Two CYP17 genes in the South African Angora goat (Capra hircus) - The identification of three genotypes that differ in copy number and steroidogenic output

FEBS Journal

Volumn 275, Issue 15, 2008, Pages 3934-3943

  Storbeck, Karl Heinz ^a   Swart, Amanda C ^a   Snyman, Margaretha A ^b   Swart, Pieter ^a  

^a STELLENBOSCH UNIVERSITY   (South Africa)

^b Grootfontein Agricultural Development Institute   (South Africa)

Author keywords

Angora goat; Copy number; Cortisol; CYP17; Cytochrome P450 17 hydroxylase 17 20 lyase

Indexed keywords

CYTOCHROME P450 17; HYDROCORTISONE;

ANIMAL CELL; ARTICLE; CONTROLLED STUDY; GENE ACTIVITY; GENE IDENTIFICATION; GENE NUMBER; GENOTYPE; GOAT; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SOUTH AFRICA; STEROIDOGENESIS;

ANIMALS; BASE SEQUENCE; DNA PRIMERS; GENOTYPE; GOATS; HYDROCORTISONE; ISOENZYMES; STEROID 17-ALPHA-HYDROXYLASE;

CAPRA HIRCUS; MAMMALIA;

EID: 47249148935     PISSN: 1742464X     EISSN: 17424658     Source Type: Journal    
DOI: 10.1111/j.1742-4658.2008.06539.x     Document Type: Article

References (40)

1. Nakajin S Hall PF (1981) Microsomal cytochrome P-450 from neonatal pig testis. Purification and properties of a C21 steroid side chain cleavage system (17α hydroxylase-C17,20 lyase). J Biol Chem 256, 3871 3876.
2. Nakajin S, Shively JE, Yuan P Hall PF (1981) Microsomal cytochrome P450 from neonatal pig testis: two enzymatic activities (17α-hydroxylase and C17,20-lyase) associated with one protein. Biochemistry 20, 4037 4042.
3. Zuber MX, Simpson ER Waterman MR (1986) Expression of bovine 17α-hydroxylase cytochrome P-450 cDNA in nonsteroidogenic (COS-1) cells. Science 234, 1258 1261.
4. Thomas JL, Myers RP Strickler RC (1989) Human placental 3-β-hydroxy-5-ene-steroid dehydrogenase and steroid 5-4-ene-isomerase: purification from mitochondria and kinetic profiles, biophysical characterization of the purified mitochondrial and microsomal enzymes. J Steroid Biochem 33, 209 217.
5. Chung BC, Picado-Leonard J, Haniu M, Bienkowski M, Hall PF, Shively JF Miller WL (1987) Cytochrome P450 C17 (steroid 17a-hydroxylase/17,20-lyase): cloning of human adrenal and testis cDNAs indicates that the same gene is expressed in both tissues. Proc Natl Acad Sci USA 84, 407 411.
6. Picado-Leonard J Miller WL (1987) Cloning and sequence of the human gene for P450c17 (steroid 17α-hydroxylase/17,20 lyase): similarity to the gene for P450c21. DNA 6, 439 448.
7. Sparkes RS, Klisak I Miller WL (1991) Regional mapping of genes encoding human steroidogenic enzymes: P450scc to 15q23-q24; adenodoxin to 11q22; adrenonexin reductase to 17q24-q25; and P450c17 to 10q24-q25. DNA Cell Biol 10, 259 365.
8. Youngblood GL, Sartorius C, Taylor BA Payne AH (1991) Isolation, characterization, and chromosomal mapping of mouse P450 17α-hydroxylase/ C17-20 lyase. Genomics 10, 270 275.
9. Fan YS, Sasi R, Lee C, Winter JSD, Waterman MR Lin CC (1992) Localization of the human CYP17 gene (cytochrome P45017α) to 10q24.3 by fluorescence in situ hybridization and simultaneous chromosome banding. Genomics 14, 1110 1111.
10. Givens CR, Zhang P, Bair SR Mellon SH (1994) Transcriptional regulation of rat cytochrome P450c17 expression in mouse Leydig MA-10 and adrenal Y-1 cells: identification of a single protein that mediates both basal and cAMP-induced activities. DNA Cell Biol 13, 1087 1098.
11. Bair SR Mellon SH (2004) Deletion of the mouse P450c17 gene causes early embryonic lethality. Mol Cell Biol 34, 5383 5390.
12. Biglieri EG, Herron MA Brust N (1966) 17-Hydroxylation deficiency in man. J Clin Invest 45, 1946 1954.
13. Yanase T, Simpson ER Waterman MR (1991) 17α-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition. Endocrin Rev 12, 91 108.
14. Kater CE Biglieri EG (1994) Disorders of steroid 17α-hydroxylase deficiency. Endocrinol Metab Clin North Am 23, 341 357.
15. Yanase T (1995) 17α-hydroxylase/17,20-lyase defects. J Steroid Biochem Mol Biol 53, 153 157.
16. Miller WL (1998) Early steps in androgen biosynthesis: from cholesterol to DHEA. Baillieres Clin Endocrinol Metab 12, 67 81.
17. Miura K, Yasuda K, Yanase T, Yamakita N, Sasano H, Nawata H, Inoue M, Fukaya T Shizuta Y (1996) Mutation of cytochrome P-45017α gene (CYP17) in a Japanese patient previously reported as having glucocorticoid-responsive hyperaldosteronism: with a review of Japanese patients with mutations of CYP17. J Clin Endocrinol Metab 81, 3797 3801.
18. Geller DH, Auchus RJ Miller WL (1999) P450c17 mutations R347H and R358Q selectively disrupt 17,20-lyase activity by disrupting interactions with P450 oxidoreductase and cytochrome b5. Mol Endocrinol 13, 167 175.
19. Sherbet DP, Tiosano D, Kwist KM, Hochberg Z Auchus RJ (2003) CYP17 mutation E305G causes isolated 17,20-lyase deficiency by selectively altering substrate binding. J Biol Chem 278, 48563 48569.
20. Storbeck K, Swart AC, Slabbert JT Swart P (2007) The identification of two CYP17 alleles in the South African Angora goat. Drug Metabol Rev 39, 467 480.
21. Wentzel D, Viljoen KS Botha LJJ (1979) Physiological and endocrinological reactions to cold stress in the Angora goat. Agroanimalia 11, 19.
22. Wentzel D (1987) Effects of nutrition on reproduction in the Angora goat. In Proceedings of the IVth International Conference on Goats, Brazilia, Brazil (Santana OP, da Silva AG Foote WC, eds p. 571. Departamento de Difusao de Tecnologia - DDT, Brasilia, Brasil.
23. Munch A (1971) Glucocorticoid inhibition of glucose uptake by peripheral tissue: old and new evidence, molecular mechanisms, and physiological significance. Perspect Biol Med 14, 265.
24. Engelbrecht Y, Herselman T, Louw A Swart P (2000) Investigation of the primary cause of hypoadrenocorticism in South African Angora goats (Capra aegagrus): a comparison with Boer goats (Capra hircus) and Merino sheep (Ovis aries). J Anim Sci 78, 371 379.
25. Engelbrecht Y Swart P (2000) Adrenal function in Angora goats: a comparative study of adrenal steroidogenesis in Angora goats, Boer goats, and Merino sheep. J Anim Sci 78, 1036 1046.
26. Lyon E (2001) Mutation detection using fluorescent hybridization probes and melting curve analysis. Expert Rev Mol Diagn 1, 92 101.
27. Ruiz-Ponte C, Loidi L, Vega A, Carracedo A Barros F (2000) Rapid real-time fluorescent PCR gene dosage test for the diagnosis of DNA duplications and deletions. Clin Chem 46, 1574 1582.
28. +- thalassemias by determining the ratio of the two α-globin gene copies by oligonucleotide hybridization and melting curve analysis. Clin Chem 51, 1711 1713.
29. Pont-Kingdon G Lyon E (2003) Rapid detection of aneuploidy (Trisomy 21) by allele quantification combined with melting curves analysis of single-nucleotide polymorphism loci. Clin Chem 49, 1087 1094.
30. Lyon E, Millson A, Lowery MC, Woods R Wittwer CT (2001) Quantification of HER2/neu gene amplification by competitive PCR using fluorescent melting curve analysis. Clin Chem 47, 844 851.
31. -ΔΔCt method. Methods 25, 4402 4408.
32. Van Rensburg SJ (1971) Reproductive physiology and endocrinology of normal and aborting Angora goats. Onderstepoort J Vet Res 38, 1.
33. Casey NH Van Niekerk WA (1988) The Boer goat. I. Origin, adaptability, performance testing, reproduction and milk production. Small Rumin Res 1, 291 302.
34. Hurles M (2004) Gene duplication: the genomic trade in spare parts. PLoS Biol 2, 900 904.
35. Hayes JL (1882) The Angora Goat: Its Origin, Culture and Products. Cambridge University Press, Cambridge.
36. Snyman MA (2004) Mohair production and reproduction of Angora and Angora × Boer goat genotypes in a sub-optimum environment. Small Rumin Res 53, 75 87.
37. Pandey AV Miller WL (2005) Regulation of 17,20 lyase activity by cytochrome b5 and by serine phosphorylation of P450c17. J Biol Chem 280, 13265 13271.
38. Swart P, Lombard N, Swart AC, van der Merwe T, Murry BA, Nicol M Mason JI (2003) Ovine steroid 17α-hydroxylase cytochrome P450: characteristics of the hydroxylase and lyase activities of the adrenal cortex enzyme. Arch Biochem Biophys 409, 145 152.
39. Johansson I, Lundqvist E, Bertilssont L, Dahlt M, Sjöqvist F Ingelman-Sundberg M (1993) Inherited amplification of an active gene in the cytochrome P450 CYP2D locus as a cause of ultrarapid metabolism of debrisoquine (gene amplificatlon/sparteilne/bufuralol/pharmacogenetlcs/drug therapy). Proc Natl Acad Sci USA 90, 11825 11829.
40. Storbeck K, Kolar NW, Stander M, Swart AC, Prevoo D Swart P (2008) The development of an ultra performance liquid chromatography-coupled atmospheric pressure chemical ionization mass spectrometry assay for seven adrenal steroids. Anal Biochem 372, 11 20.