Mouse models of MYH9-related disease: Mutations in nonmuscle myosin II-A

Blood

Volumn 119, Issue 1, 2012, Pages 238-250

  Zhang, Yingfan ^a   Conti, Mary Anne ^a   Malide, Daniela ^a   Dong, Fan ^b   Wang, Aibing ^a   Shmist, Yelena A ^a   Liu, Chengyu ^a   Zerfas, Patricia ^c   Daniels, Mathew P ^a   Chan, Chi Chao ^d   Kozin, Elliot ^e   Kachar, Bechara ^e   Kelley, Michael J ^b,f   Kopp, Jeffrey B ^g   Adelstein, Robert S ^a  

^a NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

^c Division of Veterinary Resources   (United States)

^d NATIONAL EYE INSTITUTE   (United States)

^e NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

^f DURHAM VA MEDICAL CENTER   (United States)

^g NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GREEN FLUORESCENT PROTEIN; MYOSIN IIA;

ALBUMINURIA; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BLEEDING TIME; BLOOD CLOT RETRACTION; CATARACTOGENESIS; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; EMBRYO; EXON; FEMALE; FOCAL GLOMERULOSCLEROSIS; GENE MUTATION; GENETIC CODE; HEARING LOSS; IN VITRO STUDY; MALE; MEGAKARYOCYTE; MOUSE; NONHUMAN; PRIORITY JOURNAL; THROMBOCYTOPENIA;

EID: 84862908887     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2011-06-358853     Document Type: Article

References (35)

1. Heath KE, Campos-Barros A, Toren A, et al. Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. Am J Hum Genet. 2001;69(5):1033-1045. (Pubitemid 33015818)
2. Kelley MJ, Jawien W, Ortel TL, Korczak JF. Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. Nat Genet. 2000;26(1):106-108.
3. Seri M, Cusano R, Gangarossa S, et al. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. Nat Genet. 2000;26(1):103-105.
4. Seri M, Pecci A, Di Bari F, et al. MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. Medicine (Baltimore). 2003;82(3):203-215. (Pubitemid 36578709)
5. Conti MA, Adelstein RS. Nonmuscle myosin II moves in new directions. J Cell Sci. 2008;121(Pt 1):11-18. (Pubitemid 351265698)
6. Niederman R, Pollard TD. Human platelet myosin, II: in vitro assembly and structure of myosin filaments. J Cell Biol. 1975;67(1):72-92.
7. Vicente-Manzanares M, Ma X, Adelstein RS, Horwitz AR. Non-muscle myosin II takes centre stage in cell adhesion and migration. Nat Rev Mol Cell Biol. 2009;10(11):778-790.
8. Kunishima S, Saito H. Advances in the understanding of MYH9 disorders. Curr Opin Hematol. 2010;17(5):405-410.
9. Murakami N, Mehta P, Elzinga M. Studies on the distribution of cellular myosin with antibodies to isoform-specific synthetic peptides. FEBS Lett. 1991;288(1-2):247.
10. Balduini CL, Pecci A, Savoia A. Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias. Br J Haematol. 2011;154(2):161-174.
11. Hu A, Wang F, Sellers JR. Mutations in human nonmuscle myosin IIA found in patients with May-Hegglin anomaly and Fechtner syndrome result in impaired enzymatic function. J Biol Chem. 2002;277(48):46512-46517. (Pubitemid 35417648)
12. Franke JD, Dong F, Rickoll WL, Kelley MJ, Kiehart DP. Rod mutations associated with MYH9-related disorders disrupt nonmuscle myosin-IIA assembly. Blood. 2005;105(1):161-169. (Pubitemid 40053078)
13. Adams DJ, Quail MA, Cox T, et al. A genomewide, end-sequenced 129Sv BAC library resource for targeting vector construction. Genomics. 2005;86(6):753-758. (Pubitemid 41752956)
14. Jacobelli J, Friedman RS, Conti MA, et al. Confinement-optimized three-dimensional T cell amoeboid motility is modulated via myosin IIA-regulated adhesions. Nat Immunol. 2010;11(10):953-961.
15. Moeller MJ, Sanden SK, Soofi A, Wiggins RC, Holzman LB. Podocyte-specific expression of cre recombinase in transgenic mice. Genesis. 2003;35(1):39-42. (Pubitemid 36150980)
16. Takaku T, Malide D, Chen J, Calado RT, Kajigaya S, Young NS. Hematopoiesis in 3 dimensions: human and murine bone marrow architecture visualized by confocal microscopy. Blood. 2010;116(15):e41-e55.
17. Szabova L, Son MY, Shi J, et al. Membrane-type MMPs are indispensable for placental labyrinth formation and development. Blood. 2010;116(25):5752-5761.
18. 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. (Pubitemid 30012814)
19. Thon JN, Montalvo A, Patel-Hett S, et al. Cytoskeletal mechanics of proplatelet maturation and platelet release. J Cell Biol. 2010;191(4):861-874.
20. Thon JN, Italiano JE. Platelet formation. Semin Hematol. 2010;47(3):220-226.
21. Junt T, Schulze H, Chen Z, et al. Dynamic visualization of thrombopoiesis within bone marrow. Science. 2007;317(5845):1767-1770. (Pubitemid 47461844)
22. Pecci A, Noris P, Invernizzi R, et al. Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders. Br J Haematol. 2002;117(1):164-167. (Pubitemid 34304437)
23. Kopp JB. Glomerular pathology in autosomal dominant MYH9 spectrum disorders: what are the clues telling us about disease mechanism? Kidney Int. 2010;78(2):130-133.
24. Sekine T, Konno M, Sasaki S, et al. Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease. Kidney Int. 2010;78(2):207-214.
25. Eckly A, Strassel C, Freund M, et al. Abnormal megakaryocyte morphology and proplatelet formation in mice with megakaryocyte-restricted MYH9 inactivation. Blood. 2009;113(14):3182-3189.
26. Chang Y, Aurade F, Larbret F, et al. Proplatelet formation is regulated by the Rho/ROCK pathway. Blood. 2007;109(10):4229-4236. (Pubitemid 46743387)
27. Chen Z, Naveiras O, Balduini A, et al. The May-Hegglin anomaly gene MYH9 is a negative regulator of platelet biogenesis modulated by the Rho-ROCK pathway. Blood. 2007;110(1):171-179. (Pubitemid 47026832)
28. Leon C, Eckly A, Hechler B, et al. Megakaryocyte-restricted MYH9 inactivation dramatically affects hemostasis while preserving platelet aggregation and secretion. Blood. 2007;110(9):3183-3191. (Pubitemid 350106310)
29. Ma X, Bao J, Adelstein RS. Loss of cell adhesion causes hydrocephalus in nonmuscle myosin II-B-ablated and mutated mice. Mol Biol Cell. 2007;18(6):2305-2312. (Pubitemid 46911380)
30. Johnstone DB, Zhang J, George B, et al. Podocyte-specific deletion of Myh9 encoding nonmuscle myosin heavy chain 2A predisposes mice to glomerulopathy. Mol Cell Biol. 2011;31(10):2162-2170.
31. Ma LJ, Fogo AB. Model of robust induction of glomerulosclerosis in mice: importance of genetic background. Kidney Int. 2003;64(1):350-355. (Pubitemid 36714190)
32. Barisoni L, Schnaper HW, Kopp JB. Advances in the biology and genetics of the podocytopathies: implications for diagnosis and therapy. Arch Pathol Lab Med. 2009;133(2):201-216.
33. Conti MA, Even-Ram S, Liu C, Yamada KM, Adelstein RS. Defects in cell adhesion and the visceral endoderm following ablation of nonmuscle myosin heavy chain II-A in mice. J Biol Chem. 2004;279(40):41263-41266. (Pubitemid 39313562)
34. Matsushita T, Hayashi H, Kunishima S, et al. Targeted disruption of mouse ortholog of the human MYH9 responsible for macrothrombocytopenia with different organ involvement: hematological, nephrological, and otological studies of heterozygous KO mice. Biochem Biophys Res Commun. 2004;325(4):1163-1171. (Pubitemid 39535885)
35. Poopak B, Rezvani H, Difeo A, et al. The first report of homozygous May-Hegglin anomaly E1841K mutation. Eur J Haematol. 2011;86(4):357.