New protocol to optimize iPS cells for genome analysis of fibrodysplasia ossificans progressiva

Stem Cells

Volumn 33, Issue 6, 2015, Pages 1730-1742

  Matsumoto, Yoshihisa ^a,b,c   Ikeya, Makoto ^b   Hino, Kyosuke ^b,d   Horigome, Kazuhiko ^b,d   Fukuta, Makoto ^a,b,c   Watanabe, Makoto ^b,e   Nagata, Sanae ^b   Yamamoto, Takuya ^b,f   Otsuka, Takanobu ^c   Toguchida, Junya ^a,b,g  

^a KYOTO UNIVERSITY   (Japan)

^b KYOTO UNIVERSITY   (Japan)

^c NAGOYA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCES   (Japan)

^d DAINIPPON SUMITOMO PHARMA CO LTD   (Japan)

^e SHIMADZU CORPORATION   (Japan)

^f KYOTO UNIVERSITY   (Japan)

^g KYOTO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Endochondral ossification; Fibrodysplasia ossificans progressiva; Gene correction; Heterotopic ossification; Induced mesenchymal stromal cells; Induced pluripotent stem cell

Indexed keywords

ARTICLE; CELL CULTURE; CELL SELECTION; CHONDROGENESIS; CLINICAL PROTOCOL; CONTROLLED STUDY; DRUG DEVELOPMENT; ELECTROPORATION; ENCHONDRAL OSSIFICATION; GENE EXPRESSION; GENOME ANALYSIS; HOMOLOGOUS RECOMBINATION; HUMAN; HUMAN CELL; IN VITRO STUDY; MARKER GENE; MESENCHYMAL STROMA CELL; NEURAL CREST CELL; OSSIFICATION; OSSIFYING MYOSITIS; PLURIPOTENT STEM CELL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; WESTERN BLOTTING; BONE DEVELOPMENT; CELL DIFFERENTIATION; CELL LINEAGE; CYTOLOGY; GENE EXPRESSION REGULATION; GENETICS; HUMAN GENOME; METABOLISM; MYOSITIS OSSIFICANS; PHYSIOLOGY;

IPS;

ACTIVIN RECEPTOR 1;

ACTIVIN RECEPTORS, TYPE I; CELL DIFFERENTIATION; CELL LINEAGE; CHONDROGENESIS; GENE EXPRESSION REGULATION; GENOME, HUMAN; HUMANS; INDUCED PLURIPOTENT STEM CELLS; MYOSITIS OSSIFICANS; OSTEOGENESIS;

EID: 84929832811     PISSN: 10665099     EISSN: 15494918     Source Type: Journal    
DOI: 10.1002/stem.1981     Document Type: Article

References (38)

1. Kaplan FS, Chakkalakal SA, Shore EM,. Fibrodysplasia ossificans progressiva: Mechanisms and models of skeletal metamorphosis. Dis Model Mech 2012; 5: 756-762.
2. Shore EM, Kaplan FS,. Inherited human diseases of heterotopic bone formation. Nat Rev Rheumatol 2010; 6: 518-527.
3. Shore EM, Xu M, Feldman GJ, et al., A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nat Genet 2006; 38: 525-527.
4. Urist MR,. Bone: Formation by autoinduction. Science 1965; 150: 893-899.
5. Wozney JM, Rosen V, Celeste AJ, et al., Novel regulators of bone formation: Molecular clones and activities. Science 1988; 242: 1528-1534.
6. Bagarova J, Vonner AJ, Armstrong KA, et al., Constitutively active ALK2 receptor mutants require type II receptor cooperation. Mol Cell Biol 2013; 33: 2413-2424.
7. Fukuda T, Kohda M, Kanomata K, et al., Constitutively activated ALK2 and increased SMAD1/5 cooperatively induce bone morphogenetic protein signaling in fibrodysplasia ossificans progressiva. J Biol Chem 2009; 284: 7149-7156.
8. Ohte S, Shin M, Sasanuma H, et al., A novel mutation of ALK2, L196P, found in the most benign case of fibrodysplasia ossificans progressiva activates BMP-specific intracellular signaling equivalent to a typical mutation, R206H. Biochem Biophys Res Commun 2011; 407: 213-218.
9. Shen Q, Little SC, Xu M, et al., The fibrodysplasia ossificans progressiva R206H ACVR1 mutation activates BMP-independent chondrogenesis and zebrafish embryo ventralization. J Clin Invest 2009; 119: 3462-3472.
10. Song GA, Kim HJ, Woo KM, et al., Molecular consequences of the ACVR1(R206H) mutation of fibrodysplasia ossificans progressiva. J Biol Chem 2010; 285: 22542-22553.
11. van Dinther M, Visser N, de Gorter DJ, et al., ALK2 R206H mutation linked to fibrodysplasia ossificans progressiva confers constitutive activity to the BMP type I receptor and sensitizes mesenchymal cells to BMP-induced osteoblast differentiation and bone formation. J Bone Miner Res 2010; 25: 1208-1215.
12. Ahn J, Serrano, de la Pena L, Shore EM, et al., Paresis of a bone morphogenetic protein-antagonist response in a genetic disorder of heterotopic skeletogenesis. J Bone Joint Surg Am 2003; 85-A: 667-674.
13. de la Pena LS, Billings PC, Fiori JL, et al., Fibrodysplasia ossificans progressiva (FOP), a disorder of ectopic osteogenesis, misregulates cell surface expression and trafficking of BMPRIA. J Bone Miner Res 2005; 20: 1168-1176.
14. Fiori JL, Billings PC, de la Pena LS, et al., Dysregulation of the BMP-p38 MAPK signaling pathway in cells from patients with fibrodysplasia ossificans progressiva (FOP). J Bone Miner Res 2006; 21: 902-909.
15. Shafritz AB, Shore EM, Gannon FH, et al., Overexpression of an osteogenic morphogen in fibrodysplasia ossificans progressiva. N Engl J Med 1996; 335: 555-561.
16. Billings PC, Fiori JL, Bentwood JL, et al., Dysregulated BMP signaling and enhanced osteogenic differentiation of connective tissue progenitor cells from patients with fibrodysplasia ossificans progressiva (FOP). J Bone Miner Res 2008; 23: 305-313.
17. Matsumoto Y, Hayashi Y, Schlieve CR, et al., Induced pluripotent stem cells from patients with human fibrodysplasia ossificans progressiva show increased mineralization and cartilage formation. Orphanet J Rare Dis 2013; 8: 190.
18. Lounev VY, Ramachandran R, Wosczyna MN, et al., Identification of progenitor cells that contribute to heterotopic skeletogenesis. J Bone Joint Surg Am 2009; 91: 652-663.
19. Medici D, Shore EM, Lounev VY, et al., Conversion of vascular endothelial cells into multipotent stem-like cells. Nat Med 2010; 16: 1400-1406.
20. Wosczyna MN, Biswas AA, Cogswell CA, et al., Multipotent progenitors resident in the skeletal muscle interstitium exhibit robust BMP-dependent osteogenic activity and mediate heterotopic ossification. J Bone Miner Res 2012; 27: 1004-1017.
21. Uezumi A, Fukada S, Yamamoto N, et al., Mesenchymal progenitors distinct from satellite cells contribute to ectopic fat cell formation in skeletal muscle. Nat Cell Biol 2010; 12: 143-152.
22. Le Douarin NM, Dupin E,. Multipotentiality of the neural crest. Curr Opin Genet Dev 2003; 13: 529-536.
23. Neirinckx V, Coste C, Rogister B, et al., Concise review: Adult mesenchymal stem cells, adult neural crest stem cells, and therapy of neurological pathologies: A state of play. Stem Cells Transl Med 2013; 2: 284-296.
24. Fukuta M, Nakai Y, Kirino K, et al., Derivation of mesenchymal stromal cells from pluripotent stem cells through a neural crest lineage using small molecule compounds with defined media. PLoS One 2014; 9: e112291.
25. Ikeya M, Kawada M, Nakazawa Y, et al., Gene disruption/knock-in analysis of mONT3: Vector construction by employing both in vivo and in vitro recombinations. Int J Dev Biol 2005; 49: 807-823.
26. Mae S, Shono A, Shiota F, et al., Monitoring and robust induction of nephrogenic intermediate mesoderm from human pluripotent stem cells. Nat Commun 2013; 4: 1367.
27. Umeda K, Zhao J, Simmons P, et al., Human chondrogenic paraxial mesoderm, directed specification and prospective isolation from pluripotent stem cells. Sci Rep 2012; 2: 455.
28. Nasu A, Ikeya M, Yamamoto T, et al., Genetically matched human iPS cells reveal that propensity for cartilage and bone differentiation differs with clones, not cell type of origin. PLoS One 2013; 8: e53771.
29. Dennler S, Itoh S, Vivien D, et al., Direct binding of Smad3 and Smad4 to critical TGF beta-inducible elements in the promoter of human plasminogen activator inhibitor-type 1 gene. EMBO J 1998; 17: 3091-3100.
30. Korchynskyi O, ten Dijke P,. Identification and functional characterization of distinct critically important bone morphogenetic protein-specific response elements in the Id1 promoter. J Biol Chem 2002; 277: 4883-4891.
31. Hamasaki M, Hashizume Y, Yamada Y, et al., Pathogenic mutation of ALK2 inhibits induced pluripotent stem cell reprogramming and maintenance: Mechanisms of reprogramming and strategy for drug identification. Stem Cells 2012; 30: 2437-2449.
32. Imai K, Dalal SS, Hambor J, et al., Bone growth retardation in mouse embryos expressing human collagenase 1. Am J Physiol Cell Physiol 2007; 293: C1209-1215.
33. Kawao N, Tamura Y, Okumoto K, et al., Plasminogen plays a crucial role in bone repair. J Bone Miner Res 2013; 28: 1561-1574.
34. Nordstrom SM, Carleton SM, Carson WL, et al., Transgenic over-expression of plasminogen activator inhibitor-1 results in age-dependent and gender-specific increases in bone strength and mineralization. Bone 2007; 41: 995-1004.
35. Rundle CH, Wang X, Wergedal JE, et al., Fracture healing in mice deficient in plasminogen activator inhibitor-1. Calcif Tissue Int 2008; 83: 276-284.
36. Culbert AL, Chakkalakal SA, Theosmy EG, et al., Alk2 regulates early chondrogenic fate in fibrodysplasia ossificans progressiva heterotopic endochondral ossification. Stem Cells 2014; 32: 1289-1300.
37. Fukuda T, Kanomata K, Nojima J, et al., A unique mutation of ALK2, G356D, found in a patient with fibrodysplasia ossificans progressiva is a moderately activated BMP type I receptor. Biochem Biophys Res Commun 2008; 377: 905-909.
38. Chakkalakal SA, Zhang D, Culbert AL, et al., An Acvr1 R206H knock-in mouse has fibrodysplasia ossificans progressiva. J Bone Miner Res 2012; 27: 1746-1756.