Department of Anthropology, California State University, Sacramento, California, USA.
Université de Bordeaux, CNRS, MC, PACEA, Pessac, France.
Dev Dyn. 2022 Oct;251(10):1684-1697. doi: 10.1002/dvdy.498. Epub 2022 Jun 3.
Major cell-to-cell signaling pathways, such as the fibroblast growth factors and their four receptors (FGF/FGFR), are conserved across a variety of animal forms. FGF/FGFRs are necessary to produce several "vertebrate-specific" structures, including the vertebrate head. Here, we examine the effects of the FGFR2 S252W mutation associated with Apert syndrome on patterns of cranial integration. Our data comprise micro-computed tomography images of newborn mouse skulls, bred to express the Fgfr2 S252W mutation exclusively in either neural crest or mesoderm-derived tissues, and mice that express the Fgfr2 S252W mutation ubiquitously.
Procrustes-based methods and partial least squares analysis were used to analyze craniofacial integration patterns. We found that deviations in the direction and degree of integrated shape change across the mouse models used in our study were potentially driven by the modular variation generated by differing expression of the Fgfr2 mutation in cranial tissues.
Our overall results demonstrate that covariation patterns can be biased by the spatial distribution and magnitude of variation produced by underlying developmental-genetic mechanisms that often impact the phenotype in disproportionate ways.
多种动物形式中都存在主要的细胞间信号通路，如成纤维细胞生长因子及其四个受体（FGF/FGFR）。FGF/FGFR 对于产生几种“脊椎动物特有的”结构是必需的，包括脊椎动物的头部。在这里，我们研究了与 Apert 综合征相关的 FGFR2 S252W 突变对颅部整合模式的影响。我们的数据包括新生小鼠颅骨的微计算机断层扫描图像，这些小鼠被培育为仅在神经嵴或中胚层来源的组织中表达 Fgfr2 S252W 突变，以及在全身表达 Fgfr2 S252W 突变的小鼠。
基于 Procrustes 的方法和偏最小二乘法分析用于分析颅面整合模式。我们发现，我们研究中使用的小鼠模型中，方向和程度的综合形状变化的偏差可能是由颅组织中 Fgfr2 突变表达产生的模块变化引起的。
我们的总体结果表明，协变模式可能会受到潜在发育遗传机制产生的空间分布和变异幅度的影响，这些机制通常以不成比例的方式影响表型。
