.
49. Aklillu E, Oscarson M, Hidestrand M, Leidvik B, Otter C, Ingelman-Sundberg M. Functional analysis of six different polymorphic CYP1B1 enzyme variants found in an Ethiopian population. Mol Pharmacol 2002; 61:586-594.
50. Aklillu E, Ovrebo S, Botnen IV, Otter C, Ingelman-Sundberg M. Characterization of common CYP1B1 variants with different capacity for benzo[a]pyrene-7,8-dihydrodiol epoxide formation from benzo[a]pyrene. Cancer Res 2005; 65:5105-5111.
51. Hanna IH, Dawling S, Roodi N, Guengerich FP, Parl FF. Cytochrome P450 1B1 (CYP1B1) pharmacogenetics: association of polymorphisms with functional differences in estrogen hydroxylation activity. Cancer Res 2000; 60:3440-3444.
52. Shimada T,Watanabe J, Inoue K, Guengerich FP, Gillam EMJ. Specificity of 17-oestradiol and benzoapyrene oxidation by polymorphic human cytochrome P4501B1 variants substituted at residues 48, 119 and 432. Xenobiotica 2001; 31:163-176.
53. Shimizu T, Tateishi T, Hatano M, Fujii-Kuriyama Y. Probing the role of lysines and arginines in the catalytic function of cytochrome P450d by site-directed mutagenesis: interaction with NADPH-cytochrome P450 reductase. J Biol Chem 1991; 266:3372-3375.
54. Choudhary D, Jansson I, Rezaul K, Han DK, Sarfarazi M, Schenkman JB. Cyp1b1 protein in the mouse eye during development: an immunohistochemical study. Drug Metab Dispos 2007; 35:987-994.
55. Schenkman JB, Choudhary D, Jansson I, Sarfarazi M, Stoilov I. Involvement of cytochromes P450 in development. Proc Indian Natl Sci Acad 2003; 69:917-929.