NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets

Human Molecular Genetics

Volumn 12, Issue 22, 2003, Pages 2981-2991

  Caldas, Hugo ^a   Herman, Gail E ^a,b  

^a THE RESEARCH INSTITUTE AT NATIONWIDE CHILDREN S HOSPITAL   (United States)

^b OHIO STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARBOXYLYASE; CHOLESTEROL; FAT DROPLET; LIPID; METHYL GROUP; PROTEIN NSDHL; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE STEROID DEHYDROGENASE LIKE PROTEIN; SQUALENE; STEROID REDUCTASE; UNCLASSIFIED DRUG;

ALLELE; ANIMAL CELL; ANIMAL DISEASE; ARTICLE; BIOACCUMULATION; CELL STRUCTURE; CELL TRANSPORT; CELLULAR DISTRIBUTION; CHOLESTEROL SYNTHESIS; CONFOCAL MICROSCOPY; CONGENITAL DISORDER; CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM NEVUS AND LIMB DEFECTS SYNDROME; CONTROLLED STUDY; CYTOPLASM; DISEASE ASSOCIATION; ENDOPLASMIC RETICULUM; GENE LOCATION; GENE MUTATION; GENETIC CODE; GOLGI COMPLEX; HUMAN; HUMAN CELL; ICHTHYOSIS; LETHALITY; LIMB DEFECT; MOLECULAR MODEL; MOUSE; NONHUMAN; PRIORITY JOURNAL; REGULATORY MECHANISM; SEQUENCE TAGGED SITE; SEX DIFFERENCE; SURFACE PROPERTY; WILD TYPE; X CHROMOSOME LINKAGE;

3-HYDROXYSTEROID DEHYDROGENASES; ALLELES; ANIMALS; BIOLOGICAL MARKERS; BLOTTING, WESTERN; CERCOPITHECUS AETHIOPS; CHOLESTEROL; CODON, NONSENSE; COS CELLS; ENDOPLASMIC RETICULUM; FLUORESCENT ANTIBODY TECHNIQUE, DIRECT; GOLGI APPARATUS; GREEN FLUORESCENT PROTEINS; HELA CELLS; HUMANS; HYDROXYSTEROID DEHYDROGENASES; LIPID METABOLISM; LUMINESCENT PROTEINS; MICE; MICROSCOPY, CONFOCAL; MODELS, BIOLOGICAL; PROTEIN TRANSPORT; RECOMBINANT FUSION PROTEINS; SUBCELLULAR FRACTIONS;

ANIMALIA; MURINAE;

EID: 0344875023     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddg321     Document Type: Article

References (51)

1. Fitzgerald, M.L., Moore, K.J. and Freeman, M.W. (2002) Nuclear hormone receptors and cholesterol trafficking: the orphans find a new home. J. Mol. Med., 80, 271-281.
2. Edwards, P.A., Kennedy, M.A. and Mak, P.A. (2002) LXRs; oxysterol-activated nuclear receptors that regulate genes controlling lipid homeostasis. Vascul. Pharmac., 38, 249-256.
3. Jeong, J. and McMahon, A.P. (2002) Cholesterol modification of Hedgehog family proteins. J. Clin. Invest., 110, 591-596.
4. Goldstein, J.L. and Brown, M.S. (1990) Regulation of the mevalonate pathway. Nature, 343, 425-430.
5. Gaylor, J.L. (2002) Membrane-bound enzymes of cholesterol synthesis from lanosterol. Biochem. Biophys. Res. Commun., 292, 1139-1146.
6. Kovacs, W.J., Olivier, L.M. and Krisans, S.K. (2002) Central role of peroxisomes in isoprenoid biosynthesis. Prog. Lipid. Res., 41, 369-391.
7. Liu, X.Y., Dangel, A.W., Kelley, R.I., Zhao, W., Denny, P., Botcherby, M., Cattanach, B., Peters, J., Hunsicker, P.R., Mallon, A.M. et al. (1999) The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase. Nat. Genet., 22, 182-187.
8. Happle, R., Phillips, R.J., Roessner, A. and Junemann, G. (1983) Homologous genes for X-linked chondrodysplasia punctata in man and mouse. Hum. Genet., 63, 24-27.
9. Herman, G.E. (2000) X-Linked dominant disorders of cholesterol biosynthesis in man and mouse. Biochim. Biophys. Acta, 1529, 357-373.
10. Phillips, R.J.S. (1963) Striated, a new sex-linked gene in the house mouse. Genet. Res., 4, 151-153.
11. Lucas, M.L., Ma, Q., Cunningham, D., Peters, J., Cattanach, B., Bard, M., Elmore, B.K. and Herman, G.E. (2003) Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast. Mol. Genet. Metab. (in press).
12. Konig, A., Happle, R., Bornholdt, D., Engel, H. and Grzeschik, K.H. (2000) Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. Am. J. Med. Genet., 90, 339-346.
13. Konig, A., Happle, R., Fink-Puches, R., Soyer, H.P., Bornholdt, D., Engel, H. and Grzeschik, K.H. (2002) A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement. J. Am. Acad. Dermatol., 46, 594-596.
14. Hummel, M., Cunningham, D., Mullett, C.J., Kelley, R.I. and Herman, G.E. (2003) Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene. Am. J. Med. Genet., 122A, 246-251.
15. Braverman, N., Lin, P., Moebius, F.F., Obie, C., Moser, A., Glossmann, H., Wilcox, W.R., Rimoin, D.L., Smith, M., Kratz, L. et al. (1999) Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hunermann syndrome. Nat. Genet., 22, 291-294.
16. Derry, J.M., Gormally, E., Means, G.D., Zhao, W, Meindl, A., Kelley, R.I., Boyd, Y. and Herman, G.E. (1999) Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. Nat. Genet., 22, 286-290.
17. Mo, C., Valachovic, M., Randall, S.K., Nickels, J.T. and Bard, M. (2002) Protein-protein interactions among C-4 demethylation enzymes involved in yeast sterol biosynthesis. Proc. Natl Acad. Sci. USA, 99, 9739-9744.
18. Baudry, K., Swain, E., Rahier, A., Germann, M., Batta, A., Rondet, S., Mandala, S., Henry, K., Tint, G.S., Edlind, T. et al. (2001) The effect of the erg26-1 mutation on the regulation of lipid metabolism in Saccharomyces cerevisiae. J. Biol. Chem., 276, 12702-12711.
19. Penning, T.M. (1997) Molecular endocrinology of hydroxysteroid dehydrogenases. Endocr. Rev., 18, 281-305.
20. Kamijo, K., Taketani, S., Yokota, S., Osumi, T. and Hashimoto, T. (1990) The 70-kDa peroxisomal membrane protein is a member of the Mdr (P-glycoprotein)-related ATP-binding protein superfamily. J. Biol. Chem., 265, 4534-4540.
21. Teasdale, R.D. and Jackson, M.R. (1996) Signal-mediated sorting of membrane proteins between the endoplasmic reticulum and the golgi apparatus. Annu. Rev. Cell. Dev. Biol., 12, 27-54.
22. Andersson, H., Kappeler, F. and Hauri, H.P. (1999) Protein targeting to endoplasmic reticulum by dilysine signals involves direct retention in addition to retrieval. J. Biol. Chem., 274, 15080-15084.
23. Letourneur, F., Gaynor, E.C., Hennecke, S., Demolliere, C., Duden, R., Emr, S.D., Riezman, H. and Cosson, P. (1994) Coatomer is essential for retrieval of dilysine-tagged proteins to the endoplasmic reticulum. Cell, 79, 1199-1207.
24. Tauchi-Sato, K., Ozeki, S., Houjou, T., Taguchi, R. and Fujimoto, T. (2002) The surface of lipid droplets is a phospholipid monolayer with a unique fatty acid composition. J. Biol. Chem., 277, 44507-44512.
25. Elagoz, A., Callejo, M., Armstrong, J. and Rokeach, L. (1999) Although calnexin is essential in S. pombe, its highly conserved central domain is dispensable for viability. J. Cell Sci., 112, 4449-4460.
26. Li, L. and Kaplan, J. (1996) Characterization of yeast methyl sterol oxidase (ERG25) and identification of a human homologue. J. Biol. Chem., 271, 16927-16933.
27. Marijanovic, Z., Laubner, D., Moller, G., Gege, C., Husen, B., Adamski, J. and Breitling, R. (2003) Closing the gap: Identification of human 3-ketosteroid reductase, the last unknown enzyme of mammalian cholesterol biosynthesis. Mol. Endocrinol., 17, 1715-1725.
28. Silve, S., Dupuy, P.H., Ferrara, P. and Loison, G. (1998) Human lamin B receptor exhibits sterol C14-reductase activity in Saccharomyces cerevisiae. Biochim. Biophys. Acta, 1392, 233-244.
29. Holmer, L., Pezhman, A. and Worman, H.J. (1998) The human lamin B receptor/sterol reductase multigene family. Genomics, 54, 469-476.
30. Dussossoy, D., Carayon, P., Belugou, S., Feraut, D., Bord, A., Goubet, C., Roque, C., Vidal, H., Combes, T., Loison, G. et al. (1999) Colocalization of sterol isomerase and sigma(1) receptor at endoplasmic reticulum and nuclear envelope level. Eur. J. Biochem., 263, 377-386.
31. Murphy, D.J. and Vance, J. (1999) Mechanisms of lipid-body formation. Trends Biochem. Sci., 24, 109-115.
32. Brown, D.A. (2001) Lipid droplets: proteins floating on a pool of fat. Curr. Biol., 11, R446-449.
33. Zweytick, D., Athenstaedt, K. and Daum, G. (2000) Intracellular lipid particles of eukaryotic cells. Biochim. Biophys. Acta, 1469, 101-120.
34. Miura, S., Gan, J.W., Brzostowski, J., Parisi, M.J., Schultz, C.J., Londos, C., Oliver, B. and Kimmel, A.R. (2002) Functional conservation for lipid storage droplet association among Perilipin, ADRP, and TIP47 (PAT)-related proteins in mammals, Drosophila, and Dictyostelium. J. Biol. Chem., 277, 32253-32257.
35. Londos, C., Brasaemle, D.L., Schultz, C.J., Segrest, J.P. and Kimmel, A.R. (1999) Perilipins, ADRP, and other proteins that associate with intracellular neutral lipid droplets in animal cells. Semin. Cell. Dev. Biol., 10, 51-58.
36. Wolins, N.E., Skinner, J.R., Schoenfish, M.J., Tzekov, A., Bensch, K.G. and Bickel, P.E. (2003) Adipocyte protein S3-12 coats nascent lipid droplets. J. Biol. Chem., 278, 37713-37721.
37. van Meer, G. (2001) Caveolin, cholesterol, and lipid droplets? J. Cell Biol., 152, F29-34.
38. Zajchowski, L.D. and Robbins, S.M. (2002) Lipid rafts and little caves. Compartmentalized signalling in membrane microdomains. Eur. J. Biochem., 269, 737-752.
39. Abell, B.M., Holbrook, L.A., Abenes, M., Murphy, D.J., Hills, M.J. and Moloney, M.M. (1997) Role of the proline knot motif in oleosin endoplasmic reticulum topology and oil body targeting. Plant Cell, 9, 1481-1493.
40. Ostermeyer, A.G., Paci, J.M., Zeng, Y., Lublin, D.M., Munro, S. and Brown, D.A. (2001) Accumulation of caveolin in the endoplasmic reticulum redirects the protein to lipid storage droplets. J. Cell Biol., 152, 1071-1078.
41. Gachotte, D., Barbuch, R., Gaylor, J., Nickel, E. and Bard, M. (1998) Characterization of the Saccharomyces cerevisiae ERG26 gene encoding the C-3 sterol dehydrogenase (C-4 decarboxylase) involved in sterol biosynthesis. Proc. Natl Acad. Sci. USA, 95, 13794-13799.
42. Gachotte, D., Eckstein, J., Barbuch, R., Hughes, T., Roberts, C. and Bard, M. (2001) A novel gene conserved from yeast to humans is involved in sterol biosynthesis. J. Lipid Res., 42, 150-154.
43. Kraemer, F.B., Laane, C., Park, B. and Sztalryd, C. (1994) Low-density lipoprotein receptors in rat adipocytes: regulation with fasting. Am. J. Physiol., 266, E26-32.
44. Prattes, S., Horl, G., Hammer, A., Blaschitz, A., Graier, W, Sattler, W., Zechner, R. and Steyrer, E. (2000) Intracellular distribution and mobilization of unesterified cholesterol in adipocytes: triglyceride droplets are surrounded by cholesterol-rich ER-like surface layer structures. J. Cell Sci., 113, 2977-2989.
45. Milla, P., Athenstaedt, K., Viola, F., Oliaro-Bosso, S., Kohlwein, S.D., Daum, G. and Balliano, G. (2002) Yeast oxidosqualene cyclase (Erg7p) is a major component of lipid particles. J. Biol. Chem., 277, 2406-2412.
46. Mo, C., Milla, P., Athenstaedt, K., Ott, R., Balliano, G., Daum, G. and Bard, M. (2003) In yeast sterol biosynthesis the 3-keto reductase protein (Erg27p) is required for oxidosqualene cyclase (Erg7p) activity. Biochim. Biophys. Acta, 1633, 68-74.
47. Ohashi, M., Mizushima, N., Kabeya, Y. and Yoshimori, T. (2003) Localization of mammalian NAD(P)H steroid dehydrogenase-like protein on lipid droplets. J. Biol. Chem., 278, 36819-36829.
48. Martinez-Botas, J., Ferruelo, A.J., Suarez, Y., Fernandez, C., Gomez-Coronado, D. and Lasuncion, M.A. (2001) Dose-dependent effects of lovastatin on cell cycle progression. distinct requirement of cholesterol and non-sterol mevalonate derivatives. Biochim. Biophys. Acta, 1532, 185-194.
49. Callebaut, I., Labesse, G., Durand, P, Poupon, A., Canard, L., Chomilier, J., Henrissat, B. and Mornon, J.P. (1997) Deciphering protein sequence information through hydrophobic cluster analysis (HCA): current status and perspectives. Cell. Mol. Life Sci., 53, 621-645.
50. Mitaku, S., Hirokawa, T. and Tsuji, T. (2002) Amphiphilicity index of polar amino acids as an aid in the characterization of amino acid preference at membrane-water interfaces. Bioinformatics, 18, 608-616.
51. Blom, N., Gammeltoft, S. and Brunak, S. (1999) Sequence and structure-based prediction of eukaryotic protein phosphorylation sites. J. Mol. Biol., 294, 1351-1362.