The Bmp pathway in skull vault development

Frontiers of Oral Biology

Volumn 12, Issue , 2008, Pages 197-208

  Maxson, Robert ^a   Ishii, Mamoru ^a  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BONE MORPHOGENETIC PROTEIN; CARRIER PROTEIN; NOGGIN PROTEIN;

CRANIAL SUTURE; CRANIOFACIAL SYNOSTOSIS; CYSTINE KNOT MOTIF; DRUG ANTAGONISM; FRONTAL BONE; GENETICS; GROWTH, DEVELOPMENT AND AGING; HUMAN; MESODERM; MUTATION; NEURAL CREST; PHYSIOLOGY; REVIEW; SKULL;

BONE MORPHOGENETIC PROTEINS; CARRIER PROTEINS; CRANIAL SUTURES; CRANIOSYNOSTOSES; CYSTINE KNOT MOTIFS; FRONTAL BONE; HUMANS; MESODERM; MUTATION; NEURAL CREST; PARIETAL BONE; SKULL;

EID: 45849108030     PISSN: 14202433     EISSN: 16623770     Source Type: Book Series    
DOI: 10.1159/000115042     Document Type: Article

References (75)

1. Cohen MM Jr, MacLean RE: Craniosynostosis: Diagnosis, Evaluation, and Management, ed 2. New York, Oxford University Press, 2000.
2. Wilkie AO: Craniosynostosis: genes and mechanisms. Hum Mol Genet 1997;6:1647-1656. (Pubitemid 27401607)
3. Wilkie AO, Tang Z, Elanko N, et al: Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification. Nat Genet 2000;24:387-390. (Pubitemid 30187438)
4. Couly GF, Coltey PM, Le Douarin NM: The triple origin of skull in higher vertebrates: a study in quail-chick chimeras. Development 1993;117:409-429. (Pubitemid 23103153)
5. Noden DM: Interactions and fates of avian craniofacial mesenchyme. Development 1988;103:121-140.
6. Jiang X, Iseki S, Maxson RE, Sucov HM, Morriss-Kay GM: Tissue origins and interactions in the mammalian skull vault. Dev Biol 2002;241:106-116. (Pubitemid 34066765)
7. Wilkie AO, Oldridge M, Tang Z, Maxson RE Jr: Craniosynostosis and related limb anomalies. Novartis Found Symp 2001;232:122-133.
8. Ornitz DM, Marie PJ: FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease. Genes Dev 2002;16:1446-1465. (Pubitemid 34686327)
9. Meyers GA, Orlow SJ, Munro IR, Przylepa KA, Jabs EW: Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. Nat Genet 1995;11:462-464.
10. Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S: Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nat Genet 1994;8:98-103. (Pubitemid 24274068)
11. Muenke M, Schell U, Hehr A, et al: A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nat Genet 1994;8:269-274. (Pubitemid 24338739)
12. Wilkie AOW, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, Hayward RD, David DJ, Pulleyn LJ, Rutland P, Malcolm S, Winter RM, Reardon W: Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet 1995;9:165-172.
13. Jabs EW, Li X, Scott AF, Meyers G, Chen W, Eccles M, Mao J-I, Charnas LR, Jackson CE, Jaye M: Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nat Genet 1994;8:275-279. (Pubitemid 24338740)
14. Wilkie AO, Morriss-Kay GM: Genetics of craniofacial development and malformation. Nat Rev Genet 2001;2:458-468. (Pubitemid 33673412)
15. Jabs EW, Muller U, Li X, et al: A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. Cell 1993;75:443-450. (Pubitemid 23335070)
16. Wuyts W, Reardon W, Preis S, et al: Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna. Hum Mol Genet 2000;9:1251-1255. (Pubitemid 30248612)
17. Wuyts W, Cleiren E, Homfray T, Rasore-Quartino A, Vanhoenacker F, Van Hul W: The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500). J Med Genet 2000;37:916-920. (Pubitemid 32002887)
18. Wu YQ, Badano JL, McCaskill C, Vogel H, Potocki L, Shaffer LG: Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome. Am J Hum Genet 2000;67:1327-1332.
19. Mavrogiannis LA, Antonopoulou I, Baxova A, et al: Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. Nat Genet 2001;27:17-18. (Pubitemid 32044511)
20. el Ghouzzi V, Le Merrer M, Perrin-Schmitt F, et al: Mutations of the TWIST gene in the Saethre-Chotzen syndrome. Nat Genet 1997;15:42-46. (Pubitemid 27014948)
21. Howard TD, Paznekas WA, Green ED, et al: Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Nat Genet 1997;15:36-41. (Pubitemid 27014947)
22. Thompson EM, Baraitser M, Hayward RD: Parietal foramina in Saethre-Chotzen syndrome. J Med Genet 1984;21:369-372. (Pubitemid 14049043)
23. Young ID, Swift PG: Parietal foramina in the Saethre-Chotzen syndrome. J Med Genet 1985;22:413-414.
24. Kamath BM, Stolle C, Bason L, et al: Craniosynostosis in Alagille syndrome. Am J Med Genet 2002;112:176-180. (Pubitemid 35332183)
25. Twigg SR, Kan R, Babbs C, et al: Mutations of ephrin-B1(EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Proc Natl Acad Sci USA 2004;101:8652-8657. (Pubitemid 38745826)
26. Carver EA, Oram KF, Gridley T: Craniosynostosis in Twist heterozygous mice: a model for Saethre-Chotzen syndrome. Anat Rec 2002;268:90-92.
27. Liu YH, Tang Z, Kundu RK, et al: Msx2 gene dosage influences the number of proliferative osteogenic cells in growth centers of the developing murine skull: a possible mechanism for MSX2-mediated craniosynostosis in humans. Dev Biol 1999;205:260-274. (Pubitemid 29066384)
28. Satokata I, Ma L, Ohshima H, et al: Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation. Nat Genet 2000;24:391-395. (Pubitemid 30187439)
29. Satokata I, Maas R: Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development. Nat Genet 1994;6:348-356. (Pubitemid 24190017)
30. Ishii M, Merrill AE, Chan YS, et al: Msx2 and Twist cooperatively control the development of the neural crest-derived skeletogenic mesenchyme of the murine skull vault. Development 2003;130:6131-6142. (Pubitemid 38016176)
31. Carlton MB, Colledge WH, Evans MJ: Crouzon-like craniofacial dysmorphology in the mouse is caused by an insertional mutation at the Fgf3/Fgf4 locus. Dev Dyn 1998;212:242-249. (Pubitemid 28265143)
32. Hajihosseini MK, Wilson S, De Moerlooze L, Dickson C: A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes. Proc Natl Acad Sci USA 2001;98:3855-3860. (Pubitemid 32249861)
33. Shi Y, Massague J: Mechanisms of TGF-beta signaling from cell membrane to the nucleus. Cell 2003;113:685-700. (Pubitemid 36724933)
34. Massague J, Chen YG: Controlling TGF-beta signaling. Genes Dev 2000;14:627-644.
35. Hogan BL: Bone morphogenetic proteins: multifunctional regulators of vertebrate development. Genes Dev 1996;10:1580-1594. (Pubitemid 26268864)
36. Gurdon JB, Bourillot PY: Morphogen gradient interpretation. Nature 2001;413:797-803. (Pubitemid 33026841)
37. ten Dijke P, Miyazono K, Heldin CH: Signaling via hetero-oligomeric complexes of type I and type II serine/threonine kinase receptors. Curr Opin Cell Biol 1996;8:139-145. (Pubitemid 26109085)
38. Massague J: TGF-beta signal transduction. Annu Rev Biochem 1998;67:753-791.
39. Liu YH, Kundu R, Wu L, et al: Premature suture closure and ectopic cranial bone in mice expressing Msx2 transgenes in the developing skull. Proc Natl Acad Sci USA 1995;92:6137-6141.
40. Nohno T, Ishikawa T, Saito T, et al: Identification of a human type II receptor for bone morphogenetic protein-4 that forms differential heteromeric complexes with bone morphogenetic protein type I receptors. J Biol Chem 1995;270:22522-22526.
41. Heldin CH, Miyazono K, ten Dijke P: TGF-beta signalling from cell membrane to nucleus through SMAD proteins. Nature 1997;390:465-471. (Pubitemid 28013118)
42. Raftery LA, Twombly V, Wharton K, Gelbart WM: Genetic screens to identify elements of the decapentaplegic signaling pathway in Drosophila. Genetics 1995;139:241-254.
43. Sekelsky JJ, McKim KS, Chin GM, Hawley RS: The Drosophila meiotic recombination gene mei-9 encodes a homologue of the yeast excision repair protein Rad1. Genetics 1995;141:619-627.
44. Kretzschmar M, Liu F, Hata A, Doody J, Massague J: The TGF-beta family mediator Smad1 is phosphorylated directly and activated functionally by the BMP receptor kinase. Genes Dev 1997;11:984-995. (Pubitemid 27199878)
45. Lagna G, Hata A, Hemmati-Brivanlou A, Massague J: Partnership between DPC4 and SMAD proteins in TGF-beta signalling pathways. Nature 1996;383:832-836. (Pubitemid 26372668)
46. Liu F, Pouponnot C, Massague J: Dual role of the Smad4/DPC4 tumor suppressor in TGFbetainducible transcriptional complexes. Genes Dev 1997;11:3157-3167. (Pubitemid 27528056)
47. Liu F, Hata A, Baker JC, et al: A human Mad protein acting as a BMP-regulated transcriptional activator. Nature 1996;381:620-623. (Pubitemid 26177480)
48. Hoodless PA, Haerry T, Abdollah S, et al: MADR1, a MAD-related protein that functions in BMP2 signaling pathways. Cell 1996;85:489-500. (Pubitemid 26157188)
49. Suzuki A, Ueno N, Hemmati-Brivanlou A: Xenopus msx1 mediates epidermal induction and neural inhibition by BMP4. Development 1997;124:3037-3044. (Pubitemid 27387081)
50. Wiersdorff V, Lecuit T, Cohen SM, Mlodzik M: Mad acts downstream of Dpp receptors, revealing a differential requirement for dpp signaling in initiation and propagation of morphogenesis in the Drosophila eye. Development 1996;122:2153-2162. (Pubitemid 26235815)
51. Shi Y, Wang YF, Jayaraman L, Yang H, Massague J, Pavletich NP: Crystal structure of a Smad MH1 domain bound to DNA: insights on DNA binding in TGF-beta signaling. Cell 1998;94:585-594. (Pubitemid 28427577)
52. Wrana JL: Regulation of Smad activity. Cell 2000;100:189-192. (Pubitemid 30064906)
53. Chen H, Ovchinnikov D, Pressman CL, Aulehla A, Lun Y, Johnson RL: Multiple calvarial defects in lmx1b mutant mice. Dev Genet 1998;22:314-320. (Pubitemid 28309086)
54. Chen JN, van Eeden FJ, Warren KS, et al: Left-right pattern of cardiac BMP4 may drive asymmetry of the heart in zebrafish. Development 1997;124:4373-4382. (Pubitemid 27496872)
55. Chen Y, Bei M, Woo I, Satokata I, Maas R: Msx1 controls inductive signaling in mammalian tooth morphogenesis. Development 1996;122:3035-3044. (Pubitemid 26371969)
56. Hua X, Liu X, Ansari DO, Lodish HF: Synergistic cooperation of TFE3 and smad proteins in TGF-beta-induced transcription of the plasminogen activator inhibitor-1 gene. Genes Dev 1998;12:3084-3095. (Pubitemid 28469309)
57. Labbe E, Silvestri C, Hoodless PA, Wrana JL, Attisano L: Smad2 and Smad3 positively and negatively regulate TGF beta-dependent transcription through the forkhead DNA-binding protein FAST2. Mol Cell 1998;2:109-120. (Pubitemid 128378972)
58. Labbe E, Letamendia A, Attisano L: Association of Smads with lymphoid enhancer binding factor 1/T cell-specific factor mediates cooperative signaling by the transforming growth factor-beta and wnt pathways. Proc Natl Acad Sci USA 2000;97:8358-8363. (Pubitemid 30639677)
59. Germain S, Howell M, Esslemont GM, Hill CS: Homeodomain and winged-helix transcription factors recruit activated Smads to distinct promoter elements via a common Smad interaction motif. Genes Dev 2000;14:435-451. (Pubitemid 30131889)
60. Ionescu AM, Drissi H, Schwarz EM, et al: CREB cooperates with BMP-stimulated Smad signaling to enhance transcription of the Smad6 promoter. J Cell Physiol 2004;198:428-440. (Pubitemid 38235038)
61. Shi X, Yang X, Chen D, Chang Z, Cao X: Smad1 interacts with homeobox DNA-binding proteins in bone morphogenetic protein signaling. J Biol Chem 1999;274:13711-13717.
62. Shim S, Bae N, Han JK: Bone morphogenetic protein-4-induced activation of Xretpos is mediated by Smads and Olf-1/EBF associated zinc finger (OAZ). Nucleic Acids Res 2002;30:3107-3117. (Pubitemid 34846175)
63. Hata A, Seoane J, Lagna G, Montalvo E, Hemmati-Brivanlou A, Massague J: OAZ uses distinct DNA-and protein-binding zinc fingers in separate BMP-Smad and Olf signaling pathways. Cell 2000;100:229-240. (Pubitemid 30064911)
64. Henningfeld KA, Friedle H, Rastegar S, Knochel W: Autoregulation of Xvent-2B; direct interaction and functional cooperation of Xvent-2 and Smad1. J Biol Chem 2002;277:2097-2103. (Pubitemid 34968793)
65. Brugger SM, Merrill AE, Torres-Vazquez J, et al: A phylogenetically conserved cis-regulatory module in the Msx2 promoter is sufficient for BMP-dependent transcription in murine and Drosophila embryos. Development 2004;131:5153-5165. (Pubitemid 39485370)
66. Kim HJ, Rice DP, Kettunen PJ, Thesleff I: FGF-, BMP-and Shh-mediated signalling pathways in the regulation of cranial suture morphogenesis and calvarial bone development. Development 1998;125:1241-1251. (Pubitemid 28203938)
67. Antonopoulou I, Mavrogiannis LA, Wilkie AO, Morriss-Kay GM: Alx4 and Msx2 play phenotypically similar and additive roles in skull vault differentiation. J Anat 2004;204:487-499. (Pubitemid 38807811)
68. Rice R, Rice DP, Olsen BR, Thesleff I: Progression of calvarial bone development requires Foxc1 regulation of Msx2 and Alx4. Dev Biol 2003;262:75-87. (Pubitemid 37153105)
69. Vainio S, Karavanova I, Jowett A, Thesleff I: Identification of BMP-4 as a signal mediating secondary induction between epithelial and mesenchymal tissues during early tooth development. Cell 1993;75:45-58. (Pubitemid 23306020)
70. Rice DP, Kim HJ, Thesleff I: Apoptosis in murine calvarial bone and suture development. Eur J Oral Sci 1999;107:265-275.
71. Jagla T, Bidet Y, Da Ponte JP, Dastugue B, Jagla K: Cross-repressive interactions of identity genes are essential for proper specification of cardiac and muscular fates in Drosophila. Development 2002;129:1037-1047. (Pubitemid 34874127)
72. Ma L, Martin JF: Generation of a Bmp2 conditional null allele. Genesis 2005;42:203-206. (Pubitemid 41099679)
73. Jiao K, Kulessa H, Tompkins K, et al: An essential role of Bmp4 in the atrioventricular septation of the mouse heart. Genes Dev 2003;17:2362-2367. (Pubitemid 37214784)
74. Merrill AE, Bochukova EG, Brugger SM, et al: Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis. Hum Mol Genet 2006;15:1319-1328.
75. Warren SM, Brunet LJ, Harland RM, Economides AN, Longaker MT: The BMP antagonist noggin regulates cranial suture fusion. Nature 2003;422:625-629. (Pubitemid 36460417)