Differential expression of extracellular matrix-mediated pathways in single-suture craniosynostosis

PLoS ONE

Volumn 6, Issue 10, 2011, Pages

  Stamper, Brendan D ^a   Park, Sarah S ^a   Beyer, Richard P ^b   Bammler, Theo K ^b   Farin, Frederico M ^b   Mecham, Brig ^c   Cunningham, Michael L ^a,d  

^a SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c SAGE BIONETWORKS   (United States)

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

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; TRANSCRIPTOME;

ARTICLE; CONTROLLED STUDY; CRANIOFACIAL SYNOSTOSIS; DISEASE CLASSIFICATION; EXTRACELLULAR MATRIX; FIBROBLAST GROWTH FACTOR 7 GENE; FOCAL ADHESION; GENE; GENE EXPRESSION; GENE IDENTIFICATION; GENE INTERACTION; GENETIC ASSOCIATION; GENETIC CONSERVATION; GENETIC REGULATION; HUMAN; HUMAN CELL; INFANT; OSTEOBLAST; SECRETED FRIZZLED RELATED PROTEIN 4 GENE; TRANSCRIPTOMICS; VASCULAR CELL ADHESION MOLECULE 1 GENE; CASE CONTROL STUDY; CHILD; CRANIAL SUTURE; FEMALE; GENETICS; MALE; METABOLISM; PATHOLOGY; PRESCHOOL CHILD; SIGNAL TRANSDUCTION;

CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CRANIAL SUTURES; CRANIOSYNOSTOSES; EXTRACELLULAR MATRIX; FEMALE; FOCAL ADHESIONS; HUMANS; INFANT; MALE; OSTEOBLASTS; SIGNAL TRANSDUCTION; TRANSCRIPTOME;

EID: 80054787803     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0026557     Document Type: Article

References (69)

1. Lajeunie E, Le Merrer M, Bonaiti-Pellie C, Marchac D, Renier D, (1995) Genetic study of nonsyndromic coronal craniosynostosis. Am J Med Genet 55: 500-504.
2. Cohen MMJ, (2000) Epidemiology of Craniosynostosis. Craniosynostosis, 2nd Ed New York Oxford University Press.
3. Cunningham ML, Seto ML, Ratisoontorn C, Heike CL, Hing AV, (2007) Syndromic craniosynostosis: from history to hydrogen bonds. Orthod Craniofac Res 10: 67-81.
4. Passos-Bueno MR, Serti Eacute AE, Jehee FS, Fanganiello R, Yeh E, (2008) Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations. Front Oral Biol 12: 107-143.
5. Aleck K, (2004) Craniosynostosis syndromes in the genomic era. Semin Pediatr Neurol 11: 256-261.
6. Wilkie AO, Byren JC, Hurst JA, Jayamohan J, Johnson D, et al. (2010) Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. Pediatrics 126: e391-400.
7. Muenke M, Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, et al. (1997) A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet 60: 555-564.
8. Mulliken JB, Gripp KW, Stolle CA, Steinberger D, Muller U, (2004) Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis). Plast Reconstr Surg 113: 1899-1909.
9. Mulliken JB, Steinberger D, Kunze S, Muller U, (1999) Molecular diagnosis of bilateral coronal synostosis. Plast Reconstr Surg 104: 1603-1615.
10. Renier D, El-Ghouzzi V, Bonaventure J, Le Merrer M, Lajeunie E, (2000) Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome. J Neurosurg 92: 631-636.
11. Seto ML, Hing AV, Chang J, Hu M, Kapp-Simon KA, et al. (2007) Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. Am J Med Genet A 143: 678-686.
12. Boulet SL, Rasmussen SA, Honein MA, (2008) A population-based study of craniosynostosis in metropolitan Atlanta, 1989-2003. Am J Med Genet A 146A: 984-991.
13. Graham JM Jr, Badura RJ, Smith DW, (1980) Coronal craniostenosis: fetal head constraint as one possible cause. Pediatrics 65: 995-999.
14. Graham JM Jr, deSaxe M, Smith DW, (1979) Sagittal craniostenosis: fetal head constraint as one possible cause. J Pediatr 95: 747-750.
15. Graham JM Jr, Smith DW, (1980) Metopic craniostenosis as a consequence of fetal head constraint: two interesting experiments of nature. Pediatrics 65: 1000-1002.
16. Honein MA, Rasmussen SA, (2000) Further evidence for an association between maternal smoking and craniosynostosis. Teratology 62: 145-146.
17. Kallen K, (1999) Maternal smoking and craniosynostosis. Teratology 60: 146-150.
18. Reefhuis J, Honein MA, Shaw GM, Romitti PA, (2003) Fertility treatments and craniosynostosis: California, Georgia, and Iowa, 1993-1997. Pediatrics 111: 1163-1166.
19. Rasmussen SA, Yazdy MM, Frias JL, Honein MA, (2008) Priorities for public health research on craniosynostosis: summary and recommendations from a Centers for Disease Control and Prevention-sponsored meeting. Am J Med Genet A 146A: 149-158.
20. Bochukova EG, Soneji S, Wall SA, Wilkie AO, (2010) Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis. J Med Genet 47: 803-808.
21. Fanganiello RD, Sertie AL, Reis EM, Yeh E, Oliveira NA, et al. (2007) Apert p.Ser252Trp mutation in FGFR2 alters osteogenic potential and gene expression of cranial periosteal cells. Mol Med 13: 422-442.
22. Miraoui H, Ringe J, Haupl T, Marie PJ, (2010) Increased EFG- and PDGFalpha-receptor signaling by mutant FGF-receptor 2 contributes to osteoblast dysfunction in Apert craniosynostosis. Hum Mol Genet 19: 1678-1689.
23. Carinci F, Bodo M, Tosi L, Francioso F, Evangelisti R, et al. (2002) Expression profiles of craniosynostosis-derived fibroblasts. Mol Med 8: 638-644.
24. Coussens AK, Hughes IP, Wilkinson CR, Morris CP, Anderson PJ, et al. (2008) Identification of genes differentially expressed by prematurely fused human sutures using a novel in vivo- in vitro approach. Differentiation 76: 531-545.
25. Coussens AK, Wilkinson CR, Hughes IP, Morris CP, van Daal A, et al. (2007) Unravelling the molecular control of calvarial suture fusion in children with craniosynostosis. BMC Genomics 8: 458.
26. Geiger B, Bershadsky A, Pankov R, Yamada KM, (2001) Transmembrane crosstalk between the extracellular matrix--cytoskeleton crosstalk. Nat Rev Mol Cell Biol 2: 793-805.
27. Jiang X, Iseki S, Maxson RE, Sucov HM, Morriss-Kay GM, (2002) Tissue origins and interactions in the mammalian skull vault. Dev Biol 241: 106-116.
28. Ornitz DM, Marie PJ, (2002) FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease. Genes Dev 16: 1446-1465.
29. Mason IJ, Fuller-Pace F, Smith R, Dickson C, (1994) FGF-7 (keratinocyte growth factor) expression during mouse development suggests roles in myogenesis, forebrain regionalisation and epithelial-mesenchymal interactions. Mech Dev 45: 15-30.
30. Ornitz DM, Xu J, Colvin JS, McEwen DG, MacArthur CA, et al. (1996) Receptor specificity of the fibroblast growth factor family. J Biol Chem 271: 15292-15297.
31. Zhou YX, Xu X, Chen L, Li C, Brodie SG, et al. (2000) A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures. Hum Mol Genet 9: 2001-2008.
32. Logan CY, Nusse R, (2004) The Wnt signaling pathway in development and disease. Annu Rev Cell Dev Biol 20: 781-810.
33. Behr B, Longaker MT, Quarto N, (2010) Differential activation of canonical Wnt signaling determines cranial sutures fate: a novel mechanism for sagittal suture craniosynostosis. Dev Biol 344: 922-940.
34. Liu B, Yu HM, Hsu W, (2007) Craniosynostosis caused by Axin2 deficiency is mediated through distinct functions of beta-catenin in proliferation and differentiation. Dev Biol 301: 298-308.
35. Maruyama T, Mirando AJ, Deng CX, Hsu W, (2010) The balance of WNT and FGF signaling influences mesenchymal stem cell fate during skeletal development. Sci Signal 3: ra40.
36. Yu HM, Jerchow B, Sheu TJ, Liu B, Costantini F, et al. (2005) The role of Axin2 in calvarial morphogenesis and craniosynostosis. Development 132: 1995-2005.
37. Brault V, Moore R, Kutsch S, Ishibashi M, Rowitch DH, et al. (2001) Inactivation of the beta-catenin gene by Wnt1-Cre-mediated deletion results in dramatic brain malformation and failure of craniofacial development. Development 128: 1253-1264.
38. Ikeya M, Lee SM, Johnson JE, McMahon AP, Takada S, (1997) Wnt signalling required for expansion of neural crest and CNS progenitors. Nature 389: 966-970.
39. Lan Y, Ryan RC, Zhang Z, Bullard SA, Bush JO, et al. (2006) Expression of Wnt9b and activation of canonical Wnt signaling during midfacial morphogenesis in mice. Dev Dyn 235: 1448-1454.
40. Lee JM, Kim JY, Cho KW, Lee MJ, Cho SW, et al. (2008) Wnt11/Fgfr1b cross-talk modulates the fate of cells in palate development. Dev Biol 314: 341-350.
41. Niemann S, Zhao C, Pascu F, Stahl U, Aulepp U, et al. (2004) Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family. Am J Hum Genet 74: 558-563.
42. Horvath LG, Henshall SM, Kench JG, Saunders DN, Lee CS, et al. (2004) Membranous expression of secreted frizzled-related protein 4 predicts for good prognosis in localized prostate cancer and inhibits PC3 cellular proliferation in vitro. Clin Cancer Res 10: 615-625.
43. Suzuki H, Watkins DN, Jair KW, Schuebel KE, Markowitz SD, et al. (2004) Epigenetic inactivation of SFRP genes allows constitutive WNT signaling in colorectal cancer. Nat Genet 36: 417-422.
44. Bayle J, Fitch J, Jacobsen K, Kumar R, Lafyatis R, et al. (2008) Increased expression of Wnt2 and SFRP4 in Tsk mouse skin: role of Wnt signaling in altered dermal fibrillin deposition and systemic sclerosis. J Invest Dermatol 128: 871-881.
45. Le Floch N, Rivat C, De Wever O, Bruyneel E, Mareel M, et al. (2005) The proinvasive activity of Wnt-2 is mediated through a noncanonical Wnt pathway coupled to GSK-3beta and c-Jun/AP-1 signaling. FASEB J 19: 144-146.
46. Sousa KM, Villaescusa JC, Cajanek L, Ondr JK, Castelo-Branco G, et al. (2010) Wnt2 regulates progenitor proliferation in the developing ventral midbrain. J Biol Chem 285: 7246-7253.
47. Nakanishi R, Akiyama H, Kimura H, Otsuki B, Shimizu M, et al. (2008) Osteoblast-targeted expression of Sfrp4 in mice results in low bone mass. J Bone Miner Res 23: 271-277.
48. Day TF, Guo X, Garrett-Beal L, Yang Y, (2005) Wnt/beta-catenin signaling in mesenchymal progenitors controls osteoblast and chondrocyte differentiation during vertebrate skeletogenesis. Dev Cell 8: 739-750.
49. Hill TP, Spater D, Taketo MM, Birchmeier W, Hartmann C, (2005) Canonical Wnt/beta-catenin signaling prevents osteoblasts from differentiating into chondrocytes. Dev Cell 8: 727-738.
50. ten Berge D, Brugmann SA, Helms JA, Nusse R, (2008) Wnt and FGF signals interact to coordinate growth with cell fate specification during limb development. Development 135: 3247-3257.
51. Reinhold MI, Kapadia RM, Liao Z, Naski MC, (2006) The Wnt-inducible transcription factor Twist1 inhibits chondrogenesis. J Biol Chem 281: 1381-1388.
52. Bodo M, Carinci F, Baroni T, Giammarioli M, Bellucci C, et al. (1997) Apert's syndrome: differential in vitro production of matrix macromolecules and its regulation by interleukins. Eur J Clin Invest 27: 36-42.
53. Lemonnier J, Hay E, Delannoy P, Lomri A, Modrowski D, et al. (2001) Role of N-cadherin and protein kinase C in osteoblast gene activation induced by the S252W fibroblast growth factor receptor 2 mutation in Apert craniosynostosis. J Bone Miner Res 16: 832-845.
54. Lomri A, Lemonnier J, Hott M, de Parseval N, Lajeunie E, et al. (1998) Increased calvaria cell differentiation and bone matrix formation induced by fibroblast growth factor receptor 2 mutations in Apert syndrome. J Clin Invest 101: 1310-1317.
55. Karsenty G, (1999) The genetic transformation of bone biology. Genes Dev 13: 3037-3051.
56. Cunningham ML, Horst JA, Rieder MJ, Hing AV, Stanaway IB, et al. (2011) IGF1R variants associated with isolated single suture craniosynostosis. Am J Med Genet A 155A: 91-97.
57. Firth SM, Baxter RC, (2002) Cellular actions of the insulin-like growth factor binding proteins. Endocr Rev 23: 824-854.
58. Hoflich A, Lahm H, Blum W, Kolb H, Wolf E, (1998) Insulin-like growth factor-binding protein-2 inhibits proliferation of human embryonic kidney fibroblasts and of IGF-responsive colon carcinoma cell lines. FEBS Lett 434: 329-334.
59. Kuang Z, Yao S, McNeil KA, Thompson JA, Bach LA, et al. (2007) Cooperativity of the N- and C-terminal domains of insulin-like growth factor (IGF) binding protein 2 in IGF binding. Biochemistry 46: 13720-13732.
60. Speltz ML, Kapp-Simon K, Collett B, Keich Y, Gaither R, et al. (2007) Neurodevelopment of infants with single-suture craniosynostosis: presurgery comparisons with case-matched controls. Plast Reconstr Surg 119: 1874-1881.
61. Leppig KA, Werler MM, Cann CI, Cook CA, Holmes LB, (1987) Predictive value of minor anomalies. I. Association with major malformations. J Pediatr 110: 531-537.
62. Gentleman RC, Carey VJ, Bates DM, Bolstad B, Dettling M, et al. (2004) Bioconductor: open software development for computational biology and bioinformatics. Genome Biol 5: R80.
63. Irizarry RA, Hobbs B, Collin F, Beazer-Barclay YD, Antonellis KJ, et al. (2003) Exploration, normalization, and summaries of high density oligonucleotide array probe level data. Biostatistics 4: 249-264.
64. Irizarry RA, Bolstad BM, Collin F, Cope LM, Hobbs B, et al. (2003) Summaries of Affymetrix GeneChip probe level data. Nucleic Acids Res 31: e15.
65. Bolstad BM, Irizarry RA, Astrand M, Speed TP, (2003) A comparison of normalization methods for high density oligonucleotide array data based on variance and bias. Bioinformatics 19: 185-193.
66. Dennis G Jr, Sherman BT, Hosack DA, Yang J, Gao W, et al. (2003) DAVID: Database for Annotation, Visualization, and Integrated Discovery. Genome Biol 4: P3.
67. Huang da W, Sherman BT, Lempicki RA, (2009) Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources. Nat Protoc 4: 44-57.
68. Smyth GK, (2004) Linear models and empirical bayes methods for assessing differential expression in microarray experiments. Stat Appl Genet Mol Biol 3: Article3.
69. Benjamini Y, Hochberg Y, (1995) Controlling the false discovery rate: a practical and powerful approach to multiple testing. Journal of the Royal Statistical Society Series B pp. 289-300.