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

Volumn 62, Issue 3, 1998, Pages 573-584

  Stoilov, Ivaylo ^a   Akarsu, A Nurten ^b   Alozie, Ihuoma ^a   Child, Anne ^e   Barsoum Homsy, Magda ^f   Turacli, M Erol ^c   Or, Meral ^d   Lewis, Richard A ^g   Ozdemir, Nusret ^h   Brice, Glen ^e   Aktan, S Gulderen ^c   Chevrette, Line ^f   Coca Prados, Miguel ⁱ   Sarfarazi, Mansoor ^a  

^a UNIVERSITY OF CONNECTICUT HEALTH CENTER   (United States)

^b HACETTEPE UNIVERSITY   (Turkey)

^c ANKARA UNIVERSITY   (Turkey)

^d GAZI UNIVERSITY   (Turkey)

^e ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^f UNIVERSITY OF MONTREAL   (Canada)

^g UNIVERSITY OF CALIFORNIA   (United States)

^h CUKUROVA UNIVERSITY   (Turkey)

ⁱ YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450;

ADULT; ARTICLE; CHROMOSOME 2P; CONGENITAL GLAUCOMA; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; UVEA;

EID: 17344368983     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301764     Document Type: Article

References (36)

1. Akarsu AN, Turacli ME, Aktan GS, Barsoum-Homsy M, Chevrette L, Sayli S, Sarfarazi M (1996) A second locus (GLC3B) for primary congenital glaucoma (buphthalmos) maps to the 1p36 region. Hum Mol Genet 5:1199-1203
2. Allen L, Burion HM, Braley AE (1955) A new concept of development of anterior chamber angle: its relationship to developmental glaucoma and other structural anomalies. Arch Ophthalmol 53:783-798
3. Anderson DR (1981) The development of the trabecular meshwork and its abnormality in primary infantile glaucoma. Trans Am Ophthalmol Soc 79:458-485
4. Barkan O (1955) Pathogenesis of congenital glaucoma. Am J Ophthalmol 40:1-11
5. Barsoum-Homsy M, Chevrette L (1986) Incidence and prognosis of childhood glaucoma. Ophthalmology 93: 1323-1327
6. Baserga SJ, Benz J Jr (1988) Nonsense mutations in the human β-globin gene affect mRNA metabolism. Proc Natl Acad Sci USA 85:2056-2060
7. Chen CD, Kemper B (1996) Different structural requirements at specific proline rich residue positions in the conserved proline-rich region of cytochrome P4502C2. J Biol Chem 271:28607-28611
8. De Luise Y, Anderson DR (1983) Primary infantile glaucoma (congenital glaucoma). Surv Ophthalmol 28:1-19
9. Francois J (1980) Congenital glaucoma and its inheritance. Ophthalmologica 181:61-73
10. Gencik A (1989) Epidemiology and genetics of primary congenital glaucoma in Slovakia: description of a form of primary congenital glaucoma in gypsies with autosomal recessive inheritance and complete penetrance. Dev Ophthalmol 16:75-115
11. Graham-Lorence SE, Peterson JA (1996) Structural alignments of P450s and extrapolations of the unknown. In: Johnson EF, Waterman MR (eds) Cytochrome P450. Methods Enzymol 272:315-326
12. Hasemann CA, Ravichandran KG, Peterson JA, Deisenhofer J (1994) Crystal structure and refinement of cytochrome P450terp at 2.3 A resolution. J Mol Biol 236:1169-1185
13. Hayes CL, Spink DC, Spink BC, Cao JQ, Walker NJ, Sutter TR (1997) 17 β-Estradiol hydroxylation catalyzed by cytochrome P4501B1. Proc Natl Acad Sci USA 93:9776-9781
14. Hoskins DH Jr, Shaffer RN, Hetherington J (1984) Anatomical classification of the developmental glaucomas. Arch Ophthalmol 102:1331-1336
15. Jaffar MS (1988) Care of the infantile glaucoma patient. In: Reineck RD (ed) Ophthalmology annual. Raven Press, New York
16. Kupfer C, Kaiser-Kupfer M (1979) Observations on the development of the anterior chamber angle with reference to the pathogenesis of congenital glaucomas. Am J Ophthalmol 88:424-426
17. Maumenee AE (1958) The pathogenesis of congenital glaucoma: a new theory. Trans Am Ophthalmol Soc 56:507-570
18. Martin-Vasallo P, Ghosh S, Coca-Prados M (1989) Expression of Na,K-ATPase alpha subunit isoforms in the human ciliary body and cultured ciliary epithelial cells. J Cell Physiol 141: 243-252
19. Murray GI, Taylor MC, McFadyen MC, McKay JA, Greenlee WF, Burke MD, Melvin WT (1997) Tumor-specific expression of cytochrome P450 CYP1B1. Cancer Res 57: 3026-3031
20. Nebert DW (1990) Drug metabolism: growth signal pathways. Nature 347:709-710
21. _ (1991) Proposed role of drug-metabolizing enzymes: regulation of steady state levels of the ligands that effect growth, homeostasis, differentiation, and neuroendocrine functions. Mol Endocrinol 5:1203-1214
22. Nelson DR, Kamataki T, Waxman DJ, Guengerich PF, Estabrook RW, Feyereisen R, Gonzales FJ, et al (1993) The P450 superfamily: update on new sequences, gene mapping, accession numbers, early trivial names of enzymes, and nomenclature. DNA Cell Biol 12:1-51
23. Peitsch MC (1996) ProMod and Swiss-Model: Internet-based tools for automated comparative protein modeling. Biochem Soc Trans 24:274-279
24. Plasilova M, Ferakova E, Kadasi L, Polakova H, Gerinec A, Ott J, Ferak V (1998) Linkage of autosomal recessive primary congenital glaucoma to the GLC3A locus in Roms (Gypsies) from Slovakia. Hum Hered 48:30-33
25. Poulos TL, Finzel BC, Howard AJ (1987) High-resolution crystal structure of cytochrome P450cam. J Mol Biol 195: 687-700
26. Ravichandran KG, Boddupalli SS, Hassemann CA, Peterson JA, Deisenhofer J (1993) Crystal structure of hemoprotein domain of P450BM-3, a prototype for microsomal P450s. Science 261:731-736
27. Rost B, Sander C (1993) Prediction of protein structure at better than 70% accuracy. J Mol Biol 232:584-599
28. Sarfarazi M, Akarsu AN, Hossain A, Turacli ME, Aktan SG, Barsoum-Homsy M, Sayli S (1995) Assignment of a locus (GLC3A) for primary congenital glaucoma (buphthalmos) to 2p21 and evidence for genetic heterogeneity. Genomics 30:171-177
29. Shaffer RN, Weiss DI (1970) Congenital and pediatric glaucomas. CV Mosby, St Louis
30. Smith RF, Smith TF (1992). Pattern induced multi-sequence alignment (PIMA) algorithm employing secondary structure-dependent gap penalties for comparative protein modelling. Protein Eng 5:35-41
31. Stoilov I, Akarsu AN, Sarfarazi M (1997) Identification of three different truncating mutations in the cytochrome P4501B1 (CYP1B1) gene 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
32. Sutter TR, Tang YM, Hayes CL, Wo YYP, Jabs EW, Li X, Yin H, et al (1994) 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 269:13092-13099
33. Tang YM, Wo YYP, Stewart J, Hawkins AL, Griffin CA, Sutter TR, Greenlee WF (1996) Isolation and characterization of the human cytochrome P450 CYP1B1 gene. J Biol Chem 271:28324-28330
34. Turacli ME, Aktan SG, Sayli BS, Akarsu AN (1992) Therapeutical and genetical aspects of congenital glaucomas. Int Ophthalmol 16:359-362
35. Wo YYP, Stewart J, Greenlee WF (1997) Functional analysis of the promoter for the human CYP1B1 gene. J Biol Chem 272:26702-26707
36. Yamazaki S, Sato K, Suhara K, Sakaguchi, Michara K, Omura T (1993) Importance of the proline-rich region following signal-anchor sequence in the formation of correct conformation of microsomal cytochrome P-450s. J Biochem 114: 652-657