Morphological comparison of the craniofacial phenotypes of mouse models expressing the apert FGFR2 S252W mutation in neural crest- or mesoderm-derived tissues

Bone

Volumn 63, Issue , 2014, Pages 101-109

  Heuzé, Yann ^a   Singh, Nandini ^a   Basilico, Claudio ^b   Jabs, Ethylin Wang ^c   Holmes, Greg ^c   Richtsmeier, Joan T ^a  

^a PENNSYLVANIA STATE UNIVERSITY   (United States)

^b NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Apert syndrome; Craniosynostosis; FGFR2; Mesoderm; Neural crest; Suture fusion pattern

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2 PROTEIN, MOUSE;

ACROCEPHALOSYNDACTYLY; ANIMAL TISSUE; ARTICLE; BIOGENESIS; CRANIAL SUTURE; CRANIOFACIAL DEVELOPMENT; CRANIOFACIAL MORPHOLOGY; CRANIOFACIAL SYNOSTOSIS; FGFR2 S252W GENE; GENE EXPRESSION; GENE MUTATION; MESENCHYME; MESODERM; MICRO-COMPUTED TOMOGRAPHY; MOUSE; MOUSE MODEL; NEURAL CREST; NONHUMAN; PERINATAL PERIOD; PHENOTYPE; SIGNAL TRANSDUCTION; ANIMAL; DISEASE MODEL; EMBRYOLOGY; FACIAL BONE; GENETICS; MUTATION; NEWBORN; SKULL;

ANIMALS; ANIMALS, NEWBORN; DISEASE MODELS, ANIMAL; FACIAL BONES; MESODERM; MICE; MUTATION; NEURAL CREST; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; SKULL;

EID: 84896971754     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2014.03.003     Document Type: Article

References (40)

1. Jiang X., Iseki S., Maxson R.E., Sucov H.M., Morriss-Kay G.M. Tissue origins and interactions in the mammalian skull vault. Dev Biol 2002, 241:106-116.
2. McBratney-Owen B., Iseki S., Bamforth S.D., Olsen B.R., Morriss-Kay G.M. Development and tissue origins of the mammalian cranial base. Dev Biol 2008, 322:121-132.
3. Yoshida T., Vivatbutsiri P., Morriss-Kay G., Saga Y., Iseki S. Cell lineage in mammalian craniofacial mesenchyme. Mech Dev 2008, 125:797-808.
4. Opperman L.A. Cranial sutures as intramembranous bone growth sites. Dev Dyn 2000, 219:472-485.
5. Johnson D., Wilkie A.O.M. Craniosynostosis. Eur J Hum Genet 2011, 19:369-376.
6. Cohen M.M., MacLean R.E. Craniosynostosis: diagnosis, evaluation, and management 2000, Oxford University Press, USA. 2nd ed.
7. Cohen M.M., Kreiborg S., Lammer E.J., Cordero J.F., Mastroiacovo P., Erickson J.D., et al. Birth prevalence study of the Apert syndrome. Am J Med Genet 1992, 42:655-659.
8. Wilkie A.O., Slaney S.F., Oldridge M., Poole M.D., Ashworth G.J., Hockley A.D., et al. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet 1995, 9:165-172.
9. Allanson J.E., Cunniff C., Hoyme H.E., McGaughran J., Muenke M., Neri G. Elements of morphology: standard terminology for the head and face. Am J Med Genet A 2009, 149A:6-28.
10. Cunningham M.L., Seto M.L., Ratisoontorn C., Heike C.L., Hing A.V. Syndromic craniosynostosis: from history to hydrogen bonds. Orthod Craniofac Res 2007, 10:67-81.
11. Danielian P.S., Muccino D., Rowitch D.H., Michael S.K., McMahon A.P. Modification of gene activity in mouse embryos in utero by a tamoxifen-inducible form of Cre recombinase. Curr Biol 1998, 8:1323-1326.
12. Saga Y., Miyagawa-Tomita S., Takagi A., Kitajima S., Miyazaki J.i., Inoue T. MesP1 is expressed in the heart precursor cells and required for the formation of a single heart tube. Development 1999, 126:3437-3447.
13. Chen L., Li D., Li C., Engel A., Deng C.-X. A Ser252Trp [corrected] substitution in mouse fibroblast growth factor receptor 2 (Fgfr2) results in craniosynostosis. Bone 2003, 33:169-178.
14. Holmes G., Rothschild G., Roy U.B., Deng C.-X., Mansukhani A., Basilico C. Early onset of craniosynostosis in an Apert mouse model reveals critical features of this pathology. Dev Biol 2009, 328:273-284.
15. Soriano P. Generalized lacZ expression with the ROSA26 Cre reporter strain. Nat Genet 1999, 21:70-71.
16. Holmes G., Basilico C. Mesodermal expression of Fgfr2S252W is necessary and sufficient to induce craniosynostosis in a mouse model of Apert syndrome. Dev Biol 2012, 368:283-293.
17. Merrill A.E., Bochukova E.G., Brugger S.M., Ishii M., Pilz D.T., Wall S.A., et al. 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.
18. Aldridge K., Hill C.A., Austin J.R., Percival C., Martinez-Abadias N., Neuberger T., et al. Brain phenotypes in two FGFR2 mouse models for Apert syndrome. Dev Dyn 2010, 239:987-997.
19. Percival C.J., Wang Y., Zhou X., Jabs E.W., Richtsmeier J.T. The effect of a Beare-Stevenson syndrome Fgfr2 Y394C mutation on early craniofacial bone volume and relative bone mineral density in mice. J Anat 2012, 221:434-442.
20. Wang Y., Zhou X., Oberoi K., Phelps R., Couwenhoven R., Sun M., et al. p38 inhibition ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice. J Clin Invest 2012, 122:2153-2164.
21. Martínez-Abadías N., Motch S.M., Pankratz T.L., Wang Y., Aldridge K., Jabs E.W., et al. Tissue-specific responses to aberrant FGF signaling in complex head phenotypes. Dev Dyn 2013, 242:80-94.
22. Moss M.L., Young R.W. A functional approach to craniology. Am J Phys Anthropol 1960, 18:281-292.
23. Olson E.C., Miller R.L. Morphological integration 1958, University of Chicago Press. 1st ed.
24. Sanes J.R., Rubenstein J.L., Nicolas J.F. Use of a recombinant retrovirus to study post-implantation cell lineage in mouse embryos. EMBO J 1986, 5:3133-3142.
25. Rohlf F., Slice D. Extensions of the Procrustes method for the optimal superimposition of landmarks. Syst Zool 1990, 39:40-59.
26. Dryden I.L., Mardia K.V. Statistical shape analysis 1998, Wiley, Chichester.
27. Mitteroecker P., Gunz P. Advances in geometric morphometrics. Evol Biol 2009, 36:235-247.
28. Jolliffe I.T. Principal component analysis 2002, Springer, New York.
29. Lewis A.E., Vasudevan H.N., O'Neill A.K., Soriano P., Bush J.O. The widely used Wnt1-Cre transgene causes developmental phenotypes by ectopic activation of Wnt signaling. Dev Biol 2013, 379:229-234.
30. Richtsmeier J.T., Flaherty K. Hand in glove: brain and skull in development and dysmorphogenesis. Acta Neuropathol 2013, 125:469-489.
31. Richtsmeier J.T., Baxter L.L., Reeves R.H. Parallels of craniofacial maldevelopment in Down syndrome and Ts65Dn mice. Dev Dyn 2000, 217:137-145.
32. Hallgrímsson B., Willmore K., Hall B.K. Canalization, developmental stability, and morphological integration in primate limbs. Am J Phys Anthropol 2002, (Suppl. 35):131-158.
33. Willmore K.E., Zelditch M.L., Young N., Ah-Seng A., Lozanoff S., Hallgrímsson B. Canalization and developmental stability in the Brachyrrhine mouse. J Anat 2006, 208:361-372.
34. Parsons T.E., Kristensen E., Hornung L., Diewert V.M., Boyd S.K., German R.Z., et al. Phenotypic variability and craniofacial dysmorphology: increased shape variance in a mouse model for cleft lip. J Anat 2008, 212:135-143.
35. Wang Y., Xiao R., Yang F., Karim B.O., Iacovelli A.J., Cai J., et al. Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse. Development 2005, 132:3537-3548.
36. Purushothaman R., Cox T.C., Maga A.M., Cunningham M.L. Facial suture synostosis of newborn Fgfr1(P250R/+) and Fgfr2(S252W/+) mouse models of Pfeiffer and Apert syndromes. Birth Defects Res A Clin Mol Teratol 2011, 91:603-609.
37. Martínez-Abadías N., Holmes G., Pankratz T., Wang Y., Zhou X., Jabs E.W., et al. From shape to cells: mouse models reveal mechanisms altering palate development in Apert syndrome. Dis Model Mech 2013, 6:768-779.
38. Komatsu Y., Yu P.B., Kamiya N., Pan H., Fukuda T., Scott G.J., et al. Augmentation of Smad-dependent BMP signaling in neural crest cells causes craniosynostosis in mice. J Bone Miner Res 2013, 28:1422-1433.
39. Justice C.M., Yagnik G., Kim Y., Peter I., Jabs E.W., Erazo M., 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.
40. McGrath J., Gerety P.A., Derderian C.A., Steinbacher D.M., Vossough A., Bartlett S.P., et al. Differential closure of the spheno-occipital synchondrosis in syndromic craniosynostosis. Plast Reconstr Surg 2012, 130:681e-689e.