Structure and mapping of the human lanosterol 14α-demethylase gene (CYP51) encoding the cytochrome p450 involved in cholesterol biosynthesis; comparison of exon/intron organization with other mammalian and fungal CYP genes

Genomics

Volumn 38, Issue 3, 1996, Pages 371-381

  Rozman, Damjana ^a,d   Strömstedt, Maria ^a   Tsui, Lap Chee ^b,c   Scherer, Stephen W ^b,c   Waterman, Michael R ^a  

^a VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF TORONTO   (Canada)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d UNIVERSITY OF LJUBLJANA   (Slovenia)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450; DNA; LANOSTEROL; MESSENGER RNA; METHYLTRANSFERASE;

ANIMAL CELL; ARTICLE; CHOLESTEROL SYNTHESIS; CHROMOSOME 7Q; CONTROLLED STUDY; DNA DETERMINATION; DNA FLANKING REGION; EXON; GENE LIBRARY; GENE MAPPING; GENE STRUCTURE; HOUSEKEEPING GENE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYBRID CELL; INTRON; MOUSE; MULTIGENE FAMILY; NONHUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TRANSCRIPTION INITIATION;

EID: 0030589679     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1996.0640     Document Type: Article

References (64)

1. Aoyama, Y., Funae, Y., Noshiro, M., Horiuchi, T., and Yoshida, Y. (1994). Occurrence of a P450 showing high homology to yeast lanosterol 14-demethylase (P45014DM) in the rat liver. Biochem. Biophys. Res. Commun. 210: 1320-1326.
2. Aoyama, Y., Noshiro, M., Gotoh, M., Imoaka, S., Funae, Y., Kurosawa, N., Horiuchi, T., and Yoshida, Y. (1996). Sterol 14-demethylase P450 (P450DM) is one of the most ancient and conserved P450 species. J. Biochem. 119: 926-933.
3. Bishop, M. J. (1994). Sequence comparison. In "Human Genome Computing" (M. J. Bishop, Ed.), pp. 215-248, Academic Press, New York.
4. Burke, T. W., and Kadonaga, J. T. (1996). Drosophila TFIID binds to a conserved downstream basal promoter element that is present in many TATA-box-deficient promoters. Genes Dev. 10: 711-724.
5. Burton, P.M., Swinney, B.C., Heller, R., Dunlap, B., Chiou, M., Malonzo, E., Haller, J., Walker, K. A. M., Salari, A., Murakami, S., Mendizabal, G., and Tokes, L. (1995). Azalanstat (RS-2106), a lanosterol 14α-demethylase inhibitor with cholesterol-lowering activity. Biochem. Pharmacol. 50: 529-544.
6. Byskov, G. A., Andersen, C. Y., Nordholm, L., Thögersen, Guoliang, X., Wassman, O., Andersen, J. V., Guddal, E., and Roed, T. (1995). Chemical structure of sterols that activate oocyte meiosys. Nature 374: 559-562.
7. Cavalier-Smith, T. (1991). Intron phylogeny: A new hypothesis. Trends Genet. 7: 145-148.
8. Cheng, S., Chang, S.-Y., Gravitt, P., and Respess, R. (1994). Long PCR. Nature 369: 684-685.
9. Darnell, J. E., and Doolittle, W. F. (1986). Speculations on the early course of evolution. Proc. Natl. Acad. Sci. USA 83: 1271-1275.
10. Degtyarenko, K. N., and Archakov, A. I. (1993). Molecular evolution of P450 superfamily and P-450 containing monooxygenase systems. FEBS Lett. 332: 1-8.
11. Ericsson, J., Jackson, S. M., Lee, B. C., and Edwards, P.A. (1996). Sterol regulatory element binding proteins bind to a cis element in the promoter of the farnesyl diphosphate synthase gene. Proc. Natl. Acad. Sci. USA 93: 945-950.
12. Estabrook, R. W. (1996). The remarkable P450s: A historical overview of these versatile hemoprotein catalysts. FASEB J. 10: 202-204.
13. Gilbert, W., Marchionni, M., and McKnight, G. (1986). On the antiquity of introns. Cell 46: 151-154.
14. Goldstein, J. L., and Brown, M. S. (1990). Regulation of the mevalonate pathway. Nature 343: 425-430.
15. 3-450 genes. J. Biol. Chem. 260: 5040-5049.
16. Gotoh, O. (1993a). Evolution and differentiation of cytochrome P450 genes. In "Cytochrome P450" (T. Omura, Y. Ishimura, and Y. Fuji-Kuriyama, Eds.), pp. 255-273, Kodasha Ltd., Tokyo.
17. Gotoh, O. (1993b). Structure of P-450 genes. In "Cytochrome P450" (T. Omura, Y. Ishimura, and Y. Fuji-Kuriyama, Eds.), pp. 207-223, Kodasha Ltd., Tokyo.
18. Guan, G., Jiang, G., Koch, R., and Shechter, I. (1995). Molecular cloning and functional analysis of the promoter of the human squalene synthase gene. J. Biol. Chem. 270: 21958-21965.
19. Graham-Lorence, S., and Peterson, J. A. (1996). P450s: Structural similarities and functional differences. FASEB J. 10: 206-214.
20. Hasemann, C.A., Kurumbail, R. G., Boddupalli, S.S., Peterson, J. A., and Deisenhofer, J. (1995). Structure and function of cytochrome P450: A comparative analysis of three crystal structures. Structure 3: 41-62.
21. Hashimoto, H., Toide, K, Kitamura, R., Fujita, M., Tagawa, S., Itoh, S., and Kamataki, T. (1993). Gene structure of CYP3A4, an adult-specific form of cytochrome P450 in human livers, and its transcriptional control. Eur. J. Biochem. 218: 585-595.
22. Javitt, B. (1995). Cholesterol homeostasis: Role of the LDL receptor. FASEB J. 9: 1378-1381.
23. Joseph-Horne, T., Hollomon, D., Loeffler, R. S. T., and Kelly, S. L. (1995). Altered P450 activity associated with direct selection for fungal azole resistance. FEBS Lett. 374: 174-178.
24. Kadonaga, J. T., Jones, K. A., and Tijan, R (1986). Promoter-specific activation of RNA polymerase II transcription by Sp1. Trends Biosci. 11: 20-23.
25. Kunz, J., Scherer, S. W., Klawitz, I., Soder, S., Du, Y-Z., Speich, N., Kalff-Suske, M., Heng, H., Tsui, L. C., and Grzeschik, K-H. (1994). Regional localization of 725 human chromosome 7-specific yeast artificial chromosome (YAC) clones. Genomics 22: 439-448.
26. Lewin, B. (1994). Retruviruses and retrotransposons. In "Genes V" (B. Lewin, Ed.), pp. 1033-1056, Oxford Univ. Press, New York.
27. Lamb, D. C., Corran, A., Baldwin, B. C., Kwon-Chung, J., and Kelly, S. L. (1995). Resistant P45051A1 activity in azole antifungal tolerant Cryptococcus neoformans from AIDS patients. FEBS Lett. 368: 326-330.
28. Larsen, F., Gundersen, G., Lopez, R., and Prydz, H. (1992). CpG islands as gene markers in the human genome. Genomics 13: 1095-1107.
29. Leitersdorf, E., Reshef, A., Meiner, V., Levitzki, R., Schwartz, S. P., Dann, E. J., Berkman, N., Cali, J. J., Klapholz, L., and Berginer, V. M. (1993). Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews of Moroccan origin. J. Clin. Invest. 91: 2488-2496.
30. Loper, J. C. (1992). Cytochrome P450 lanosterol 14α-demethylase (CYP51): Insights from molecular genetics analysis of the ERG11 gene in Saccharomyces cerevisiae. J. Steroid. Biochem. Mol. Biol. 43: 1107-1116.
31. Means, G. D., Mahendroo, M. S., Corbin, C. J., Mathis, J. M., Powell, F. E., Mendelson, C. R., and Simpson, E. R. (1989). Structural analysis of the gene encoding human aromatase cytochrome P-450, the enzyme responsible for estrogen biosynthesis. J. Biol. Chem. 32: 19385-19391.
32. Miyata, A., Yokoyama, C., Ihara, H., Bandoh, S., Takeda, O., Takahashi, E.-I., and Tanabe, T. (1994). Characterization of the human gene (TBXAS1) encoding human thromboxane synthase. Eur. J. Biochem. 224: 273-279.
33. Nakayama, K., Suwa, Y., Mizukami, Y., Sogawa, K, and Fujii-Kuriyama, Y. (1993). Cloning and sequencing of a novel rat P45-2B-encoding gene. Gene 136: 333-336.
34. Nebert, D. W., Nelson, D. R., and Feyereisen, R. (1989). Evolution of the cytochrome P450 genes. Xenobiotica 19: 1149-1160.
35. Nebert, D. W., Nelson, D. R., Coon, M. J., Estabrook, R. W., Feyereisen, R., Fuji-Kuriyama, Y., Gonzales, F. J., Guengerich, F. P., Gunsalus, I. C., Johnson, E. F., Loper, J. C., Sato, R., Waterman, M. R., and Waxman, D. J. (1991). The P450 superfamily: Update on new sequences, gene mapping, and recommended nomenclature. DNA Cell. Biol. 10: 1-14.
36. Nelson, D. R., and Strobel, H. W. (1987). Evolution of cytochrome P450 proteins. Mol. Biol. Evol. 4: 572-593.
37. Nelson, D. R., Koymans, L., Kamataki, T., Stegman, J. J., Feyereisen, R., Waxman, D. J., Waterman, M. R., Gotoh, O., Coon, M. J., Estabrook, R. W., Gunsalus, I. C., and Nebert, D.W. (1996). CYP450 superfamily: Update on new sequences, gene mapping, accession numbers and nomenclature. Pharmacogenetics 6: 1-42.
38. Nishimoto, M., Noshiro, M., and Okuda, K. (1993). Structure of the gene encoding human liver cholesterol 7α-hydroxylase. Biochim. Biophys. Acta 1172: 147-150.
39. Ohyama, Y., Noshiro, M., Eggertsen, G., Gotoh, O., Kato, Y., Björkhem, I., and Okuda, K. (1993). Structural characterization of the gene encoding rat 25-hydroxyvitamin D3 24-hydroxylase. Biochemistry 32: 76-82.
40. Osborne, T. F. (1991). Single nucleotide resolution of sterol regulatory region in promoter for 3-hydroxy-3-methylglutaryl coenzyme A reductase. J. Biol. Chem. 266: 13947-13951.
41. Osborne, T. F., Bennett, M., and Rhee, K. (1992). Red25, a protein that binds specifically to the sterol regulatory region in the promoter for 3-hydroxy-3-methylglutaryl-coenzyme A reductase. J. Biol. Chem. 267: 18973-18982.
42. Palmer, C. N. A., Griffin, K.J., and Johnson, E. F. (1993). Rabbit prostaglandin ω-hydroxylase (CYP4A4): Gene structure and expression. Arch. Biochem. Biophys. 300: 670-676.
43. Quandt, K. Frech, K., Karas, H., Wingender, E., and Werner, T. (1995). MatInd and MatInspector: New fast and versatile tools for detection of consensus matches in nucleotide sequence data. Nucleic Acids Res. 23: 4878-4884.
44. Rath, D., Niemann, H., and Tao, T. (1995). In vitro maturation of porcine oocytes in follicular fluid with subsequent effects on fertilization and embryo yield in vitro. Theriogenelogy 44: 529-538.
45. Rogers, J. (1985). Exon shuffling and intron insertion in serine protease genes. Nature 315: 458-459.
46. Rogers, J. H. (1989). How were introns inserted into nuclear genes? Trends Genet. 5: 213-216.
47. Rozman, D., and Komel, R. (1994). Isolation of DNA from filamentous fungi with high glucan level. BioTechniques 16: 382-384.
48. Rozman, D., Strömstedt, M., and Waterman, M. R. (1996). The three human cytochrome P450 lanosterol 14α-demethylase (CYP51) genes reside on chromosomes 3, 7 and 13: Structure of the two retrotransposed pseudogenes, association with a LINE-1 element and evolution of the human CYP51 family. Arch. Biochem. Biophys., 333: 466-474.
49. Sambrook, J., Fritsch, E. F., and Maniatis, T. (1989). "Molecular Cloning: A Laboratory Manual," Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
50. 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes. J. Clin. Invest. 96: 1779-1785.
51. Scherer, S. W., Tompkins, B. J. F., and Tsui, L.-C. (1992). A human chromosome 7-specific genomic DNA library in yeast artificial chromosomes. Mamm. Genome 3: 179-181.
52. Scherer, S. W., Poorkaj, P., Massa, H., Soder, S., Allan, T., Nunes, M., Geshuri, D., Wong, E., Belloni, E., Little, S., Zhou, L., Becker, D., Kere, J., Ignatius, J., Niikawa, N., Fukushima, Y., Hasegawa, T., Weissenbach, J., Boncinelli, E., Trask, B., Tsui, L.-C., and Evans, J. P. (1994). Physical mapping of the split hand/split foot locus on chromosome 7 and implication in sydromic ectrodactyly. Hum. Mol. Genet. 3: 1345-1354.
53. Strömstedt, M., Rozman, D., and Waterman, M. R. (1996). The ubiquitously expressed human CYP51 encodes lanosterol 14α-demethylase, a cytochrome P450 whose expression is regulated by oxysterols. Arch. Biochem. Biophys. 329: 73-81.
54. Swinney, D. C., So, O.-Y., Watson, D. M., Berry, P. W., Webb, A. S., Kertesz, D. J., Shelton, E. J., Burton, P. M., and Walker, K. A. M. (1994). Selective inhibition of mammalian lanosterol 14α-demethylase by RS-2106 in vitro and in vivo. Biochemistry 33: 4702-4713.
55. Tint, S. G., Irons, M., Elias, E. R., Batta, A. K, Freiden, R., Chen, T. S., and Salen, G. (1994). Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N. Engl. J. Med. 330: 107-113.
56. Tint, G. S., Salen, G., Batta, A., Shefer, S., Irons, M., Roy, E., Abuelo, D. N., Johnson, V. P., Lambert, M., Lutz, R., Schanen, C., Colleen, A. M., Hogansan, G., and Huges-Benzie, R. (1995). Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome. J. Pediatr. 127: 82-87.
57. Tsui, L.-C., Donis-Keller, H., and Grzeschik, K-H. (1995). Report on the second international workshop on human chromosome 7 mapping. Cytogenet. Cell. Genet. 71: 1-31.
58. Turi, T. G., and Loper J. C. (1992). Multiple regulatory elements control expression of the gene encoding the Saccharomyces cerevisiae cytochrome P450, lanosterol 14α-demethylase (ERG11). J. Biol. Chem. 267: 2046-2056.
59. Venkateswarlu, K., Denning, D. W., Manning, N. J., and Kelly, S. L. (1995). Resistance to fluconazole in Candida albicans AIDS patients correlated with reduced intracellular accumulation of drug. FEMS Microbiol. Lett. 131: 337-341.
60. Wagner, R. P., Maguire, M. P., and Stallings, R. L. (1993). Organization of genomes and their chromosomes. In "Chromosome: A Synthesis" (R. P. Wagner, M. P. Maguire, and R. L. Stallings, Eds.), pp. 375-416, Wiley-Liss, New York.
61. Wallace, M., Zori, R. T., Alley, T., Whidden, E., Gray, B. A., and Williams, C. A. (1994). Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: Probably disruption of an SLOS gene. Am. J. Med. Genet. 50: 368-374.
62. Wang, X., Sato, R., Brown, M. S., Hua, X., and Goldstein, J. L. (1994). SREBP-1, a membrane-bound transcription factor released by sterol-regulated proteolysis. Cell 77: 53-62.
63. Waterman, M. R. (1995). Cytochrome P450. In "Molecular Biology and Biotechnology" (R. A. Meyers, Ed.), pp. 197-200, VCH, Weinheim/New York.
64. White, P. C., New, M. I., and Dupont, B. (1986). Structure of human steroid 21-hydroxylase genes. Proc. Natl. Acad. Sci. USA 83: 5111-5115.