The Developmental Basis of Quantitative Craniofacial Variation in Humans and Mice |
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Authors: | Neus Martínez-Abadías Philipp Mitteroecker Trish E. Parsons Mireia Esparza Torstein Sj?vold Campbell Rolian Joan T. Richtsmeier Benedikt Hallgrímsson |
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Affiliation: | 1. Department of Anthropology, Pennsylvania State University, University Park, PA, USA 6. CRG, Center for Genomic Regulation, Dr. Aiguader, 88, 08003, Barcelona, Spain 2. Department of Theoretical Biology, University of Vienna, Vienna, Austria 3. Department of Cell Biology and Anatomy, Faculty of Medicine, McCaig Institute for Bone and Joint Research, Alberta Children??s Hospital Research Institute, University of Calgary, Calgary, Canada 4. Department de Biologia Animal, Secci?? d??Antropologia, Universitat de Barcelona, Barcelona, Spain 5. Osteologiska enheten, Stockholms Universitet, Stockholm, Sweden
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Abstract: | The human skull is a complex and highly integrated structure that has long held the fascination of anthropologists and evolutionary biologists. Recent studies of the genetics of craniofacial variation reveal a very complex and multifactorial picture. These findings contrast with older ideas that posit much simpler developmental bases for variation in cranial morphology such as the growth of the brain or the growth of the chondrocranium relative to the dermatocranium. Such processes have been shown to have major effects on cranial morphology in mice. It is not known, however, whether they are relevant to explaining normal phenotypic variation in humans. To answer this question, we obtained vectors of shape change from mutant mouse models in which the developmental basis for the craniofacial phenotype is known to varying degrees, and compared these to a homologous dataset constructed from human crania obtained from a single population with a known genealogy. Our results show that the shape vectors associated with perturbations to chondrocranial growth, brain growth, and body size in mice do largely correspond to axes of covariation in humans. This finding supports the view that the developmental basis for craniofacial variation funnels down to a relatively small number of key developmental processes that are similar across mice and humans. Understanding these processes and how they influence craniofacial shape provides fundamental insights into the developmental basis for evolutionary change in the human skull as well as the developmental-genetic basis for normal phenotypic variation in craniofacial form. |
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