MAPK/ERK signaling pathway analysis in primary osteoblasts from patients with nonsyndromic sagittal craniosynostosis

Cleft Palate-Craniofacial Journal

Volumn 51, Issue 1, 2014, Pages 115-119

  Kim, Sun Don ^a   Yagnik, Garima ^a   Cunningham, Michael L ^b   Kim, Jinoh ^a   Boyadjiev, Simeon A ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

BFGF; ERK; FGF2; FGFRs; MAPK; Non syndromic; Nonsyndromic; Sagittal craniosynostosis

Indexed keywords

FIBROBLAST GROWTH FACTOR 2; FIBROBLAST GROWTH FACTOR RECEPTOR 2; MITOGEN ACTIVATED PROTEIN KINASE; MITOGEN ACTIVATED PROTEIN KINASE 1; MITOGEN ACTIVATED PROTEIN KINASE 3; MITOGEN ACTIVATED PROTEIN KINASE KINASE KINASE 1;

ARTICLE; CALVARIA; CONTROLLED STUDY; CRANIOFACIAL SYNOSTOSIS; ENZYME PHOSPHORYLATION; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOBLOTTING; NEUROSURGERY; NONSYNDROMIC SAGITTAL CRANIOSYNOSTOSIS; OSTEOBLAST; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; CASE CONTROL STUDY; CELL CULTURE; CYTOLOGY; METABOLISM; PHOSPHORYLATION; SKULL;

CASE-CONTROL STUDIES; CELLS, CULTURED; CRANIOSYNOSTOSES; HUMANS; IMMUNOBLOTTING; MAP KINASE KINASE KINASE 1; OSTEOBLASTS; PHOSPHORYLATION; SIGNAL TRANSDUCTION; SKULL;

EID: 84892385072     PISSN: 10556656     EISSN: 15451569     Source Type: Journal    
DOI: 10.1597/12-136     Document Type: Article

References (42)

1. 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.
2. Bhat A, Boyadjiev SA, Senders CW, Leach JK. Differential growth factor adsorption to calvarial osteoblast-secreted extracellular matrices instructs osteoblastic behavior. PLoS One. 2011;6:e25990.
3. Boyadjiev SA. Genetic analysis of non-syndromic craniosynostosis. Orthod Craniofac Res. 2007;10:129-137.
4. Chang L, Karin M. Mammalian MAP kinase signalling cascades. Nature. 2001;410(6824):37-40.
5. Cohen MM. Craniosynostosis: Diagnosis, Evaluation, and Management New York: Oxford University Press; 2000.
6. Dodig M, Tadic T, Kronenberg MS, Dacic S, Liu YH, Maxson R, Rowe DW, Lichtler AC. Ectopic Msx2 overexpression inhibits and Msx2 antisense stimulates calvarial osteoblast differentiation. Dev Biol. 1999;209:298-307.
7. Eswarakumar VP, Ozcan F, Lew ED, Bae JH, Tome F, Booth CJ, Adams DJ, Lax I, Schlessinger J. Attenuation of signaling pathways stimulated by pathologically activated FGF-receptor 2 mutants prevents craniosynostosis. Proc Natl Acad Sci U S A. 2006;103:18603-8608.
8. Guenou H, Kaabeche K, Dufour C, Miraoui H, Marie PJ. Downregulation of ubiquitin ligase Cbl induced by twist haploinsufficiency in Saethre-Chotzen syndrome results in increased PI3K/Akt signaling and osteoblast proliferation. Am J Pathol. 2006;169:1303-1311.
9. Johnson D, Wall S, Mann S, Wilkie A. A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to raniosynostosis? Eur J Hum Genet. 2000;8:571-577.
10. Justice CM, Yagnik G, Kim Y, et al. A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9. Nat Genet. 2012;44:1360-1364.
11. Kim HJ, Lee MH, Park HS, Park MH, Lee SW, Kim SY, Choi JY, Shin HI, Ryoo HM. Erk pathway and activator protein 1 play crucial roles in FGF2-stimulated premature cranial suture closure. Dev Dyn. 2003;227:335-346.
12. Kim SD, Liu JL, Roscioli T, Buckley MF, Yagnik G, Boyadjiev SA,Kim J. Leucine-rich repeat, immunoglobulin-like and ransmembrane domain 3 (LRIT3) is a modulator of FGFR1. FEBS Lett.2012;586:1516-1521.
13. Kimonis V, Gold JA, Hoffman TL, Panchal J, Boyadjiev SA. Genetics of craniosynostosis. Semin Pediatr Neurol. 2007;14:150-161.
14. Lee KS, Kim HJ, Li QL, et al. Runx2 is a common target of transforming growth factor beta1 and bone morphogenetic protein 2, and cooperation between Runx2 and Smad5 induces osteoblastspecific gene expression in the pluripotent mesenchymal precursor cell line C2C12. Mol Cell Biol. 2000;20:8783-8792.
15. Lemmon MA, Schlessinger J. Regulation of signal transduction and signal diversity by receptor oligomerization. Trends Biochem Sci. 1994;19:459-463.
16. Mefford HC, Shafer N, Antonacci F, et al. Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis. Am J Med Genet A. 2010;152A:2203-2210.
17. Melville H, Wang Y, Taub PJ, Jabs EW. Genetic basis of potential therapeutic strategies for craniosynostosis. Am J Med Genet A. 2010;152A:3007-3015.
18. Merrill AE, Bochukova EG, Brugger SM, Ishii M, Pilz DT, Wall SA, Lyons KM, Wilkie AO, Maxson RE, Jr. 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.
19. Miraoui H, Marie PJ. Fibroblast growth factor receptor signaling crosstalk in skeletogenesis. Sci Signal. 2010;3(146):re9.
20. Miraoui H, Ringe J, Haupl T, Marie PJ, Increased EFG-and PDGFalpha-receptor signaling by mutant FGF-receptor 2 contributes to steoblast dysfunction in Apert craniosynostosis. Hum Mol Genet. 2010;19:1678-1689.
21. Moenning A, Jager R, Egert A, Kress W, Wardelmann E, Schorle H. Sustained platelet-derived growth factor receptor alpha signaling in osteoblasts results in craniosynostosis by overactivating the phospholipase C-gamma pathway. Mol Cell Biol. 2009;29:881-891.
22. Newberry EP, Latifi T, Towler DA. Reciprocal regulation of osteocalcin transcription by the homeodomain proteins Msx2 and Dlx5. Biochemistry. 1998;37:16360-16368.
23. Ohba S, Kawaguchi H, Kugimiya F, et al. Patched1 haploinsufficiency increases adult bone mass and modulates Gli3 repressor activity. Dev Cell. 2008;14:689-699.
24. Ornitz DM, Itoh N. Fibroblast growth factors. Genome Biol. 2001;2(3):REVIEWS3005.
25. Ornitz DM, Marie PJ. FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease. Genes Dev. 2002;16:1446-1465.
26. Passos-Bueno MR, Serti Eacute AE, Jehee FS, Fanganiello R, Yeh E. Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations. Front Oral Biol. 2008;12:107-143.
27. Richardson S, Browne ML, Rasmussen SA, Druschel CM, Sun L, Jabs EW, Romitti PA, National Birth Defects Prevention S. Associations between periconceptional alcohol consumption and craniosynostosis, omphalocele, and gastroschisis. Birth Defects Res A Clin Mol Teratol. 2011;91:623-630.
28. Seto ML, Hing AV, Chang J, et al. Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. Am J Med Genet A. 2007;143:678-686.
29. Shukla V, Coumoul X, Wang RH, Kim HS, Deng CX. RNAinterference and inhibition of MEK-ERK signaling prevent abnormal keletal phenotypes in a mouse model of craniosynostosis. Nat Genet. 2007;39:1145-1150.
30. Slater BJ, Lenton KA, Kwan MD, Gupta DM, Wan DC, Longaker MT. Cranial sutures: a brief review. Plast Reconstr Surg. 2008;121:170e-178e.
31. Tanimoto Y, Veistinen L, Alakurtti K, Takatalo M, Rice DP. Prevention of premature fusion of calvarial suture in Gli3-deficient mice by removing one allele of Runx2. J Biol Chem. 2012:21529-21438.
32. Teplyuk NM, Haupt LM, Ling L, et al. The osteogenic transcription factor Runx2 regulates components of the fibroblast growth factor/ proteoglycan signaling axis in osteoblasts. J Cell Biochem. 2009;107:144-154.
33. Truong T, Zhang XL, Pathmanathan D, Soo C, Ting K. Craniosynostosis- associated gene Nell-1 is regulated by Runx2. J Bone Miner Res. 2007;22:7-18.
34. Twigg SRF, Paraki I, McGowan SJ, et al. Reduced dosage of ERF causes complex craniosynostosis in humans and mice, and links ERK1/2 signalling to regulation of osteogenesis. ASHG Annual Meeting. 2012; Platform presentation 218.
35. Vissers LE, Cox TC, Maga AM, et al. Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. PLoS Genet. 2011;7(9):e1002278.
36. Weber I, Ninkovic M, Janicke A, Utermann B, Witsch-Baumgartner M, Anderl H, Utermann G. Molecular analysis of 74 patients with craniosynostosis. Eur J Hum Genet. 2001;9(supp 1):409.
37. Wilkie AO. Craniosynostosis: genes and mechanisms. Hum Mol Genet. 1997;6:1647-1656.
38. Wilkie AO, Bochukova EG, Hansen RM, et al. Clinical dividends from the molecular genetic diagnosis of craniosynostosis. Am JMed Genet A. 2007;143A:1941-1949.
39. Wilkie AO, Byren JC, Hurst JA, et al. Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. ediatrics. 2010;126:e391-400.
40. Yagnik G, Ghuman A, Kim S, et al. ALX4 gain-of-function mutations in nonsyndromic craniosynostosis. Hum Mutat. 2012;33:1626-629.
41. Yang DC, Tsai CC, Liao YF, Fu HC, Tsay HJ, Huang TF, Chen YH, Hung SC. Twist controls skeletal development and dorsoventral patterning by regulating runx2 in zebrafish. PLoS One. 2011;6:e27324
42. 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;42:631-643.