About our Lab

Summary

The Percival Lab completes research on the genetic and developmental basis of craniofacial variation as part of multi-disciplinary collaborations. We specialize in quantifying the morphology of the skull, the developing face, and the relationship between hard and soft tissues. Mouse models provide a powerful tool to complete experiments in standard conditions with the power to measure and manipulate patterns of gene expression that are the hypothesized basis for variation in human and primate populations.

Normal Skull Variation

Analyses of large samples of mouse skulls from multiple inbred mouse lines, their F1 crosses, and an associated outbred population provide a glimpse of the genetic structure that underlies variation in skull morphology. Genome wide association analysis of the Diversity Outbred sample can lead to the identification of novel genetic variants that are associated with specific morphological changes.

For more details, see Percival, et al. 2018, Warren et al., 2018, & Percival, et al., 2016

Effects of Known Mutations

Collaborative work with developmental biologists has revealed the effect of mutations of genes like Fgfr2, Spry2, and Efnb1 have on skull growth, development and morphology. In several cases, we have found that less severe versions of adult phenotypes are present in the facial features and developing skulls of embryos. This illustrates the importance of early craniofacial development in determining adult skull morphology. Additionally, we have quantified how genetic background modulates the influence of known disease mutations, highlighting the influence of gene interactions on phenotype.

For more details, see Percival, et al., 2017, Percival, et al., 2014, & Percival et al., 2012

Soft Tissue Interactions

Although they may not be preserved in the fossil record, the action of surrounding soft tissues is necessary for the proper formation of the skull. The relationship between the growing brain and the skull have been appreciated by anthropologists for decades. Methods to image brain and skull morphology in the same developing mouse embryos provides an opportunity to directly study this interaction. Additionally, we argue that changes in the regulation of blood vessel growth and development can have a significant impact on critical stages of early skull bone growth and development.

For more details, see Percival, et al., 2017 (Chapter 2), Percival and Richtsmeier, 2013, & Percival and Richtsmeier, 2011 (Chapter 21)