From Phenotype to Genotype And Back Again

Abstract

Traditionally, anthropologists study evolutionary change throughmorphological analysis of fossils and comparative primate data. For the analysis of the genotypephenotype continuum, the current emphasis on genes is misplaced because genes don’t make structure. Developmental processes make structure through the activity of cells that use instructions specified by genes. A critical mechanism underlying any phenotypic trait is the genetically guided change in developmental events that produce the trait. But even when a developmental mechanism is identified, the links between genetically guided instructions and phenotypic outcome are lengthy, complicated, flexible, and sensitive to physical forces of functioning organs. We use the study of craniofacial phenotypes of craniosynostosis (premature closure of sutures) to demonstrate how patterns produced by the covariation of cranial traits cannot always reveal mechanism. Next we turn to encephalization, a critical feature of human evolution that covaries with cranial phenotypes, and show how experimental approaches can be used to analyze mechanism underlying this well-documented pattern in human evolution. With the realization that no single line of evidence can explain the dramatic changes in cranial morphology that characterize human evolution come fundamental changes in the way we conduct anthropological inquiry - collaborative efforts from scientists with diverse expertise will continue to push the field forward.