The Developmental Basis of Quantitative Craniofacial Variation in Humans and Mice.
The Developmental Basis of Quantitative Craniofacial Variation in Humans and Mice.
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DOI：
10.1007/s11692-012-9210-7
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发表时间：
2012-12
影响因子：
2.5
通讯作者：
Hallgrimsson, Benedikt
中科院分区：
文献类型：
--
作者：
Martinez-Abadias, Neus;Mitteroecker, Philipp;Parsons, Trish E.;Esparza, Mireia;Sjovold, Torstein;Rolian, Campbell;Richtsmeier, Joan T.;Hallgrimsson, Benedikt
关键词：
人类头骨是一个复杂而高度整合的结构，长期以来一直吸引着人类学家和进化生物学家。最近对颅面变异的遗传学研究揭示了一个非常复杂和多因素的图景。这些发现与以前的观点形成了对比，以前的观点认为颅骨形态变化的发育基础要简单得多，比如大脑的生长或颅骨软骨相对于颅骨的生长。这些过程已被证明对小鼠的颅形态有重大影响。然而，尚不清楚它们是否与解释人类正常表型变异有关。为了回答这个问题，我们从突变小鼠模型中获得了形状变化的载体，其中颅面表型的发育基础在不同程度上是已知的，并将其与从具有已知谱系的单个人群中获得的人类颅骨构建的同源数据集进行了比较。我们的研究结果表明，与小鼠软骨颅骨生长、大脑生长和体型大小的扰动相关的形状向量在很大程度上与人类的共变轴相对应。这一发现支持了这样一种观点，即颅面变异的发育基础归结为相对少量的关键发育过程，这些过程在小鼠和人类之间是相似的。了解这些过程以及它们如何影响颅面形状，可以为人类颅骨进化变化的发育基础以及颅面形状正常表型变异的发育-遗传基础提供基本见解。
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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