Use of expression constructs to dissect the functional domains of the CHS/beige protein: Identification of multiple phenotypes

Traffic

Volumn 4, Issue 6, 2003, Pages 403-415

  Ward, Diane McVey ^a   Shiflett, Shelly L ^a   Huynh, Dinh ^a   Vaughn, Michael B ^a   Prestwich, Glenn ^b   Kaplan, Jerry ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF UTAH   (United States)

Author keywords

Beige; Chediak Higashi; Dominant negative; Lysosome; WD40 repeats

Indexed keywords

AMINO ACID; BEIGE PROTEIN; CELL PROTEIN; MONOCLONAL ANTIBODY; PHOSPHATIDYLINOSITOL 4,5 BISPHOSPHATE; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL DISEASE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CELL DEATH; CELL NUCLEUS; CELL STRAIN COS7; CELLULAR DISTRIBUTION; CHEDIAK HIGASHI SYNDROME; CLONE; CONTROLLED STUDY; FIBROBLAST; GENE CONSTRUCT; GOLGI COMPLEX; HELA CELL; HUMAN; HUMAN CELL; LYSOSOME; MEMBRANE TRANSPORT; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEPLETION; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN INTERACTION; STAINING; YEAST ARTIFICIAL CHROMOSOME;

ANIMALS; BASE SEQUENCE; BINDING SITES; BLOTTING, WESTERN; CERCOPITHECUS AETHIOPS; CHEDIAK-HIGASHI SYNDROME; CLONING, MOLECULAR; COS CELLS; DNA PRIMERS; FIBROBLASTS; HELA CELLS; HUMANS; LYSOSOMES; MICE; MOLECULAR SEQUENCE DATA; PHOSPHATIDYLINOSITOL 4,5-DIPHOSPHATE; POLYMERASE CHAIN REACTION; PROTEINS; RECOMBINANT PROTEINS; TRANSFECTION; VESICULAR TRANSPORT PROTEINS;

EID: 0038824131     PISSN: 13989219     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0854.2003.00093.x     Document Type: Article

References (51)

1. Clague MJ. Molecular aspects of the endocytic pathway. Biochem J 1998;336:271-282.
2. Ward DM, Griffiths GM, Stinchcombe JC, Kaplan J. Analysis of the lysosomal storage disease Chediak-Higashi syndrome. Traffic 2000;1:816-822.
3. Ward DM, Shiflett SL, Kaplan J. Chediak-Higashi syndrome: a clinical and molecular view of a rare lysosomal storage disorder. Curr Mol Med 2002;2:469-477.
4. Perou CM, Kaplan J. Complementation analysis of Chediak-Higashi syndrome: the same gene may be responsible for the defect in all patients and species. Somat Cell Mol Genet 1993;19:459-468.
5. Perou CM, Leslie JD, Green W, Li L, Ward DM, Kaplan J. The Beige/ Chediak-Higashi syndrome gene encodes a widely expressed cytosolic protein. J Biol Chem 1997;272:29790-29794.
6. Tchernev VT, Mansfield TA, Giot L, Kumar AM, Nandabalan K, Li Y, Mishra VS, Detter JC, Rothberg JM, Wallace MR, Southwick FS, Kingsmore SF. The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins. Mol Med 2002;8:56-64.
7. Shiflett SL, Kaplan J, Ward DM. Chediak-Higashi syndrome: a rare disorder of lysosomes and lysosome related organelles. Pigment Cell Res 2002;15:251-257.
8. Wang N, De Wu WI, Lozanne A. BEACH family of proteins: phylogenetic and functional analysis of six Dictyostelium BEACH proteins. J Cell Biochem 2002;86:561-570.
9. Kwak E, Gerald N, Larochelle DA, Vithalani KK, Niswonger ML, Maready M, De Lozanne A. LvsA, a protein related to the mouse beige protein, is required for cytokinesis in Dictyostelium. Mol Biol Cell 1999;10:4429-4439.
10. Gerald NJ, De Siano M, Lozanne A. The Dictyostelium LvsA protein is localized on the contractile vacuole and is required for osmoregulation. Traffic 2002;3:50-60.
11. Harris E, Wang N, Wu WIWL, De Weatherford A, Lozanne A, Cardelli J. Dictyostelium LvsB mutants model the lysosomal defects associated with Chediak-Higashi syndrome. Mol Biol Cell 2002;13:656-669.
12. Han JD, Baker NE, Rubin CS. Molecular characterization of a novel A kinase anchor protein from Drosophila melanogaster. J Biol Chem 1997;272:26611-26619.
13. Wang X, Herberg FW, Laue MM, Wullner C, Hu B, Petrasch-Parwez E, Kilimann MW. Neurobeachin: a protein kinase A-anchoring, beige/ Chediak-Higashi protein homolog implicated in neuronal membrane traffic. J Neurosci 2000;20:8551-8565.
14. Perou CM, Moore KJ, Nagle DL, Misumi DJ, Woolf EA, McGrail SH, Holmgren L, Brody TH, Dussault BR, Jr, Monroe CA, Duyk GM, Pryor RJ, Li L, Justice MJ, Kaplan J. Identification of the murine beige gene by YAC complementation and positional cloning. Nat Genet 1996;13:303-308.
15. Yoshida M, Horinouchi S. Trichostatin and leptomycin. Inhibition of histone deacetylation and signal-dependent nuclear export. Ann N Y Acad Sci 1999;886:23-36.
16. Huizing M, Anikster Y, Gahl WA. Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking. Thromb Haemost 2001;86:233-245.
17. McVey Ward D, Griffiths GM, Stinchcombe JC, Kaplan J. Analysis of the lysosomal storage disease Chediak-Higashi syndrome. Traffic 2000;1:816-822.
18. Garcia-Higuera I, Gaitatzes C, Smith TF, Neer EJ. Folding a WD repeat propeller. Role of highly conserved aspartic acid residues in the G protein beta subunit and Sec13. J Biol Chem 1998;273:9041-9049.
19. Sondek J, Bohm A, Lambright DG, Hamm HE, Sigler PB. Crystal structure of a G-protein beta gamma dimer at 2.1A resolution. Nature 1996;379:369-374.
20. Gilbert DJ, Engel H, Wang X, Grzeschik KH, Copeland NG, Jenkins NA, Kilimann MW. The neurobeachin gene (Nbea) identifies a new region of homology between mouse central chromosome 3 and human chromosome 13q13. Mamm Genome 1999;10:1030-1031.
21. Feuchter AE, Freeman JD, Mager DL. Strategy for detecting cellular transcripts promoted by human endogenous long terminal repeats: identification of a novel gene (CDC4L) with homology to yeast CDC4. Genomics 1992;13:1237-1246.
22. Martin TF. Phosphoinositides as spatial regulators of membrane traffic. Curr Opin Neurobiol 1997;7:331-338.
23. Odorizzi G, Babst M, Emr SD. Phosphoinositide signaling and the regulation of membrane trafficking in yeast. Trends Biochem Sci 2000;25:229-235.
24. Corvera S, D'Arrigo A, Stenmark H. Phosphoinositides in membrane traffic. Curr Opin Cell Biol 1999;11:460-465.
25. Simonsen A, Wurmser AE, Emr SD, Stenmark H. The role of phosphoinositides in membrane transport. Curr Opin Cell Biol 2001;13:485-492.
26. Thomas CL, Steel J, Prestwich GD, Schiavo G. Generation of phosphatidylinositol-specific antibodies and their characterization. Biochem Soc Trans 1999;27:648-652.
27. Ozaki S, DeWald DB, Shope JC, Chen J, Prestwich GD. Intracellular delivery of phosphoinositides and inositol phosphates using polyamine carriers. Proc Natl Acad Sci USA 2000;97:11286-11291.
28. Boronenkov IV, Loijens JC, Umeda M, Anderson RA. Phosphoinositide signaling pathways in nuclei are associated with nuclear speckles containing pre-mRNA processing factors. Mol Biol Cell 1998;9:3547-3560.
29. Perou CM, Perchellet A, Jago T, Pryor R, Kaplan J, Justice MJ. Comparative mapping in the beige-satin region of mouse chromosome 13. Genomics 1997;39:136-146.
30. Hong HK, Noveroske JK, Headon DJ, Liu T, Sy MS, Justice MJ, Chakravarti A. The winged helix/forkhead transcription factor Foxq1 regulates differentiation of hair in satin mice. Genesis 2001;29:163-171.
31. Swank RT, Novak EK, McGarry MP, Rusiniak ME, Feng L. Mouse models of Hermansky Pudlak syndrome: a review. Pigment Cell Res 1998;11:60-80.
32. Dell'Angelica EC, Mullins C, Caplan S, Bonifacino JS. Lysosome-related organelles. FASEB J 2000;14:1265-1278.
33. Feng L, Seymour AB, Jiang S, To A, Peden AA, Novak EK, Zhen L, Rusiniak ME, Eicher EM, Robinson MS, Gorin MB, Swank RT. The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness. Hum Mol Genet 1999;8: 323-330.
34. Yang W, Li C, Ward DM, Kaplan J, Mansour SL. Defective organellar membrane protein trafficking in Ap3b1-deficient cells. J Cell Sci 2000;113:4077-4086.
35. Adam-Klages S, Adam D, Wiegmann K, Struve S, Kolanus W, Schneider-Mergener J, Kronke M. FAN, a novel WD-repeat protein, couples the p55 TNF-receptor to neutral sphingomyelinase. Cell 1996;86:937-947.
36. Blanchette-Mackie EJ, Dwyer NK, Barber T, Coxey RA, Takeda T, Rondinone CM, Theodorakis JL, Greenberg AS, Londos C. Perilipin is located on the surface layer of intracellular lipid droplets in adipocytes. J Lipid Res 1995;36:1211-1226.
37. Londos C, Brasaemle DL, Schultz CJ, Segrest JP, Kimmel AR. Perilipins, ADRP, and other proteins that associate with intracellular neutral lipid droplets in animal cells. Semin Cell Dev Biol 1999;10:51-58.
38. Miura S, Gan JW, Brzostowski J, Parisi MJ, Schultz CJ, Londos C, Oliver B, Kimmel AR. Functional conservation for lipid storage droplet association among Perilipin, ADRP, and TIP47 (PAT)-related proteins in mammals, Drosophila, and Dictyostelium. J Biol Chem 2002;277:32253-32257.
39. Diaz E, Pfeffer SR. TIP47: a cargo selection device for mannose 6-phosphate receptor trafficking. Cell 1998;93:433-443.
40. Oliver JM, Gelfand EW, Pearson CB, Pfeiffer JR, Dosch HM. Microtubule assembly and concanavalin A capping in lymphocytes: reappraisal using normal and abnormal human peripheral blood cells. Proc Natl Acad Sci USA 1980;77:3499-3503.
41. Boxer LA, Albertini DF, Baehner RL, Oliver JM. Impaired microtubule assembly and polymorphonuclear leucocyte function in the Chediak-Higashi syndrome correctable by ascorbic acid. Br J Haematol 1979;43:207-213.
42. Malawista SE, Oliver JM, Rudolph SA. Microtubules and cyclic AMP in human leukocytes: on the order of things. J Cell Biol 1978;77:881-886.
43. Perou CM, Kaplan J. Chediak-Higashi syndrome is not due to a defect in microtubule-based lysosomal mobility. J Cell Sci 1993; 106:99-107.
44. Sato A, Tanabe F, Ito M, Ishida E, Shigeta S. Thiol proteinase inhibitors reverse the increased protein kinase C down-regulation and concanavalin A cap formation in polymorphonuclear leukocytes from Chediak-Higashi syndrome (beige) mouse. J Leukoc Biol 1990;48: 377-381.
45. Ito M, Tanabe F, Takami Y, Sato A, Shigeta S. Rapid down-regulation of protein kinase C in (Chediak-Higashi syndrome) beige mouse by phorbol ester. Biochem Biophys Res Commun 1988;153:648-656.
46. Ito M, Sato A, Tanabe F, Ishida E, Takami Y, Shigeta S. The thiol proteinase inhibitors improve the abnormal rapid down-regulation of protein kinase C and the impaired natural killer cell activity in (Chediak-Higashi syndrome) beige mouse. Biochem Biophys Res Commun 1989;160:433-440.
47. Cui SH, Tanabe F, Terunuma H, Iwatani Y, Nunoi H, Agematsu K, Komiyama A, Nomura A, Hara T, Onodera T, Iwata T, Ito M. A thiol proteinase inhibitor, E-64-d, corrects the abnormalities in concanavalin A cap formation and the lysosomal enzyme activity in leucocytes from patients with Chediak-Higashi syndrome by reversing the down-regulated protein kinase C activity. Clin Exp Immunol 2001;125:283-290.
48. Tanabe F, Cui SH, Ito M. Abnormal down-regulation of PKC is responsible for giant granule formation in fibroblasts from CHS (beige) mice - a thiol proteinase inhibitor, E-64-d, prevents giant granule formation in beige fibroblasts. J Leukoc Biol 2000;67:749-755.
49. Perou CM, Justice MJ, Pryor RJ, Kaplan J. Complementation of the beige mutation in cultured cells by episomally replicating murine yeast artificial chromosomes. Proc Natl Acad Sci USA 1996;93: 5905-5909.
50. Audhya A, Foti M, Emr SD. Distinct roles for the yeast phosphatidylinositol 4-kinases, Stt4p and Pik1p, in secretion, cell growth, and organelle membrane dynamics. Mol Biol Cell 2000;11:2673-2689.
51. Mayer A, Scheglmann D, Dove S, Glatz A, Wickner W, Haas A. Phosphatidylinositol 4,5-bisphosphate regulates two steps of homotypic vacuole fusion. Mol Biol Cell 2000;11:807-817.