Niemann-pick C1 is a late endosome-resident protein that transiently associates with lysosomes and the trans-Golgi network

Molecular Genetics and Metabolism

Volumn 68, Issue 1, 1999, Pages 1-13

  Higgins, Maureen E ^a   Davies, Joanna P ^a   Chen, Fannie W ^a   Ioannou, Yiannis A ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Cholesterol transport; Endosomes; Low density lipoprotein derived cholesterol; Niemann Pick C1; U18666A

Indexed keywords

ALPHA MANNOSIDASE; AMINO ACID; BETA GALACTOSIDASE; BETA N ACETYLHEXOSAMINIDASE; CHOLESTEROL; COMPLEMENTARY DNA; GLYCOPROTEIN; POLYCLONAL ANTIBODY; PROTEIN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE FERRIHEMOPROTEIN REDUCTASE;

AMINO ACID SEQUENCE; ANIMAL CELL; ANIMAL TISSUE; ARTICLE; CELL FRACTIONATION; CELLULAR DISTRIBUTION; CONTROLLED STUDY; GENE; GOLGI COMPLEX; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE MICROSCOPY; IMMUNOPRECIPITATION; LYSOSOME; MOUSE; NIEMANN PICK DISEASE; NONHUMAN; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL;

ANIMALIA;

EID: 0032887393     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1999.2882     Document Type: Article

References (50)

1. Sokol J, Blanchette-Mackie E J, Kruth H S, Dwyer N K, Amende L M, Butler J D, Robinson E, Patel S, Brady R O, Comley M E, Vanier M T, Pentchev P G. Type C Niemann-Pick disease: Lysosomal accumulation and defective intracellular mobilization of low density lipoprotein cholesterol. J Biol Chem. 263:1988;3411-3417.
2. Pentchev P G, Kruth H S, Comly M E, Butler J D, Vanier M T, Wenger D A, Patel S. Type C Niemann-Pick disease: A parallel loss of regulatory responses in both the uptake and esterification of low-density lipoprotein-derived cholesterol in cultured fibroblasts. J Biol Chem. 261:1986;16775-16780.
3. Liscum L, Faust J R. Low density lipoprotein (LDL)-mediated suppression of cholesterol synthesis and LDL uptake is defective in Niemann-Pick type C fibroblasts. J Biol Chem. 262:1987;17002-17008.
4. Pentchev P G, Comly M E, Kruth H S, Vanier M T, Wenger D A, Patel S, Brady R O. A defect in cholesterol esterification in Niemann-Pick disease (type C) patients. Proc Natl Acad Sci USA. 82:1985;8247-8251.
5. Carstea E D, Morris J A, Coleman K G, Loftus S K, Zhang D, Cummings C, Gu J, Rosenfeld M A, Pavan W J, Krizman D B, Nagle J, Polymeropoulos M H, Sturley S L, Ioannou Y A, Higgins M E, Comly M, Cooney A, Brown A, Kaneski C R, Blanchette-Mackie E J, Dwyer N K, Neufeld E B, Chang T Y, Liscum L, Tagle D A. Niemann-Pick C1 disease gene: Homology to mediators of cholesterol homeostasis [see comments]. Science. 277:1997;228-231.
6. Watari H, Blanchette-Mackie E J, Dwyer N K, Glick J M, Patel S, Neufeld E B, Brady R O, Pentchev P G, Strauss J F 3rd. Niemann-Pick C1 protein: Obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization. Proc Natl Acad Sci USA. 96:1999;805-810.
7. Patel S C, Suresh S, Kumar U, Hu C Y, Cooney A, Blanchette-Mackie E J, Neufeld E B, Patel R C, Brady R O, Patel Y C, Pentchev P G, Ong W Y. Localization of Niemann-Pick C1 protein in astrocytes: Implications for neuronal degeneration in Niemann-Pick type C disease. Proc Natl Acad Sci USA. 96:1999;1657-1662.
8. Neufeld E B, Wastney M, Patel S, Suresh S, Cooney A M, Dwyer N K, Roff C F, Ohno K, Morris J A, Carstea E D, Incardona J P, Strauss J F 3rd, Vanier M T, Patterson M C, Brady R O, Pentchev P G, Blanchette-Mackie E J. The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo. J Biol Chem. 274:1999;9627-9635.
9. Ho S N, Hunt H D, Horton R M, Pullen J K, Pease L R. Site-directed mutagenesis by overlap extension using the polymerase chain reaction. Gene. 77:1989;51-59.
10. Strijker R, Fritz D T, Levinson A D. Adenovirus VAI-RNA regulates gene expression by controlling stability of ribosome-bound RNAs. EMBO J. 8:1989;2669-2675.
11. Kaufman R J. Identification of the components necessary for adenovirus translational control and their utilization in CDNA expression vectors. Proc Natl Acad Sci USA. 82:1985;689-693.
12. Zeidner K, Desnick R J, Ioannou Y A. Quantitative determination of globotriaosylceramide by immunodetection of glycolipid-bound recombinant verotoxin B subunit. Anal Biol. 267:1999;104-113.
13. Sambrook, J, Fritsch, E, F, Maniatis, T: In, Molecular Cloning, (, Nolan, C, Ed.), Cold Spring Harbor, NY, Cold Spring Harbor Laboratory Press.
14. Laemmli E K. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature. 227:1970;680-685.
15. Ioannou Y A, Zeidner K M, Grace M E, Desnick R J. Human α-galactosidase A: Glycosylation site 3 is essential for enzyme solubility. Biochem J. 332:1998;789-797.
16. Graham J. The identification of subcellular fractions from mammalian cells. Graham J, Higgins J. Methods in Molecular Biology. 1993;1-18 Humana Press, Totowa.
17. Harlow E, Lane D. Antibodies: A Laboratory Manual. 1988;Cold Spring Harbor Laboratory Press, Cold Spring Harbor.
18. Lombardi D, Soldati T, Riederer M A, Goda Y, Zerial M, Pfeffer S R. Rab9 functions in transport between late endosomes and the trans Golgi network. EMBO J. 12:1993;677-682.
19. Soldati T, Riederer M A, Pfeffer S R, Rab G DI. A solubilizing and recycling factor for rab9 protein. Mol Biol Cell. 4:1993;425-434.
20. Carlsson S R, Roth J, Piller F, Fukuda M. Isolation and characterization of human lysosomal membrane glycoproteins, h-lamp-1 and h-lamp-2, major sialoglycoproteins carrying polylactosaminoglycan. J Biol Chem. 263:1988;18911-18919.
21. Chen W, Feng Y, Chen D, Wandinger-Ness A. Rab11 is required for trans-golgi network-to-plasma membrane transport and a preferential target for GDP dissociation inhibitor. Mol Biol Cell. 9:1998;3241-3257.
22. Conrad P A, Smart E J, Ying Y S, Anderson R G, Bloom G S. Caveolin cycles between plasma membrane caveolae and the Golgi complex by microtubule-dependent and microtubule-independent steps. J Cell Biol. 131:1995;1421-1433.
23. Mu F T, Callaghan J M, Steele-Mortimer O, Stenmark H, Parton R G, Campbell P L, McCluskey J, Yeo J P, Tock E P, Toh B H. EEA1, an early endosome-associated protein. EEA1 is a conserved alpha-helical peripheral membrane protein flanked by cysteine "fingers" and contains a calmodulin-binding IQ motif. J Biol Chem. 270:1995;13503-13511.
24. Rajagopalan S, Xu Y, Brenner M. Retention of unassembled components of integral membrane proteins by calnexin. Science. 263:1994.
25. Liscum L, Faust J R. The intracellular transport of low density lipoprotein-derived cholesterol is inhibited in Chinese hamster ovary cells cultured with 3β-[2-(diethylamino)ethoxy]androst-5-en-17-one. J Biol Chem. 264:1989;11796-11806.
26. Riederer M A, Soldati T, Shapiro A D, Lin J, Pfeffer S R. Lysosome biogenesis requires Rab9 function and receptor recycling from endosomes to the trans-Golgi network. J Cell Biol. 125:1994;573-582.
27. Dirac-Svejstrup A B, Soldati T, Shapiro A D, Pfeffer S R. Rab-GDI presents functional Rab9 to the intracellular transport machinery and contributes selectivity to Rab9 membrane recruitment. J Biol Chem. 269:1994;15427-15430.
28. van Meer G. Lipid traffic in animal cells. Annu Rev Cell Biol. 5:1989;247-275.
29. Coxey R A, Pentchev P G, Campbell G, Blanchette-Mackie E J. Differential accumulation of cholesterol in Golgi compartments of normal and Niemann-Pick type C fibroblasts incubated with LDL: A cytochemical freeze-fracture study. J Lipid Res. 34:1993;1165-1176.
30. Martin O C, Comly M E, Blanchette-Mackie J, Pentchev P G, Pagano R E. Cholesterol deprivation affects the fluorescence properties of a ceramide analog at the Golgi apparatus of living cells. Proc Natl Acad Sci USA. 90:1993;2661-2665.
31. Mendez A J. Monesin and brefeldin A inhibit high density lipoprotein-mediated cholesterol efflux from cholesterol-enriched cells: Implications for intracellular cholesterol transport. J Biol Chem. 270:1995;5891-5900.
32. Neufeld E B, Cooney A M, Pitha J, Dawidowicz E A, Dwyer N K, Pentchev P G, Blanchette-Mackie E J. Intracellular trafficking of cholesterol monitored with a cyclodextrin. J Biol Chem. 271:1996;21604-21613.
33. Chege N W, Pfeffer S R. Compartmentation of the Golgi complex: Brefeldin-A distinguishes trans-Golgi cisternae from the trans-Golgi network. J Cell Biol. 111:1990;893-899.
34. Liscum L, Underwood K W. Intracellular cholesterol transport and compartmentation. J Biol Chem. 270:1995;15443-15446.
35. Kobayashi T, Beuchat M-H, Lindsay M, Frias S, Palmiter R D, Sakuraba H, Parton R G, Gruenberg J. Late endosomal membranes rich in lysobiphosphatidic acid regulate cholesterol transport. Nature Cell Biol. 1:1999;113-118.
36. Mullock B M, Perez J H, Kuwana T, Gray S R, Luzio J P. Lysosomes can fuse with a late endosomal compartment in a cell-free system from rat liver. J Cell Biol. 126:1994;1173-1182.
37. Mellman I. Endocytosis and molecular sorting. Annu Rev Cell Dev Biol. 12:1996;575-625.
38. Bright N A, Reaves B J, Mullock B M, Luzio J P. Dense core lysosomes can fuse with late endosomes and are re-formed from the resultant hybrid organelles. J Cell Sci. 110:1997;2027-2040.
39. Mullock B M, Bright N A, Fearon C W, Gray S R, Luzio J P. Fusion of lysosomes with late endosomes produces a hybrid organelle of intermediate density and is NSF dependent. J Cell Biol. 140:1998;591-601.
40. Hornick C A, Hui D Y, DeLamatre J G. A role for retrosomes in intracellular cholesterol transport from endosomes to the plasma membrane. Am J Physiol. 273:1997;C1075-C1081.
41. Porpaczy Z, Tomasek J J, Freeman D A. Internalized plasma membrane cholesterol passes through an endosome compartment that is distinct from the acid vesicle-lysosome compartment. Exp Cell Res. 234:1997;217-224.
42. Mukherjee S, Zha X, Tabas I, Maxfield F R. Cholesterol distribution in living cells: Fluorescence imaging using dehydroergosterol as a fluorescent cholesterol analog. Biophys J. 75:1998;1915-1925.
43. Kurzchalia T V, Dupree P, Parton R G, Kellner R, Virta H, Lehnert M, Simons K. VIP21, a 21 KD membrane protein, is an integral component of trans-Golgi network-derived transport vesicles. J Cell Biol. 118:1992;1003-1014.
44. Smart E J, Ying Y-S, Conrad P A, Anderson R GW. Caveolin moves from caveolae to the Golgi apparatus in response to cholesterol oxidation. J Cell Biol. 127:1994;1185-1197.
45. Smart E J, Ying Y-S, Donzell W C, Anderson R GW. A role for caveolin in transport of cholesterol from endoplasmic reticulum to plasma membrane. J Biol Chem. 271:1996;29427-29435.
46. Murata M, Peranen J, Schreiner R, Wieland F, Kurzchalia T V, Simons K. VIP21/caveolin is a cholesterol-binding protein. Proc Natl Acad Sci USA. 92:1995;10339-10343.
47. Fra R A, Williamson E, Simons K, Parton R G. De novo formation of caveolae in lymphocytes by expression of VIP21-caveolin. Proc Natl Acad Sci USA. 92:1995;8655-8659.
48. Dupree P, Parton R G, Raposo G, Kurzchalia T V, Simons K. Caveolae and sorting in the trans-Golgi network of epithelial cells. EMBO J. 12:1993;1597-1605.
49. Lange Y, Matthies H JG. Transfer of cholesterol from its site of synthesis to the plasma membrane. J Biol Chem. 259:1984;14624-14630.
50. Urbani L, Simoni R D. Cholesterol and vesicular stomatitis virus G protein take separate routes from the endoplasmic reticulum to the plasma membrane. J Biol Chem. 265:1990;1919-1923.