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Morphological comparison of the craniofacial phenotypes of mouse models expressing the Apert FGFR2 S252W mutation in neural crest- or mesoderm-derived tissues.
Bone 2014; 63:101-9BONE

Abstract

Bones of the craniofacial skeleton are derived from two distinct cell lineages, cranial neural crest and mesoderm, and articulate at sutures and synchondroses which represent major bone growth sites. Premature fusion of cranial suture(s) is associated with craniofacial dysmorphogenesis caused in part by alteration in the growth potential at sutures and can occur as an isolated birth defect or as part of a syndrome, such as Apert syndrome. Conditional expression of the Apert FGFR2 S252W mutation in cells derived from mesoderm was previously shown to be necessary and sufficient to cause coronal craniosynostosis. Here we used micro computed tomography images of mice expressing the Apert mutation constitutively in either mesoderm- or neural crest-derived cells to quantify craniofacial shape variation and suture fusion patterns, and to identify shape changes in craniofacial bones derived from the lineage not expressing the mutation, referred to here as secondary shape changes. Our results show that at postnatal day 0: (i) conditional expression of the FGFR2 S252W mutation in neural crest-derived tissues causes a more severe craniofacial phenotype than when expressed in mesoderm-derived tissues; and (ii) both mesoderm- and neural crest-specific mouse models display secondary shape changes. We also show that premature suture fusion is not necessarily dependent on the expression of the FGFR2 S252W mutation in the sutural mesenchyme. More specifically, it appears that suture fusion patterns in both mouse models are suture-specific resulting from a complex combination of the influence of primary abnormalities of biogenesis or signaling within the sutures, and timing.

Authors+Show Affiliations

Department of Anthropology, Pennsylvania State University, University Park, PA, USA.Department of Anthropology, Pennsylvania State University, University Park, PA, USA.Department of Microbiology, New York University School of Medicine, New York, NY, USA.Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY, USA.Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY, USA.Department of Anthropology, Pennsylvania State University, University Park, PA, USA. Electronic address: jtr505@gmail.com.

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural

Language

eng

PubMed ID

24632501

Citation

Heuzé, Yann, et al. "Morphological Comparison of the Craniofacial Phenotypes of Mouse Models Expressing the Apert FGFR2 S252W Mutation in Neural Crest- or Mesoderm-derived Tissues." Bone, vol. 63, 2014, pp. 101-9.
Heuzé Y, Singh N, Basilico C, et al. Morphological comparison of the craniofacial phenotypes of mouse models expressing the Apert FGFR2 S252W mutation in neural crest- or mesoderm-derived tissues. Bone. 2014;63:101-9.
Heuzé, Y., Singh, N., Basilico, C., Jabs, E. W., Holmes, G., & Richtsmeier, J. T. (2014). Morphological comparison of the craniofacial phenotypes of mouse models expressing the Apert FGFR2 S252W mutation in neural crest- or mesoderm-derived tissues. Bone, 63, pp. 101-9. doi:10.1016/j.bone.2014.03.003.
Heuzé Y, et al. Morphological Comparison of the Craniofacial Phenotypes of Mouse Models Expressing the Apert FGFR2 S252W Mutation in Neural Crest- or Mesoderm-derived Tissues. Bone. 2014;63:101-9. PubMed PMID: 24632501.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Morphological comparison of the craniofacial phenotypes of mouse models expressing the Apert FGFR2 S252W mutation in neural crest- or mesoderm-derived tissues. AU - Heuzé,Yann, AU - Singh,Nandini, AU - Basilico,Claudio, AU - Jabs,Ethylin Wang, AU - Holmes,Greg, AU - Richtsmeier,Joan T, Y1 - 2014/03/13/ PY - 2013/10/08/received PY - 2014/03/04/revised PY - 2014/03/06/accepted PY - 2014/3/18/entrez PY - 2014/3/19/pubmed PY - 2014/12/17/medline KW - Apert syndrome KW - Craniosynostosis KW - FGFR2 KW - Mesoderm KW - Neural crest KW - Suture fusion pattern SP - 101 EP - 9 JF - Bone JO - Bone VL - 63 N2 - Bones of the craniofacial skeleton are derived from two distinct cell lineages, cranial neural crest and mesoderm, and articulate at sutures and synchondroses which represent major bone growth sites. Premature fusion of cranial suture(s) is associated with craniofacial dysmorphogenesis caused in part by alteration in the growth potential at sutures and can occur as an isolated birth defect or as part of a syndrome, such as Apert syndrome. Conditional expression of the Apert FGFR2 S252W mutation in cells derived from mesoderm was previously shown to be necessary and sufficient to cause coronal craniosynostosis. Here we used micro computed tomography images of mice expressing the Apert mutation constitutively in either mesoderm- or neural crest-derived cells to quantify craniofacial shape variation and suture fusion patterns, and to identify shape changes in craniofacial bones derived from the lineage not expressing the mutation, referred to here as secondary shape changes. Our results show that at postnatal day 0: (i) conditional expression of the FGFR2 S252W mutation in neural crest-derived tissues causes a more severe craniofacial phenotype than when expressed in mesoderm-derived tissues; and (ii) both mesoderm- and neural crest-specific mouse models display secondary shape changes. We also show that premature suture fusion is not necessarily dependent on the expression of the FGFR2 S252W mutation in the sutural mesenchyme. More specifically, it appears that suture fusion patterns in both mouse models are suture-specific resulting from a complex combination of the influence of primary abnormalities of biogenesis or signaling within the sutures, and timing. SN - 1873-2763 UR - https://www.unboundmedicine.com/medline/citation/24632501/Morphological_comparison_of_the_craniofacial_phenotypes_of_mouse_models_expressing_the_Apert_FGFR2_S252W_mutation_in_neural_crest__or_mesoderm_derived_tissues_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S8756-3282(14)00077-5 DB - PRIME DP - Unbound Medicine ER -