Unique Sex-Based Approach Identifies Transcriptomic Biomarkers Associated with Non-Syndromic Craniosynostosis

Gene Regulation and Systems Biology

Volumn 2012, Issue 6, 2012, Pages 81-92

  Stamper, Brendan D ^a   Park, Sarah S ^a   Beyer, Richard P ^b   Bammler, Theo K ^b   Cunningham, Michael L ^a  

^a SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

Author keywords

Craniosynostosis; Gene expression; RUNX2; Sex predilection

Indexed keywords

ARTICLE; CONTROLLED STUDY; CRANIOFACIAL SYNOSTOSIS; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; DISEASE MARKER; DOWN REGULATION; FBN2 GENE; FEMALE; FREQUENCY ANALYSIS; GENE; GENE EXPRESSION REGULATION; HUMAN; HUMAN CELL; HUMAN TISSUE; IGF2BP3 GENE; ISOLATED SAGITTAL SYNOSTOSIS; MAJOR CLINICAL STUDY; MALE; METOPIC SYNOSTOSIS; MICROARRAY ANALYSIS; NON SYNDROMIC CRANIOSYNOSTOSIS; NUCLEOTIDE SEQUENCE; PDE1C GENE; RUNX2 GENE; SEX; TINAGL1 GENE; TRANSCRIPTOMICS; UNILATERAL CORONAL SYNOSTOSIS; UPREGULATION;

EID: 84863770461     PISSN: None     EISSN: 11776250     Source Type: Journal    
DOI: 10.4137/GRSB.S9693     Document Type: Article

References (38)

1. Lajeunie E, Le Merrer M, Bonaiti-Pellie C, Marchac D, Renier D. Genetic study of nonsyndromic coronal craniosynostosis. Am J Med Genet. 1995;55: 500-4.
2. Hehr U, Muenke M. Craniosynostosis syndromes: from genes to premature fusion of skull bones. Mol Genet Metab. 1999;68:139-51.
3. Passos-Bueno MR, Serti Eacute AE, Jehee FS, Fanganiello R, Yeh E. Genetics of craniosynostosis: genes, syndromes, mutations and genotypephenotype correlations. Front Oral Biol. 2008;12:107-43.
4. Mulliken JB, Gripp KW, Stolle CA, Steinberger D, Muller U. Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis). Plast Reconstr Surg. 2004;113:1899-909.
5. Renier D, El-Ghouzzi V, Bonaventure J, Le Merrer M, Lajeunie E. Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome. J Neurosurg. 2000;92: 631-6.
6. Selber J, Reid RR, Chike-Obi CJ, et al. The changing epidemiologic spectrum of single-suture synostoses. Plast Reconstr Surg. 2008;122: 527-33.
7. van der Meulen J, van der Hulst R, van Adrichem L, et al. The increase of metopic synostosis: a pan-European observation. J Craniofac Surg. 2009; 20:283-6.
8. Cohen MMJ. Epidemiology of Craniosynostosis. In: Craniosynostosis, 2nd ed. New York: Oxford University Press; 2000.
9. Speltz ML, Kapp-Simon K, Collett B, et al. Neurodevelopment of infants with single-suture craniosynostosis: presurgery comparisons with casematched controls. Plast Reconstr Surg. 2007;119:1874-81.
10. Bengtsson H, Simpson K, Bullard J, Hansen K. aroma. affymetrix: A generic framework in R for analyzing small to very large Affymetrix data sets in bounded memory. Technical Report. 2008;745:1-9.
11. Smyth GK. Linear models and empirical bayes methods for assessing differential expression in microarray experiments. Stat Appl Genet Mol Biol. 2004;3:Article 3.
12. Gentleman RC, Carey VJ, Bates DM, et al. Bioconductor: open software development for computational biology and bioinformatics. Genome Biol. 2004;5:R80.
13. Benjamini Y, Hochberg Y. Controlling the false discovery rate: a practical and powerful approach to multiple testing. In: Journal of the Royal Statistical Society Series B; 1995:289-300.
14. Lajeunie E, El Ghouzzi V, Le Merrer M, Munnich A, Bonaventure J, Renier D. Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation. J Med Genet. 1999;36: 9-13.
15. Taniuchi K, Nishimori I, Hollingsworth MA. Intracellular CD24 inhibits cell invasion by posttranscriptional regulation of BART through interaction with G3BP. Cancer Res. 2011;71:895-905.
16. Stamper BD, Park SS, Beyer RP, et al. Differential expression of extracellular matrix-mediated pathways in single-suture craniosynostosis. PLoS One. 2011;6:e26557.
17. Nacamuli RP, Fong KD, Warren SM, et al. Markers of osteoblast differentiation in fusing and nonfusing cranial sutures. Plast Reconstr Surg. 2003;112:1328-35.
18. el Ghouzzi V, Le Merrer M, Perrin-Schmitt F, et al. Mutations of the TWIST gene in the Saethre-Chotzen syndrome. Nat Genet. 1997;15:42-6.
19. Seto ML, Hing AV, Chang J, et al. Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. Am J Med Genet A. 2007;143:678-86.
20. 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:2203-10.
21. Danciu TE, Adam RM, Naruse K, Freeman MR, Hauschka PV. Calcium regulates the PI3K-Akt pathway in stretched osteoblasts. FEBS Lett. 2003;536:193-7.
22. Yang S, Xu H, Yu S, et al. Foxo1 mediates insulin-like growth factor 1 (IGF1)/insulin regulation of osteocalcin expression by antagonizing Runx2 in osteoblasts. J Biol Chem. 2011;286:19149-58.
23. Suvasini R, Shruti B, Thota B, et al. IGF-2 binding protein-3 (IGF2BP3) is a glioblastoma-specific marker which activates PI3-kinase/map-kinase pathways by modulating IGF-2. J Biol Chem. 2011.
24. Smaldone S, Carta L, Ramirez F. Establishment of fibrillin-deficient osteoprogenitor cell lines identifies molecular abnormalities associated with extracellular matrix perturbation of osteogenic differentiation. Cell Tissue Res. 2011;344:511-7.
25. Alliston T, Choy L, Ducy P, Karsenty G, Derynck R. TGF-beta-induced repression of CBFA1 by Smad3 decreases cbfa1 and osteocalcin expression and inhibits osteoblast differentiation. EMBO J. 2001;20:2254-72.
26. Nistala H, Lee-Arteaga S, Smaldone S, et al. Fibrillin-1 and-2 differentially modulate endogenous TGF-beta and BMP bioavailability during bone formation. J Cell Biol. 2010;190:1107-21.
27. Loeys BL, Chen J, Neptune ER, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet. 2005;37:275-81.
28. 2>>level. PLoS One. 2009;4:e7330.
29. Gupta PA, Putnam EA, Carmical SG, et al. Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. Hum Mutat. 2002;19:39-48.
30. Dietz HC, Cutting GR, Pyeritz RE, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature. 1991;352: 337-9.
31. Sood S, Eldadah ZA, Krause WL, McIntosh I, Dietz HC. Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. Nat Genet. 1996;12:209-11.
32. Wang M, Mathews KR, Imaizumi K, et al. P1148A in fibrillin-1 is not a mutation anymore. Nat Genet. 1997;15:12.
33. Shprintzen RJ, Goldberg RB. A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias. J Craniofac Genet Dev Biol. 1982;2:65-74.
34. Carta L, Pereira L, Arteaga-Solis E, et al. Fibrillins 1 and 2 perform partially overlapping functions during aortic development. J Biol Chem. 2006; 281:8016-23.
35. Li D, Mukai K, Suzuki T, et al. Adrenocortical zonation factor 1 is a novel matricellular protein promoting integrin-mediated adhesion of adrenocortical and vascular smooth muscle cells. FEBS J. 2007;274: 2506-22.
36. Igarashi T, Tajiri Y, Sakurai M, et al. Tubulointerstitial nephritis antigenlike 1 is expressed in extraembryonic tissues and interacts with laminin 1 in the Reichert membrane at postimplantation in the mouse. Biol Reprod. 2009;81:948-55.
37. Brown LJ, Alawoki M, Crawford ME, et al. Lipocalin-7 is a matricellular regulator of angiogenesis. PLoS One. 2010;5:e13905.
38. Kang JS, Alliston T, Delston R, Derynck R. Repression of Runx2 function by TGF-beta through recruitment of class II histone deacetylases by Smad3. EMBO J. 2005;24:2543-55.