Abnormal megakaryocyte development and platelet function in Nbeal2-/- mice

Blood

Volumn 122, Issue 19, 2013, Pages 3349-3358

  Kahr, Walter H A ^a,b   Lo, Richard W ^a,b   Li, Ling ^b   Pluthero, Fred G ^b   Christensen, Hilary ^b   Ni, Ran ^d   Vaezzadeh, Nima ^d   Hawkins, Cynthia E ^b,e   Weyrich, Andrew S ^f   Di Paola, Jorge ^g   Landolt Marticorena, Carolina ^c   Gross, Peter L ^d  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

^d MCMASTER UNIVERSITY   (Canada)

^e UNIVERSITY OF TORONTO   (Canada)

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

^g Children's Hospital Colorado   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN; GLYCERALDEHYDE 3 PHOSPHATE DEHYDROGENASE; NEUROBEACHIN LIKE 2 PROTEIN; PADGEM PROTEIN; PEPTIDES AND PROTEINS; THROMBOCYTE FACTOR 4; THROMBOSPONDIN 1; UNCLASSIFIED DRUG; VON WILLEBRAND FACTOR; CARRIER PROTEIN; ISOPROTEIN; NBEAL2 PROTEIN, HUMAN; NBEAL2 PROTEIN, MOUSE; PLASMA PROTEIN;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BIOGENESIS; BLEEDING; BLOOD ANALYSIS; CELL LYSATE; CELL MATURATION; CELL SURVIVAL; CONTROLLED STUDY; FEMALE; FLOW CYTOMETRY; GRAY PLATELET SYNDROME; IN VITRO STUDY; IN VIVO STUDY; MALE; MEGAKARYOCYTE; MOUSE; NONHUMAN; OOCYTE; PLOIDY; PRIORITY JOURNAL; PROTEIN CONTENT; PROTEIN EXPRESSION; SPERMATOZOON; SPLENOMEGALY; THROMBOCYTE ACTIVATION; THROMBOCYTE AGGREGATION; THROMBOCYTE COUNT; THROMBOCYTE FUNCTION; THROMBOCYTE STRUCTURE; THROMBOCYTOPENIA; THROMBOCYTOPOIESIS; ANIMAL; BONE MARROW; CELL DIFFERENTIATION; CELL GRANULE; DEFICIENCY; DISEASE MODEL; GENE EXPRESSION; GENETICS; KNOCKOUT MOUSE; METABOLISM; PATHOLOGY; THROMBOCYTE;

ANIMALS; BLOOD PLATELETS; BLOOD PROTEINS; BONE MARROW; CARRIER PROTEINS; CELL DIFFERENTIATION; CYTOPLASMIC GRANULES; DISEASE MODELS, ANIMAL; FEMALE; GENE EXPRESSION; GRAY PLATELET SYNDROME; MALE; MEGAKARYOCYTES; MICE; MICE, KNOCKOUT; P-SELECTIN; PLATELET AGGREGATION; PLATELET FACTOR 4; PROTEIN ISOFORMS; THROMBOSPONDIN 1; VON WILLEBRAND FACTOR;

EID: 84888259990     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2013-04-499491     Document Type: Article

References (43)

1. Italiano JE Jr, Lecine P, Shivdasani RA, Hartwig JH. Blood platelets are assembled principally at the ends of proplatelet processes produced by differentiated megakaryocytes. J Cell Biol. 1999; 147(6):1299-1312.
2. Patel SR, Hartwig JH, Italiano JE Jr. The biogenesis of platelets from megakaryocyte proplatelets. J Clin Invest. 2005;115(12):3348-3354.
3. Junt T, Schulze H, Chen Z, et al. Dynamic visualization of thrombopoiesis within bone marrow. Science. 2007;317(5845):1767-1770.
4. Coppinger JA, Cagney G, Toomey S, et al. Characterization of the proteins released from activated platelets leads to localization of novel platelet proteins in human atherosclerotic lesions. Blood. 2004;103(6):2096-2104.
5. Blair P, Flaumenhaft R. Platelet alpha-granules: basic biology and clinical correlates. Blood Rev. 2009;23(4):177-189.
6. Heijnen HF, Debili N, Vainchencker W, Breton-Gorius J, Geuze HJ, Sixma JJ. Multivesicular bodies are an intermediate stage in the formation of platelet alpha-granules. Blood. 1998;91(7): 2313-2325.
7. Richardson JL, Shivdasani RA, Boers C, Hartwig JH, Italiano JE Jr. Mechanisms of organelle transport and capture along proplatelets during platelet production. Blood. 2005;106(13): 4066-4075.
8. Huizing M, Helip-Wooley A, Westbroek W, Gunay-Aygun M, Gahl WA. Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Annu Rev Genomics Hum Genet. 2008;9:359-386.
9. Li W, Rusiniak ME, Chintala S, Gautam R, Novak EK, Swank RT. Murine Hermansky-Pudlak syndrome genes: regulators of lysosome-related organelles. Bioessays. 2004;26(6):616-628.
10. Wei ML. Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function. Pigment Cell Res. 2006;19(1):19-42.
11. Kaplan J, De Domenico I, Ward DM. Chediak-Higashi syndrome. Curr Opin Hematol. 2008; 15(1):22-29.
12. Lo B, Li L, Gissen P, et al. Requirement of VPS33B, a member of the Sec1/Munc18 protein family, in megakaryocyte and platelet α-granule biogenesis. Blood. 2005;106(13):4159-4166.
13. Urban D, Li L, Christensen H, et al. The VPS33B-binding protein VPS16B is required in megakaryocyte and platelet α-granule biogenesis. Blood. 2012;120(25):5032-5040.
14. Fabbro S, Kahr WH, Hinckley J, et al. Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly. Blood. 2011;117(12):3430-3434.
15. Kahr WH, Hinckley J, Li L, et al. Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. Nat Genet. 2011;43(8): 738-740.
16. Gunay-Aygun M, Zivony-Elboum Y, Gumruk F, et al. Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. Blood. 2010;116(23): 4990-5001.
17. Albers CA, Cvejic A, Favier R, et al. Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. Nat Genet. 2011; 43(8):735-737.
18. Gunay-Aygun M, Falik-Zaccai TC, Vilboux T, et al. NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules. Nat Genet. 2011;43(8):732-734.
19. Nurden AT, Nurden P. The gray platelet syndrome: clinical spectrum of the disease. Blood Rev. 2007;21(1):21-36.
20. White JG. Ultrastructural studies of the gray platelet syndrome. Am J Pathol. 1979;95(2): 445-462.
21. Graham GJ, Ren Q, Dilks JR, Blair P, Whiteheart SW, Flaumenhaft R. Endobrevin/VAMP-8-dependent dense granule release mediates thrombus formation in vivo. Blood. 2009;114(5): 1083-1090.
22. Pujol-Moix N, Hernández A, Escolar G, Español I, Martínez-Brotóns F, Mateo J. Platelet ultrastructural morphometry for diagnosis of partial delta-storage pool disease in patients with mild platelet dysfunction and/or thrombocytopenia of unknown origin. A study of 24 cases. Haematologica. 2000;85(6):619-626.
23. Zucker-Franklin D. Megakaryocyte and platelet structure in thrombocytopoiesis: the effect of cytokines. Stem Cells. 1996;14(suppl 1):1-17.
24. Schulze H. Culture of murine megakaryocytes and platelets from fetal liver and bone marrow. Methods Mol Biol. 2012;788:193-203.
25. Cramer EM, Vainchenker W, Vinci G, Guichard J, Breton-Gorius J. Gray platelet syndrome: immunoelectron microscopic localization of fibrinogen and von Willebrand factor in platelets and megakaryocytes. Blood. 1985;66(6): 1309-1316.
26. Corash L. The relationship between megakaryocyte ploidy and platelet volume. Blood Cells. 1989;15(1):81-107.
27. White JG, Kumar A, Hogan MJ. Gray platelet syndrome in a Somalian family. Platelets. 2006; 17(8):519-527.
28. Rosa JP, George JN, Bainton DF, Nurden AT, Caen JP, McEver RP. Gray platelet syndrome. Demonstration of alpha granule membranes that can fuse with the cell surface. J Clin Invest. 1987; 80(4):1138-1146.
29. Lages B, Sussman II, Levine SP, Coletti D, Weiss HJ. Platelet alpha granule deficiency associated with decreased P-selectin and selective impairment of thrombin-induced activation in a new patient with gray platelet syndrome (alphastorage pool deficiency). J Lab Clin Med. 1997; 129(3):364-375.
30. Levy-Toledano S, Caen JP, Breton-Gorius J, et al. Gray platelet syndrome: alpha-granule deficiency. Its influence on platelet function. J Lab Clin Med. 1981;98(6):831-848.
31. Falik-Zaccai TC, Anikster Y, Rivera CE, et al. A new genetic isolate of gray platelet syndrome (GPS): clinical, cellular, and hematologic characteristics. Mol Genet Metab. 2001;74(3): 303-313.
32. Khodosh R, Augsburger A, Schwarz TL, Garrity PA. Bchs, a BEACH domain protein, antagonizes Rab11 in synapse morphogenesis and other developmental events. Development. 2006; 133(23):4655-4665.
33. Kypri E, Schmauch C, Maniak M, De Lozanne A. The BEACH protein LvsB is localized on lysosomes and postlysosomes and limits their fusion with early endosomes. Traffic. 2007;8(6): 774-783.
34. Shiflett SL, Vaughn MB, Huynh D, Kaplan J, Ward DM. Bph1p, the Saccharomyces cerevisiae homologue of CHS1/beige, functions in cell wall formation and protein sorting. Traffic. 2004;5(9): 700-710.
35. Ward DM, Shiflett SL, Huynh D, Vaughn MB, Prestwich G, Kaplan J. Use of expression constructs to dissect the functional domains of the CHS/beige protein: identification of multiple phenotypes. Traffic. 2003;4(6):403-415.
36. Gould WR, Simioni P, Silveira JR, Tormene D, Kalafatis M, Tracy PB. Megakaryocytes endocytose and subsequently modify human factor V in vivo to form the entire pool of a unique platelet-derived cofactor. J Thromb Haemost. 2005;3(3):450-456.
37. Bowie EJ, Solberg LA Jr, Fass DN, et al. Transplantation of normal bone marrow into a pig with severe von Willebrand's disease. J Clin Invest. 1986;78(1):26-30.
38. Morowski M, Vögtle T, Kraft P, Kleinschnitz C, Stoll G, Nieswandt B. Only severe thrombocytopenia results in bleeding and defective thrombus formation in mice. Blood. 2013;121(24):4938-4947.
39. Kahr WH, Savoia A, Pluthero FG, et al. Megakaryocyte and platelet abnormalities in a patient with a W33C mutation in the conserved SH3-like domain of myosin heavy chain IIA. Thromb Haemost. 2009;102(6):1241-1250.
40. Thon JN, Italiano JE Jr. Does size matter in platelet production? Blood. 2012;120(8): 1552-1561.
41. White JG, Sauk JJ. The organization of microtubules and microtubule coils in giant platelet disorders. Am J Pathol. 1984;116(3): 514-522.
42. Sadler JE. von Willebrand factor assembly and secretion. J Thromb Haemost. 2009;7(suppl 1): 24-27.
43. Valentijn KM, Sadler JE, Valentijn JA, Voorberg J, Eikenboom J. Functional architecture of Weibel-Palade bodies. Blood. 2011;117(19):5033-5043.