Defective peroxisomal catabolism of branched fatty acyl coenzyme A in mice lacking the sterol carrier protein-2/sterol carrier protein-x gene function

Genes and Development

Volumn 12, Issue 8, 1998, Pages 1189-1201

  Seedorf, Udo ^a   Raabe, Martin ^a   Ellinghaus, Peter ^a   Kannenberg, Frank ^a   Fobker, Manfred ^a   Engel, Thomas ^a   Denis, Simone ^b   Wouters, Fred ^c   Wirtz, Karel W A ^c   Wanders, Ronald J A ^b   Maeda, Nobuyo ^d   Assmann, Gerd ^a  

^a UNIVERSITY OF MÜNSTER   (Germany)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c UTRECHT UNIVERSITY   (Netherlands)

^d UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

Cholesterol; Gene targeting; Peroxisomes; Refsum disease; Steroid hormones; oxidation

Indexed keywords

ACYL COENZYME A; STEROL CARRIER PROTEIN 2;

ANIMAL CELL; ARTICLE; GENE DISRUPTION; GENE EXPRESSION; GENE FUNCTION; GENE TARGETING; HYPOLIPEMIA; NEUROPATHY; NONHUMAN; PRIORITY JOURNAL; PROTEIN DEFICIENCY;

ANIMALIA; RODENTIA;

EID: 14444273907     PISSN: 08909369     EISSN: None     Source Type: Journal    
DOI: 10.1101/gad.12.8.1189     Document Type: Article

References (45)

1. Baum, C.L., E.J. Reschly, A.K. Gayen, M.E. Groh, and K. Schadick. 1997. Sterol carrier protein-2 overexpression enhances sterol cycling and inhibits cholesterol ester synthesis and high density lipoprotein cholesterol secretion. J. Biol. Chem. 272: 6490-6498.
2. Bloj, B. and D.B. Zilversmit. 1977. Rat liver proteins capable of transferring phosphatidylethanolamine. Purification and transfer activity for other phospholipids and cholesterol. J. Biol. Chem. 252: 1613-1619.
3. Bult, C.J., O. White, G.J. Olsen, L. Zhou, R.D. Fleischmann, G.G. Sutton, J.A. Blake, L.M. Fitzgerald, R.A. Clayton, J.D. Gocayne, A.R. Kerlavage, B.A. Dougherty, J.F. Tomb, M.D. Adams, C.I. Reich, R. Overbeek, E.F. Kirkness, K.G. Weinstock, J.M. Merrick, A. Glodek, J.L. Scott, N.S.M. Geoghagen, J.F. Weidman, J.L. Fuhrmann, J.C. Venter, et al. 1996. Complete genome sequence of the methanogenic archaeon, Methanococcus jannaschii. Science 273: 1058-1073.
4. Bunya, M., M. Maebuchi, T. Hashimoto, S. Yokota, and T. Kamiryo. 1997. A second isoform of 3-ketoacyl-CoA thiolase found in Caenorhabditis elegans, which is similar to sterol carrier protein-x but lacks the sequence of sterol carrier protein-2. Eur. J. Biochem. 245: 252-259.
5. Chanderbhan, R., B.J. Noland, T.J. Scallen, and G.V. Vahouny. 1982. Sterol carrier protein-2-Delivery of cholesterol from adrenal lipid droplets to mitochondria for pregnenolone synthesis. J. Biol. Chem. 257: 8928-8934.
6. Chomczynski, P. and N. Sacchi. 1987. Single-step method of RNA isolation by acid guanidinium thiocyanate phenol chloroform extraction. Anal. Biochem. 162: 156-159.
7. Croes, K., P.P. van Veldhoven, G.P. Mannaerts, and M. Casteels. 1997. Production of formyl-CoA during peroxisomal alpha-oxidation of 3-methyl-branched fatty acids. FEBS Lett. 407: 197-200.
8. Fort, P., L. Marty, M. Piechaczyk, S. el Sabrouty, C. Dani, P. Jeanteur, and J.M. Blanchard. 1985. Various rat adult tissues express only one major mRNA species from the glyceraldehyde-3-phosphate-dehydrogenase multigenic family. Nucleic Acids Res. 13: 1431-1442.
9. Hijikata, M., N. Ishii, H. Kagamiyama, T. Osumi, and T. Hashimoto. 1987. Structural analysis of cDNA for rat peroxisomal 3-ketoacyl-CoA thiolase. J. Biol. Chem. 262: 8151-8158.
10. Hirai, A., T. Kino, K. Tokinaga, K. Tahara, Y. Tamura, and S. Yoshida. 1994. Regulation of sterol carrier protein-2 (SCP2) gene-expression in rat peritoneal-macrophages during foam cell-formation-A key role for free-cholesterol content. J. Clin. Invest. 94: 2215-2223.
11. Hooper, M., K. Hardy, A. Handyside, S. Hunter, and M. Monk. 1987. HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells. Nature 326: 292-295.
12. Keller, G.A., T.J. Scallen, D. Clarke, P.A. Maher, S.K. Krisans, and S.J. Singer. 1989. Subcellular-localization of sterol carrier protein-2 in rat hepatocytes - Its primary localization to peroxisomes. J. Cell Biol. 108: 1353-1361.
13. Laird, P.W., A. Zijderveld, K. Linders, M.A. Rudnicki, R. Jaenisch, and A. Berns. 1991. Simplified mammalian DNA isolation procedure. Nucleic Acids Res. 19: 4293.
14. Leenders, F., J.G. Tesdorpf, M. Markus, T. Engel, U. Seedorf, and J. Adamski. 1996. Porcine 80-kda protein reveals intrinsic 17-beta-hydroxysteroid dehydrogenase, fatty acyl-CoA-hydratase/dehydrogenase, and sterol transfer activities. J. Biol. Chem. 271: 5438-5442.
15. Lemberger, T., B. Desvergne, and W. Wahli. 1996. Peroxisome proliferator-activated receptors: a nuclear receptor signaling pathway in lipid physiology. Ann. Rev. Cell Dev. Biol. 12: 335-363.
16. McLean, M.P., J.T. Billheimer, K.J. Warden, and R.B. Irby. 1995. Differential expression of hepatic sterol carrier proteins in the streptozotocin-treated diabetic rat. Endocrinology 136: 3360-3368.
17. Noland, B.J., R.E. Arebalo, E. Hansbury, and T.J. Scallen. 1980. Purification and properties of sterol carrier protein-2. J. Biol. Chem. 255: 4282-4289.
18. Ohba, T., H. Rennert, S.M. Pfeifer, Z.G. He, R. Yamamoto, J.A. Holt, J.T. Billheimer, and J.F. Strauss. 1994. The structure of the human sterol carrier protein-x/sterol carrier protein-2 gene (scp2). Genomics 24: 370-374.
19. Ohba, T., J.A. Holt, J.T. Billheimer, and J.F. Strauss. 1995. Human sterol carrier protein-x/sterol carrier protein-2 gene has two promoters. Biochemistry 34: 10660-10668.
20. Ossendorp, B.C. and K.W.A. Wirtz. 1993. The nonspecific lipidtransfer protein (sterol carrier protein-2) and its relationship to peroxisomes. Biochimie 75: 191-200.
21. Ossendorp, B.C., G.P.H. van Heusden, A.L.J. de Beer, K. Bos, G.L. Schouten, and K.W.A. Wirtz. 1991. Identification of the cDNA clone which encodes the 58-kda protein containing the amino-acid-sequence of rat-liver nonspecific lipid-transfer protein (sterol carrier protein-2) - Homology with rat peroxisomal and mitochondrial 3-oxoacyl-CoA thiolases. Eur. J. Biochem. 201: 233-239.
22. Pfeifer, S.M., E.E. Furth, T. Ohba, Y.J. Chang, H. Rennert, N. Sakuragi, J.T. Billheimer, and J.F. Strauss. 1993a. Sterol carrier protein-2-A role in steroid-hormone synthesis. J. Steroid Biochem. Mol. Biol. 47: 167-172.
23. Pfeifer, S.M., N. Sakuragi, A. Ryan, A.L. Johnson, R.G. Deeley, J.T. Billheimer, M.E. Baker, and J.F. Strauss. 1993b. Chicken sterol carrier protein-2/sterol carrier protein-x: cDNA cloning reveals evolutionary conservation of structure and regulated expression. Arch. Biochem. Biophys. 304: 287-293.
24. Puglielli, L., A. Rigotti, A.V. Greco, M.J. Santos, and F. Nervi. 1995. Sterol carrier protein-2 is involved in cholesterol transfer from the endoplasmic reticulum to the plasma membrane in human fibroblasts. J. Biol. Chem. 270: 18723-18726.
25. Raabe, M., U. Seedorf, H. Hameister, P. Ellinghaus, and G. Assmann. 1996. Structure and chromosomal assignment of the murine sterol carrier protein-2 gene (Scp2) and two related pseudogenes by in situ hybridization. Cytogenet. Cell Genet. 73: 279-281.
26. Rennert, H., A. Amsterdam, J.T. Billheimer, and J.F Strauss. 1991. Regulated expression of sterol carrier protein-2 in the ovary - A key role for cyclic-AMP. Biochemistry 30: 11280-11285.
27. Schram, A.W., S. Goldfischer, C.W. van Roermund, K.E. Brouwer, J. Collins, T. Hashimoto, H.S. Heymans, H. van den Bosch, R.B. Schutgens, J.M. Tager, et al. 1987. Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency. Proc. Natl. Acad. Sci. 84: 2494-2496.
28. Seedorf, U. and G. Assmann. 1991. Cloning, expression, and nucleotide-sequence of rat-liver sterol carrier protein-2 cDNAs. J. Biol. Chem. 266: 630-636.
29. Seedorf, U., M. Raabe, and G. Assmann. 1993. Cloning, expression and sequences of mouse sterol-carrier protein-x-encoding cDNAs and a related pseudogene. Gene 123: 165-172.
30. Seedorf, U., P. Brysch, T. Engel, K. Schrage, and G. Assmann. 1994a. Sterol carrier protein-x is peroxisomal 3-oxoacyl coenzyme-A thiolase with intrinsic sterol carrier and lipid transfer activity. J. Biol. Chem. 269: 21277-21283.
31. Seedorf, U., S. Scheck, T. Engel, C. Steif, H.J. Hinz, and G. Assmann. 1994b. Structure-activity studies of human sterol carrier protein-2. J. Biol. Chem, 269: 2613-2618.
32. Seedorf, U., M. Fobker, R. Voss, K. Meyer, F. Kannenberg, D. Meschede, K. Ullrich, J. Horst, A. Benninghoven, and G. Assmann. 1995. Smith-Lemli-Opitz syndrome diagnosed by using time-of-flight secondary-ion mass-spectrometry. Clin. Chem. 41: 548-552.
33. Singh, H. and A. Poulos. 1995. Substrate-specificity of rat-liver mitochondrial carnitine palmitoyl transferase-I - Evidence against alpha-oxidation of phytanic acid in rat-liver mitochondria. FEBS Lett. 359: 179-183.
34. Singh, H., K. Beckman, and A. Poulos. 1994. Peroxisomal beta-oxidation of branched chain fatty acids in rat liver. Evidence that carnitine palmitoyltransferase I prevents transport of branched chain fatty acids into mitochondria. J. Biol. Chem. 269: 9514-9520.
35. Steinberg, D. 1995. Refsum disease. In The metabolic and molecular basis of inherited disease (ed. C.R. Scriver, A.L. Beaudet, W.S. Sly, and D. Valle), pp. 2351-2370. McGraw-Hill, New York, NY.
36. Stolowich, N.J., A. Frolov, B. Atshaves, E.J. Murphy, C.A. Jolly, J.T. Billheimer, A.I. Scott, and F. Schroeder. 1997. The sterol carrier protein-2 fatty acid binding site: an NMR, circular dichroic, and fluorescence spectroscopic determination. Biochemistry 36: 1719-1729.
37. Trzeciak, W.H., E.R. Simpson, T.J. Scallen, G.V. Vahouny, and M.R. Waterman. 1987. Studies on the synthesis of sterol carrier protein-2 in rat adrenocortical-cells in monolayer-culture-regulation by ACTH and dibutyryl cyclic 3′,5′-AMP. J. Biol. Chem. 262: 3713-3717.
38. Wanders, R.A., C.W.T. van Roerrnund, D.S.M. Schor, H.J. Tenbrink, and C. Jakobs. 1994. 2-hydroxyphytanic acid oxidase activity in rat and human liver and its deficiency in the Zellweger-syndrome. Biochim. Biophys. Acta Mol. Basis Dis. 1227: 177-182.
39. Wanders, R.A., S. Denis, F. Wouters, K.W.A. Wirtz, and U. Seedorf. 1997. Sterol carrier protein-x (SCPx) is a peroxisomal branched-chain beta-ketothiolase specifically reacting with 3-oxo-pristanoyl-CoA: A new, unique role for SCPx in branched-chain fatty acid metabolism in peroxisomes. Biochem. Biophys. Res. Commun. 236: 565-569.
40. Watkins, P.A., A.E. Howard, and S.J. Mihalik. 1994. Phytanic acid must be activated to phytanoyl-CoA prior to its alpha-oxidation in rat liver peroxisomes. Biochim. Biophys. Acta 1214: 288-294.
41. Watkins, P.A., A.E. Howard, S.J. Gould, J. Avigan, and S.J. Mihalik. 1996. Phytanic acid activation in rat liver peroxisomes is catalyzed by long-chain acyl-CoA synthetase. J. Lipid Res. 37: 2288-2295.
42. Xu, T.S., E.P. Bowman, D.B. Glass, and J.D. Lambeth. 1991. Stimulation of adrenal mitochondrial cholesterol side-chain cleavage by GTP, steroidogenesis activator polypeptide (SAP), and sterol carrier protein-2. J. Biol. Chem. 266: 6801-6807.
43. Yamamoto, R., C.B. Kallen, G.O. Babalola, H. Rennert, J.T. Billheimer, and J.F. Strauss. 1991. Cloning and expression of a cDNA encoding human sterol carrier protein-2. Proc. Natl. Acad. Sci. 88: 463-467.
44. Yanase, T., T. Hara, Y. Sakai, R. Takayanagi, and H. Nawata. 1996. Expression of sterol carrier protein-2 (SCP2) in human adrenocortical tissue. Eur. J. Endocrinol. 134: 501-507.
45. Zhang, S.H., R.L. Reddick, J.A. Piedrahita, and N. Maeda. 1992. Spontaneous hypercholesterolemia and arterial lesions in mice lacking apolipoprotein-E. Science 258: 468-471.