Molecular basis of cranial suture biology and disease: Osteoblastic and osteoclastic perspectives

Genes and Diseases

Volumn 1, Issue 1, 2014, Pages 120-125

  Beederman, Maureen ^a   Farina, Evan M ^b   Reid, Russell R ^a  

^a UNIVERSITY OF CHICAGO MEDICAL CENTER   (United States)

^b UNIVERSITY OF CHICAGO   (United States)

Author keywords

Cranial sutures; Craniosynostosis; Dura mater; Osteoblasts; Osteoclasts

Indexed keywords

CALVARIA; COMPUTER ASSISTED TOMOGRAPHY; CRANIAL SUTURE; CRANIOFACIAL SYNOSTOSIS; DURA MATER; HUMAN; MOLECULARLY TARGETED THERAPY; NONHUMAN; OSTEOBLAST; OSTEOCLAST; REVIEW; SIGNAL TRANSDUCTION;

EID: 84931829995     PISSN: None     EISSN: 23523042     Source Type: Journal    
DOI: 10.1016/j.gendis.2014.07.004     Document Type: Review

References (36)

1. Cohen M.M. Sutural biology and the correlates of craniosynostosis. Am J Med Genet 1993, 47(5):581-616.
2. Vu H.L., Panchal J., Parker E.E., Levine N.S., Francel P. The timing of physiologic closure of the metopic suture: a review of 159 patients using reconstructed 3D CT scans of the craniofacial region. J Craniofac Surg 2001, 12(6):527-532.
3. Cunningham M.L., Heike C.L. Evaluation of the infant with an abnormal skull shape. Curr Opin Pediatr 2007, 19(6):645-651.
4. Slater B.J., Lenton K.A., Kwan M.D., Gupta D.M., Wan D.C., Longaker M.T. Cranial sutures: a brief review. Plast Reconstr Surg 2008, 121(4):170e-178e.
5. French L.R., Jackson I.T., Melton L.J. A population-based study of craniosynostosis. J Clin Epidemiol 1990, 43(1):69-73.
6. Hukki J., Saarinen P., Kangasniemi M. Single suture craniosynostosis: diagnosis and imaging. Front Oral Biol 2008, 12:79-90.
7. Singer S., Bower C., Southall P., Goldblatt J. Craniosynostosis in Western Australia, 1980-1994: a population-based study. Am J Med Genet 1999, 83(5):382-387.
8. Virchow R. Über den Kretinisumus, namentlich in Franken, und über pathologische Schädelformen. Verh Phys Med Gesell Wursbg 1851, 2:230-271.
9. Slater B.J., Kwan M.D., Gupta D.M., Lee J.K., Longaker M.T. The role of regional posterior frontal dura mater in the overlying suture morphology. Plast Reconstr Surg 2009, 123(2):463-469.
10. Opperman L.A., Sweeney T.M., Redmon J., Persing J.A., Ogle R.C. Tissue interactions with underlying dura mater inhibit osseous obliteration of developing cranial sutures. Dev Dyn 1993, 198(4):312-322.
11. Bradley J.P., Levine J.P., McCarthy J.G., Longaker M.T. Studies in cranial suture biology: regional dura mater determines invitro cranial suture fusion. Plast Reconstr Surg 1997, 100(5):1091-1099. discussion; 1100-1102.
12. Wilkie A.O.M., Patey S.J., Kan S.-H., van den Ouweland A.M.W., Hamel B.C.J. FGFs, their receptors, and human limb malformations: clinical and molecular correlations. Am J Med Genet 2002, 112(3):266-278.
13. Delezoide A.L., Benoist-Lasselin C., Legeai-Mallet L., et al. Spatio-temporal expression of FGFR 1, 2 and 3 genes during human embryo-fetal ossification. Mech Dev 1998, 77(1):19-30.
14. Ibrahimi O.A., Eliseenkova A.V., Plotnikov A.N., Yu K., Ornitz D.M., Mohammadi M. Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome. Proc Natl Acad Sci USA 2001, 98(13):7182-7187.
15. Nah H.-D., Koyama E., Agochukwu N.B., Bartlett S.P., Muenke M. Phenotype profile of a genetic mouse model for Muenke syndrome. Childs Nerv Syst 2012, 28(9):1483-1493.
16. Eswarakumar V.P., Horowitz M.C., Locklin R., Morriss-Kay G.M., Lonai P. A gain-of-function mutation of Fgfr2c demonstrates the roles of this receptor variant in osteogenesis. Proc Natl Acad Sci USA 2004, 101(34):12555-12560.
17. Perlyn C.A., DeLeon V.B., Babbs C., et al. The craniofacial phenotype of the Crouzon mouse: analysis of a model for syndromic craniosynostosis using three-dimensional MicroCT. Cleft Palate Craniofac J 2006, 43(6):740-748.
18. Gong S.-G. The Fgfr2 W290R mouse model of Crouzon syndrome. Childs Nerv Syst 2012, 28(9):1495-1503.
19. Ma L., Golden S., Wu L., Maxson R. The molecular basis of Boston-type craniosynostosis: the Pro148→His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences. Hum Mol Genet 1996, 5(12):1915-1920.
20. Jabs E.W., Müller 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(3):443-450.
21. Reid C.S., McMorrow L.E., McDonald-McGinn D.M., et al. Saethre-Chotzen syndrome with familial translocation at chromosome 7p22. Am J Med Genet 1993, 47(5):637-639.
22. Wilkie A.O., Yang S.P., Summers D., Poole M.D., Reardon W., Winter R.M. Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families. J Med Genet 1995, 32(3):174-180.
23. Twigg S.R.F., 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(23):8652-8657.
24. Greives M.R., Odessey E.A., Waggoner D.J., et al. RUNX2 quadruplication: additional evidence toward a new form of syndromic craniosynostosis. J Craniofac Surg 2013, 24(1):126-129.
25. Lian J.B., Javed A., Zaidi S.K., et al. Regulatory controls for osteoblast growth and differentiation: role of Runx/Cbfa/AML factors. Crit Rev Eukaryot Gene Expr 2004, 14(1-2):1-41.
26. Opperman L.A., Nolen A.A., Ogle R.C. TGF-beta 1, TGF-beta 2, and TGF-beta 3 exhibit distinct patterns of expression during cranial suture formation and obliteration invivo and invitro. JBone Min Res 1997, 12(3):301-310.
27. Roth D.A., Longaker M.T., McCarthy J.G., et al. Studies in cranial suture biology: Part I. Increased immunoreactivity for TGF-beta isoforms (beta 1, beta 2, and beta 3) during rat cranial suture fusion. J Bone Min Res 1997, 12(3):311-321.
28. Nacamuli R.P., Fong K.D., Lenton K.A., et al. Expression and possible mechanisms of regulation of BMP3 in rat cranial sutures. Plast Reconstr Surg 2005, 116(5):1353-1362.
29. Kim N., Odgren P.R., Kim D.K., Marks S.C., Choi Y. Diverse roles of the tumor necrosis factor family member TRANCE in skeletal physiology revealed by TRANCE deficiency and partial rescue by a lymphocyte-expressed TRANCE transgene. Proc Natl Acad Sci USA 2000, 97(20):10905-10910.
30. Naito A., Azuma S., Tanaka S., et al. Severe osteopetrosis, defective interleukin-1 signalling and lymph node organogenesis in TRAF6-deficient mice. Genes Cells 1999, 4(6):353-362.
31. Bucay N., Sarosi I., Dunstan C.R., et al. osteoprotegerin-deficient mice develop early onset osteoporosis and arterial calcification. Genes Dev 1998, 12(9):1260-1268.
32. Lee J.C., Spiguel L., Shenaq D.S., et al. Role of RANK-RANKL-OPG axis in cranial suture homeostasis. J Craniofac Surg 2011, 22(2):699-705. [both authors contributed equally to this work].
33. Warren S.M., Brunet L.J., Harland R.M., Economides A.N., Longaker M.T. The BMP antagonist noggin regulates cranial suture fusion. Nature 2003, 422(6932):625-629.
34. Cooper G.M., Curry C., Barbano T.E., et al. Noggin inhibits postoperative resynostosis in craniosynostotic rabbits. J Bone Min Res 2007, 22(7):1046-1054.
35. Perlyn C.A., Morriss-Kay G., Darvann T., Tenenbaum M., Ornitz D.M. A model for the pharmacological treatment of crouzon syndrome. Neurosurgery 2006, 59(1):210-215. discussion.
36. Yin L., Du X., Li C., et al. A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mimicking human Apert syndrome by affecting both chondrogenesis and osteogenesis. Bone 2008, 42(4):631-643.