Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis

Journal of Medical Genetics

Volumn 47, Issue 12, 2010, Pages 803-808

  Bochukova, Elena G ^a,c   Soneji, Shamit ^a   Wall, Steven A ^b   Wilkie, Andrew O M ^a,b  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 2; FIBROBLAST GROWTH FACTOR RECEPTOR 3; PROTEIN; PROTEIN TWIST1; UNCLASSIFIED DRUG;

ACROCEPHALOSYNDACTYLY; ARTICLE; CELL COMMUNICATION; CLINICAL ARTICLE; CONTROLLED STUDY; CRANIOFACIAL SYNOSTOSIS; FIBROBLAST; GENE EXPRESSION; GENE EXPRESSION PROFILING; HUMAN; HUMAN CELL; MUENKE SYNDROME; PRIORITY JOURNAL; SCALP; SIGNAL TRANSDUCTION; SYNOSTOSIS;

ACROCEPHALOSYNDACTYLIA; CASE-CONTROL STUDIES; CHILD, PRESCHOOL; CLUSTER ANALYSIS; CRANIOSYNOSTOSES; FIBROBLASTS; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; HUMANS; INFANT; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; REPRODUCIBILITY OF RESULTS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SCALP; SYNDROME;

EID: 78649618915     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2009.069617     Document Type: Article

References (34)

1. Cohen MM Jr, MacLean RE, eds. Craniosynostosis: diagnosis, evaluation, and management. 2nd rev edn. Oxford: Oxford University Press, 2000.
2. Lajeunie E, Le Merrer M, Bonaïti-Pellie C, Marchac D, Renier D. Genetic study of scaphocephaly. Am J Med Genet 1996;62:282-5.
3. Lajeunie E, Crimmins DW, Arnaud E, Renier D. Genetic considerations in nonsyndromic midline craniosynostoses: a study of twins and their families. J Neurosurg 2005;103(Suppl 4):353-6.
4. Boyadjiev SA. Genetic analysis of non-syndromic craniosynostosis. Orthod Craniofac Res 2007;10:129-37.
5. Graham JM Jr, deSaxe M, Smith DW. Sagittal craniostenosis: fetal head constraint as one possible cause. J Pediatr 1979;95:747-50.
6. Wilkie AOM, Byren JC, Hurst JA, Jayamohan D, Johnson D, Knight SJL, Lester T, Richards PG, Twigg SRF, Wall SA. Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. Pediatrics. Published Online First: 19 Jul 2010. doi:10.1542/peds.2009-3491.
7. Passos-Bueno MR, Sertié AL, Jehee FS, Fanganiello R, Yeh E. Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations. Front Oral Biol 2007;12:107-43.
8. Wilkie AOM, Bochukova EG, Hansen RM, Taylor IB, Rannan-Eliya SV, Byren JC, Wall SA, Ramos L, Venancio M, Hurst JA, O'Rourke AW, Williams LJ, Seller A, Lester T. Clinical dividends from the molecular genetic diagnosis of craniosynostosis. Am J Med Genet 2007;143:1941-9.
9. Kress W, Schropp C, Lieb G, Petersen B, Büsse-Ratzka M, Kunz J, Reinhart E, Schäfer W-D, Sold J, Hoppe F, Pahnke J, Trusen A, Sörensen N, Krauss J, Collmann H. Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. Eur J Hum Genet 2006;14:39-48.
10. Ducy P, Schinke T, Karsenty G. The osteoblast: a sophisticated fibroblast under central surveillance. Science 2000;289:1501-4.
11. Woods RH, Ul-Haq E, Wilkie AOM, Jayamohan J, Richards PG, Johnson D, Lester T, Wall SA. Reoperation for intracranial hypertension in TWIST1 confirmed Saethre-Chotzen syndrome: a 15 year review. Plast Reconstr Surg 2009;123:1801-10.
12. Irizarry RA, Hobbs B, Collin F, Beazer-Barclay YD, Antonellis KJ, Scherf U, Speed TP. Exploration, normalization, and summaries of high density oligonucleotide array probe level data. Biostatistics 2003;4:249-64.
13. Tusher VG, Tibshirani R, Chu G. Significance analysis of microarrays applied to the ionizing radiation response. Proc Natl Acad Sci U S A 2001;98:5116-21.
14. Tibshirani R, Hastie T, Narasimhan B, Chu G. Diagnosis of multiple cancer types by shrunken centroids of gene expression. Proc Natl Acad Sci U S A 2002;99:6567-72.
15. Sturn A, Quackenbush J, Trajanoski Z. Genesis: cluster analysis of microarray data. Bioinformatics 2002;18:207-8.
16. Dennis G Jr, Sherman BT, Hosack DA, Yang J, Gao W, Lane HC, Lempicki RA. DAVID: database for annotation, visualization, and integrated discovery. Genome Biol 2003;4:P3.
17. Huang DW, Sherman BT, Lempicki RA. Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources. Nat Protoc. 2009;4:44-57.
18. Livak KJ, Schmittgen TD. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 2001;25:402-8.
19. Johnson D, Iseki S, Wilkie AOM, Morriss-Kay GM. Expression patterns of Twist and Fgfr1, -2 and -3 in the developing mouse coronal suture suggest a key role for Twist in suture initiation and biogenesis. Mech Dev 2000;91:341-5.
20. Merrill AE, Bochukova EG, Brugger SM, Ishii M, Pilz DT, Wall SA, Lyons KM, Wilkie AOM, 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;15:1319-28.
21. Iseki S, Wilkie AOM, Morriss-Kay GM. Fgfr1 and Fgfr2 have distinct differentation-and proliferation-related roles in the developing mouse skull vault. Development 1999;126:5611-20.
22. Guenou H, Kaabeche K, Mee SL, Marie PJ. A role for fibroblast growth factor receptor-2 in the altered osteoblast phenotype induced by twist haploinsufficiency in the Saethre-Chotzen syndrome. Hum Mol Genet 2005;14:1429-39.
23. Connerney J, Andreeva V, Leshem Y, Mercado MA, Dowell K, Yang X, Lindner V, Friesel RE, Spicer DB. Twist1 homodimers enhance FGF responsiveness of the cranial sutures and promote suture closure. Dev Biol 2008;318:323-34.
24. Funato N, Ohtani K, Ohyama K, Kuroda T, Nakamura M. Common regulation of growth arrest and differentiation of osteoblasts by helix-loop-helix factors. Mol Cell Biol 2001;21:7416-28.
25. Chiellini C, Grenningloh G, Cochet O, Scheideler M, Trajanoski Z, Ailhaud G, Dani C, Amri EZ. Stathmin-like 2, a developmentally-associated neuronal marker, is expressed and modulated during osteogenesis of human mesenchymal stem cells. Biochem Biophys Res Commun 2008;374:64-8.
26. Nishimura T, Takeichi M. Shroom3-mediated recruitment of Rho kinases to the apical cell junctions regulates epithelial and neuroepithelial planar remodeling. Development 2008;135:1493-502.
27. Lu N, Heuchel R, Barczyk M, Zhang WM, Gullberg D. Tandem Sp1/Sp3 sites together with an Ets-1 site cooperate to mediate alpha11 integrin chain expression in mesenchymal cells. Matrix Biol 2006;25:118-29. (Pubitemid 43238181)
28. Lomri A, Lemonnier J, Hott M, de Parseval N, Lajeunie E, Munnich A, Renier D, Marie PJ. Increased calvaria cell differentiation and bone matrix formation induced by fibroblast growth factor receptor 2 mutations in Apert syndrome. J Clin Invest 1998;101:1310-17.
29. Britto JA, Moore RL, Evans RD, Hayward RD, Jones BM. Negative autoregulation of fibroblast growth factor receptor 2 expression characterizing cranial development in cases of Apert (P253R mutation) and Pfeiffer (C278F mutation) syndromes and suggesting a basis for differences in their cranial phenotypes. J Neurosurg 2001;95:660-73.
30. Holmes G, Rothschild G, Roy UB, Deng CX, Mansukhani A, Basilico C. Early onset of craniosynostosis in an Apert mouse model reveals critical features of this pathology. Dev Biol 2009;328:273-84.
31. Coussens AK, Wilkinson CR, Hughes IP, Morris CP, van Daal A, Anderson PJ, Powell BC. Unravelling the molecular control of calvarial suture fusion in children with craniosynostosis. BMC Genomics 2007;8:458.
32. Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, Meyers J, Leitch CC, Katsanis N, Sharifi N, Xu FL, Myers LA, Spevak PJ, Cameron DE, De Backer J, Hellemans J, Chen Y, Davis EC, Webb CL, Kress W, Coucke P, Rifkin DB, De Paepe AM, Dietz HC. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 2005;37:275-81.
33. Carinci F, Bodo M, Tosi L, Francioso F, Evangelisti R, Pezzetti F, Scapoli L, Martinelli M, Baroni T, Stabellini G, Carinci P, Bellucci C, Lilli C, Volinia S. Expression profiles of craniosynostosis-derived fibroblasts. Mol Med 2002;8:638-44.
34. Fanganiello RD, Sertié AL, Reis EM, Yeh E, Oliveira NAJ, Bueno DF, Kerkis I, Alonso N, S C, Matsushita H, Freitas R, Verjovski-Almeida S, Passos-Bueno MR. Apert p. Ser252Trp mutation on FGFR2 alters osteogenic potential and gene expression of cranial periosteal cells. Mol Med 2007;13:422-42.