Analyses of proteins involved in vesicular trafficking in platelets of mouse models of Hermansky Pudlak syndrome

Molecular Genetics and Metabolism

Volumn 68, Issue 1, 1999, Pages 14-23

  Richards Smith, Beverly ^a   Novak, Edward K ^a   Jang, Elliott K ^b   He, Ping ^d   Haslam, Richard J ^b   Castle, David ^c   Whiteheart, S W ^d   Swank, Richard T ^a  

^a ROSWELL PARK CANCER INSTITUTE   (United States)

^b MCMASTER UNIVERSITY   (Canada)

^c UNIVERSITY OF VIRGINIA HEALTH SYSTEM   (United States)

^d UNIVERSITY OF KENTUCKY   (United States)

Author keywords

Hermansky Pudlak syndrome; Lysosomes; Melanosomes; Platelets; Vesicular trafficking

Indexed keywords

ADAPTOR PROTEIN; HYBRID PROTEIN; MEMBRANE PROTEIN; SYNTAXIN;

ANIMAL CELL; ANIMAL MODEL; ARTICLE; CONTROLLED STUDY; GENE MAPPING; GENE MUTATION; IMMUNOBLOTTING; LYSOSOME; MELANOSOME; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; OCULAR ALBINISM; PHENOTYPE; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; SOUTHERN BLOTTING; THROMBOCYTE;

ANIMALIA;

EID: 0032887064     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1999.2891     Document Type: Article

References (53)

1. Swank R T, Novak E K, McGarry M P, Rusiniak M E, Feng L. Mouse models of Hermansky Pudlak syndrome: A review. Pigment Cell Res. 11:1998;60-80.
2. McGarry M P, Reddington M, Novak E K, Swank R T. Survival and lung pathology of mouse models of Hermansky-Pudlak syndrome and Chediak-Higashi syndrome. Proc Soc Exp Biol Med. 220:1999;162-168.
3. Witkop C J, Quevedo W C, Fitzpatrick T B, King R A. Albinism. Scriver C R, Beaudet A L, Sly W AS, Valle D. The Metabolic Basis of Inherited Disease. 1989;2905-2947 McGraw-Hill, New York.
4. King R A, Hearing V J, Creel D J, Oetting W AS. Albinism. Scriver C R, Beaudet A L, Sly W AS, Valle D. The Metabolic Basis of Inherited Disease. 1995;4353-4392 McGraw-Hill, New York.
5. Shotelersuk V, Gahl W A. Hermansky-Pudlak Syndrome: Models for intracellular vesicle formation. Molec Genet Metabol. 65:1998;85-96.
6. Spritz R A. Molecular genetics of the Hermansky-Pudlak and Chediak-Higashi syndromes. Platelets. 9:1998;21-29.
7. Oberhauser A F, Fernandez J M. A fusion pore phenotype in mast cells of the ruby-eye mouse. Proc Natl Acad Sci USA. 93:1996;14349-14354.
8. Novak E K, Reddington M, Zhen L, Stenberg P E, Jackson C W, McGarry M P, Swank R T. Inherited thrombocytopenia caused by reduced platelet production in mice with the gunmetal pigment gene mutation. Blood. 85:1995;1781-1789.
9. Swank R T, Jiang S Y, Reddington M, Conway J, Stephenson D, McGarry M P, Novak E K. Inherited abnormalities in platelet organelles and platelet formation and associated altered expression of low molecular weight guanosine triphosphate-binding proteins in the mouse pigment mutant gunmetal. Blood. 81:1993;2626-2635.
10. Feng G H, Bailin T, Oh J, Spritz R A. Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron. Hum Molec Genet. 6:1997;793-797.
11. Gardner J M, Wildenberg S C, Keiper N M, Novak E K, Rusiniak M E, Swank R T, Puri N, Finger Jn, Hagiwara N, Lehman A L, Gales T L, Bayer M E, King R A, Brilliant M H. The mouse pale ear mutation is the homologue of human Hermansky-Pudlak syndrome. Proc Natl Acad Sci USA. 94:1997;9238-9243.
12. Kantheti P, Qiao X, Diaz M E, Peden A A, Meyer G E, Carskadon S L, Kapfhamer D, Sufalko D, Robinson M S, Noebels J L, Burmeister M. Mutation in AP-3 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles. Neuron. 21:1998;111-122.
13. Feng L, Seymour A B, Jiang S, To A, Peden A A, Novak E K, Zhen L, Rusiniak M E, Eicher E M, Robinson M S, Gorin M B, Swank R T. 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 Molec Genet. 8:1999;23-330.
14. Oh J, Ho L, Ala-Mello S, Amato D, Armstrong L, Bellucci S, Carakushansky G, Ellis J P, Fong C-T, Green J S, Heon E, Legius E, Levin A V, Nieuwenhuis H K, Pinckers A, Tamura N, Whiteford M L, Yamasaki H, Spritz R A. Mutation analysis of patients with Hermansky-Pudlak syndrome: A frameshift hot spot in the HPS gene and apparent locus heterogeneity. Am J Hum Genet. 62:1998;593-598.
15. Dell'Angelica E C, Shotelersuk V, Aguilar R C, Gahl W A, Bonifacino J S. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the β3A subunit of the AP-3 adaptor. Molec Cell. 3:1999;11-21.
16. Robins M S. Coats and vesicle budding. Trends Cell Biol. 7:1997;99-102.
17. Kirchhausen T K, Bonifacino J S, Riezman H. Linking cargo to vesicle formation: receptor tail interactions with coat proteins. Curr Opin Cell Biol. 9:1997;488-495.
18. Odorizzi G, Cowles C R, Emr S D. The AP-3 complex: A coat of many colours. Trends Cell Biol. 8:1998;282-288.
19. Faúndez V, Horng J-T, Kelly R B. A function of the AP3 coat complex in synaptic vesicle formation from endosomes. Cell. 93:1998;423-432.
20. Lemons P P, Chen D, Bernstein A M, Bennett M K, Whiteheart S W. Regulated secretion in platelets: Identification of elements of the platelet exocytosis machinery. Blood. 90:1997;1490-1500.
21. Chen, D, Bernstein, A, M, Lemmons, P, P, Whiteheart, S, W, Molecular mechanisms of platelet exocytosis: Role of SNAP-23 and syntaxin 2 in dense core release. Submitted for publication.
22. Flaumenhaft R, Croce K, Chen E, Furie B, Furie B C. Proteins of the exocytotic core complex mediate platelet α-granule secretion. J Biol Chem. 274:1999;2492-2501.
23. Reed G L, Houng A K, Fitzgerald M L. Human platelets contain SNARE proteins and a Sec1p homologue that interacts with syntaxin 4 and is phosphorylated after thrombin activation: Implications for platelet secretion. Blood. 93:1999;2617-2626.
24. Swank R T, Reddington M, Howlett O, Novak E K. Platelet storage pool deficiency associated with inherited abnormalities of the inner ear in the mouse pigment mutants muted and mocha. Blood. 78:1991;2036-2044.
25. Lowry O H, Rosebrough N J, Farr A L, Randall R J. Protein measurement with the folin phenol reagent. J Biol Chem. 193:1951;265-275.
26. Laemmli U K. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature. 227:1970;680-685.
27. Towbin H, Staehelin T, Gordon J. Electrophoretic transfer for proteins from polyacrylamide gels to nitrocellulose sheets: Procedure and some applications. Proc Natl Acad Sci USA. 76:1979;4350-4354.
28. Guo Z, Turner C, Castle D. Relocation of the t-SNARE SNAP-23 from lamellipodia-like cell surface projections regulates compound exocytosis in mast cells. Cell. 94:1998;537-548.
29. Brand S H, Laurie S M, Mixon M B, Castle J D. Secretory carrier membrane proteins 31-35 define a common protein composition among secretory carrier membranes. J Biol Chem. 266:1991;18949-18957.
30. Singleton D R, Wu T T, Castle J D. Three mammalian SCAMPs (secretory carrier membrane proteins) are highly related products of distinct genes having similar subcellular distributions. J Cell Sci. 110:1997;2099-2107.
31. Bao X, Jang E, Haslam R J. Molecular cloning of two novel Rab proteins from human platelets. FASEB J. 10:1996;A-1011.
32. Bao X, Faris A E, Haslam R J. Cloning, tissue distribution and bacterial expression of human Rab31 and Rab32. Molec Biol Cell. 8:1997;199a.
33. Lemons, P, P, Chen, D, Bernstein, A, M, Englea, M, G, Maley, B, E, Whiteheart, S, W, Molecular mechanisms of platelet exocytosis: The distribution and function of Munc18c. Submitted for publication.
34. Whiteheart S W, Rossnagel K, Buhrow S A, Brunner M, Jaenicke R, Rothman J E. N-ethylmaleimide-sensitive fusion protein: A trimeric ATPase whose hydrolysis of ATP is required for membrane fusion. J Cell Biol. 126:1994;945-954.
35. Ravichandran V, Chawla A, Roche P A. Identification of a novel syntaxin- and synaptobrevin/VAMP-binding protein, SNAP-23, expressed in non-neuronal tissues. J Biol Chem. 271:1996;13300-13303.
36. Taylor B A, Rowe L B. Genes for serum amyloid A proteins map to chromosome 7 in the mouse. Molec Gen Genet. 195:1984;491-499.
37. Rowe L B, Nadeau J H, Turner R, Frankel W N, Letts V A, Eppig J T, Ko M SH, Thurston S J, Birkenmeier E H. Maps from two interspecific backcross DNA panels available as a community genetic mapping resource. Mamm Genome. 5:1994;253-274.
38. Church G M, Gilbert W. Genomic sequencing. Proc Natl Acad Sci USA. 81:1984;1991-1995.
39. Manly K F. A Macintosh program for storage and analysis of experimental genetic mapping data. Mann Genome. 4:1993;303-313.
40. Mollinedo F, Lazo P A. Identification of two isoforms of the vesicle-membrane fusion protein SNAP-23 in human neutrophils and HL-60 cells. Biochem Biophys Res Commun. 231:1997;808-812.
41. Huppi K, Siwarski D, Pisegna J R, Wank S. Chromosomal localization of the gastric and brain receptors for cholecystokinin (CCKAR and CCKBR) in human and mouse. Genomics. 25:1995;727-729.
42. Samuelson L C, Isakoff M S, Lacourse K A. Localization of the murine cholecystokinin A and B receptor genes. Mamm Genome. 6:1995;242-246.
43. Söllner T, Whiteheart S W, Brunner M, Erdjument-Bromage H, Geromanos S, Tempst P, Rothman J E. SNAP receptors implicated in vesicle targetting and fusion. Nature. 362:1993;18-324.
44. Calakos N, Bennett M K, Peterson K E, Scheller R H. Protein-protein interactions contributing to the specificity of intracellular vesicular trafficking. Science. 263:1994;1146-1149.
45. Pevsner J, Hsu S C, Braun J E, Calakos N, Ting A E, Bennett M K, Scheller R H. Specificity and regulation of a synaptic vesicle docking complex. Neuron. 13:1994;353-361.
46. White J G. Structural defects in inherited and giant platelet disorders. Adv Hum Genet. 19:1990;133-234.
47. Weiss H J, Witte L D, Kaplan K L, Lages B A, Chernoff A, Nossel H L, Goodman D S, Baumgartner H R. Heterogeneity in storage pool deficiency: studies on granule-bound substances in 18 patients including variants deficient in α-granules, platelet factor 4,β-thromboglobulin and platelet-derived growth factor. Blood. 54:1979;1296-1319.
48. Jackson C W, Hutson N K, Steward S A, Saito N, Cramer E M. Platelets of the Wistar Furth rat have reduced levels of alpha-granule proteins. J Clin Invest. 87:1991;1985-1991.
49. Martinez O, Goud B. Rab proteins. Biochim Biophys Acta. 1404:1998;101-112.
50. Urbe S, Huber L A, Zerial M, Tooze S A, Parton R G. Rab11, a small GTPase associated with both constitutive and regulated secretory pathways in PC12 cells. FEBS Lett. 334:1993;175-182.
51. Chen D, Guo J, Miki T, Tachibana M, Gahl W A. Molecular cloning of two novel rab genes from human melanocytes. Gene. 174:1996;129-134.
52. Moore I, Schell J, Palme K. Subclass-specific sequence motifs identified in rab GTPases. Trends Biochem Sci. 20:1995;10-12.
53. Woodman, P, G. The roles of NSF, SNAPs and SNAREs during membrane fusioin. Biochem Biophys Acta1357:155-172.