Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme

Human Mutation

Volumn 29, Issue 9, 2008, Pages 1147-1153

  Chavarria Soley, Gabriela ^a,d   Sticht, Heinrich ^a   Aklillu, Eleni ^b   Ingelman Sundberg, Magnus ^c   Pasutto, Francesca ^a   Reis, André ^a   Rautenstrauss, Bernd ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^c KAROLINSKA INSTITUTE   (Sweden)

^d UNIVERSITY HOSPITAL ERLANGEN   (Germany)

Author keywords

Background haplotype; CYP1B1; Cytochrome P450 1B1; Enzymatic activity; PCG; Primary congenital glaucoma

Indexed keywords

CYTOCHROME P450 1B1;

ALLELE; ARTICLE; CONGENITAL GLAUCOMA; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME STABILITY; GENE DELETION; GENE MUTATION; GENETIC VARIABILITY; HAPLOTYPE; NONHUMAN; PRIORITY JOURNAL; PROTEIN FOLDING; SINGLE NUCLEOTIDE POLYMORPHISM;

ARYL HYDROCARBON HYDROXYLASES; GLAUCOMA; HAPLOTYPES; HUMANS; MODELS, MOLECULAR; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN CONFORMATION;

EID: 51549085464     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20786     Document Type: Article

References (42)

1. Acharya M, Mookherjee S, Bhattacharjee A, Bandyopadhyay AK, Daulat Thakur SK, Bhaduri G, Sen A, Ray K. 2006. Primary role of CYP1B1 in Indian juvenile-onset POAG patients. Mol Vis 12:399-404.
2. Agundez JA. 2004. Cytochrome P450 gene polymorphism and cancer. Curr Drug Metab 5:211-224.
3. Ahn JH, Kang HH, Kim YJ, Chung JW. 2005. Anti-apoptotic role of retincic acid in the inner ear of noise-exposed mice. Biochem Biophys Res Commun 335:485-490.
4. Aklillu E, Oscarson M, Hidestrand M, Leidvik B, Otter C, Ingelman-Sundberg M. 2002. Functional analysis of six different polymorphic CYP1B1 enzyme variants found in an Ethiopian population. Mol Pharmacol 61:586-594.
5. Aklillu E, Ovrebo S, Botnen IV, Otter C, Ingelman-Sundberg M. 2005. Characterization of common CYP1B1 variants with different capacity for benzo[a]pyrene-7,8-dihydrodiol epoxide formation from benzo[a]pyrene. Cancer Res 65:5105-5111.
6. Bagiyeva S, Marfany G, Gonzalez-Angulo O, Gonzalez-Duarte R. 2007. Mutational screening of CYP1B1 in Turkish PCG families and functional analyses of newly detected mutations. Mol Vis 13:1458-1468.
7. Bradford MM. 1976. A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal Biochem 72:248-254.
8. Chavarria-Soley G, Michels-Rautenstrauss K, Caliebe A, Kautza M, Mardin C, Rautenstrauss B. 2006a. Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD). J Glaucoma 15:499-504.
9. 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. 2006b. Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations. Mol Vis 12:523-531.
10. Chen H, Howald WN, Juchau MR. 2000. Biosynthesis of all-trans-retinoic acid from all-trans-retinol: catalysis of all-trans-retinol oxidation by human P-450 cytochromes. Drug Metab Dispos 28:315-322.
11. Churchill AJ, Yeung A. 2005. A compound heterozygous change found in Peters' anomaly. Mol Vis 11:66-70.
12. Cojocaru V, Winn PJ, Wade RC. 2007. The ins and outs of cytochrome P450s. Biochim Biophys Acta 1770:390-401.
13. Colomb E, Kaplan J, Garchon HJ. 2003. Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France. Hum Mutat 22:496.
14. Dheen ST, Jun Y, Yan Z, Tay SS, Ling EA. 2005. Retinole acid inhibits expression of TNF-alpha and iNOS in activated rat microglia. Glia 50:21-31.
15. Edward D, Al Rajhi A, Lewis RA, Curry S, Wang Z, Bejjani B. 2004. Molecular basis of Peters anomaly in Saudi Arabia. Ophthalmic Genet 25:257-270.
16. Francois J. 1980. Congenital glaucoma and its inheritance. Ophthalmologica 181:61-73.
17. Graham-Lorence S, Truan G, Peterson JA, Falck JR, Wei S, Helvig C, Capdevila JH. 1997. An active site substitution, F87V, converts cytochrome P450 BM-3 into a regio- and stereoselective (14S,15R)-arachidonic acid epoxygenase. J Biol Chem 272:1127-1135.
18. Graham SE, Peterson JA. 1999. How similar are P450 s and what can their differences teach us? Arch Biochem Biophys 369:24-29.
19. Guerois R, Nielsen JE, Serrano L. 2002. Predicting changes in the stability of proteins and protein complexes: a study of more than 1000 mutations. J Mol Biol 320:369-387.
20. Guex N, Peitsch MC. 1997. SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling. Electrophoresis 18:2714-2723.
21. Hanna IH, Dawling S, Roodi N, Guengerich FP, Parl FF. 2000. Cytochrome P450 1B1 (CYP1B1) pharmacogenetics: association of polymorphisms with functional differences in estrogen hydroxylation activity. Cancer Res 60:3440-3444.
22. Jansson I, Stoilov I, Sarfarazi M, Schenkman JB. 2001. Effect of two mutations of human CYP1B1, G61E and R469W, on stability and endogenous steroid substrate metabolism. Pharmacogenetics 11:793-801.
23. Li DN, Seidel A, Pritchard MP, Wolf CR, Friedberg T. 2000. Polymorphisms in P450 CYP1B1 affect the conversion of estradiol to the potentially carcinogenic metabolite 4-hydroxyestradiol. Pharmacogenetics 10:343-353.
24. Libby RT, Smith RS, Savinova OV, Zabaleta A, Martin JE, Gonzalez FJ, John SW. 2003. Modification of ocular defects in mouse developmental glaucoma models by tyrosinase. Science 299:1578-1581.
25. Lopez-Garrido MP, Sanchez-Sanchez F, Lopez-Martinez F, Aroca-Aguilar JD, Blanco-Marchite C, Coca-Prados M, Escribano J. 2006. Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma. Mol Vis 12:748-755.
26. Ludemann SK, Lounnas V, Wade RC. 2000. How do substrates enter and products exit the buried active site of cytochrome P450cam? 2. Steered molecular dynamics and adiabatic mapping of substrate pathways. J Mol Biol 303:813-830.
27. Mammen JS, Pittman GS, Li Y, Abou-Zahr F, Bejjani BA, Bell DA, Strickland PT, Sutter TR. 2003. Single amino acid mutations, but not common polymorphisms, decrease the activity of CYP1B1 against (-)benzo[a]pyrene-7R-trans-7,8- dihydrodiol. Carcinogenesis 24:1247-1255.
28. McLellan RA, Oscarson M, Hidestrand M, Leidvik B, Jonsson E, Otter C, Ingelman-Sundberg M. 2000. Characterization and functional analysis of two common human cytochrome P450 1B1 variants. Arch Biochem Biophys 378:175-181.
29. Melki R, Colomb E, Lefort N, Brezin AP, Garchon HJ. 2004. CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. J Med Genet 41:647-651.
30. Melki R, Lefort N, Brezin AP, Garchon HJ. 2005. Association of a common coding polymorphism (N453S) of the cytochrome P450 1B1 (CYP1B1) gene with optic disc cupping and visual field alteration in French patients with primary open-angle glaucoma. Mol Vis 11:1012-1017.
31. Omura T, Sato R. 1964. The carbon monoxide-binding pigment of liver microsomes. I. Evidence for its hemoprotein nature. J Biol Chem 239:2370-2378.
32. Sayle RA, Milner-White EJ. 1995. RASMOL: biomolecular graphics for all. Trends Biochem Sci 20:374.
33. Scott EE, He YA, Wester MR, White MA, Chin CC, Halpert JR, Johnson EF, Stout CD. 2003. An open conformation of mammalian cytochrome P450 2B4 at 1.6-A resolution. Proc Natl Acad Sci USA 100:13196-13201.
34. Sen J, Harpavat S, Peters MA, Cepko CL. 2005. Retinoic acid regulates the expression of dorsoventral topographic guidance molecules in the chick retina. Development 132:5147-5159.
35. Sena DF, Finzi S, Rodgers K, Del Bono E, Haines JL, Wiggs JL. 2004. Founder mutations of CYP1B1 gene in patients with ongenital glaucoma from the United States and Brazil. J Med Genet 41:e6.
36. Shimada T, Watanabe J, Kawajiri K, Sutter TR, Guengerich FP, Gillam EM, Inoue K. 1999. Catalytic properties of polymorphic human cytochrome P450 1B1 variants. Carcinogenesis 20:1607-1613.
37. Stoilov I, Akarsu AN, Sarfarazi M. 1997. 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 6:641-647.
38. Stoilov I, Jansson I, Sarfarazi M, Schenkman JB. 2001. Roles of cytochrome p450 in development. Drug Metabol Drug Interact 18:33-55.
39. Stoilov IR, Costa VP, Vasconcellos JP, Melo MB, Betinjane AJ, Carani JC, Oltrogge EV, Sarfarazi M. 2002. Molecular genetics of primary congenital glaucoma in Brazil. Invest Ophthalmol Vis Sci 43:1820-1827.
40. Urban P, Cullin C, Pompon D. 1990. Maximizing the expression of mammalian cytochrome P-450 monooxygenase activities in yeast cells. Biochimie 72:463-472.
41. Vincent A, Billingsley G, Priston M, Williams-Lyn D, Sutherland J, Glaser T, Oliver E, Walter MA, Heathcote G, Levin A, Héon E. 2001. Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly. J Med Genet 38:324-326.
42. Wang JT, Kunzevitzky NJ, Dugas JC, Cameron M, Barres BA, Goldberg JL. 2007. Disease gene candidates revealed by expression profiling of retinal ganglion cell development. J Neurosci 27:8593-8603.