A genotype:phenotype approach to testing taxonomic hypotheses in hominids.

Paleontology has long relied on assumptions about the genetic and developmental influences on skeletal variation. The last few decades of developmental genetics have elucidated the genetic pathways involved in making teeth and patterning the dentition. Quantitative genetic analyses have refined this genotype:phenotype map even more, especially for primates. We now have the ability to define dental traits with a fair degree of fidelity to the underlying genetic architecture; for example, the molar module component (MMC) and the premolar-molar module (PMM) that have been defined through quantitative genetic analyses. We leverage an extensive dataset of extant and extinct hominoid dental variation to explore how these two genetically patterned phenotypes have evolved through time. We assess MMC and PMM to test the hypothesis that these two traits reveal a more biologically informed taxonomy at the genus and species levels than do more traditional measurements. Our results indicate that MMC values for hominids fall into two categories and that Homo is derived compared with earlier taxa. We find a more variable, species-level pattern for PMM. These results, in combination with previous research, demonstrate that MMC reflects the phenotypic output of a more evolutionarily stable, or phylogenetically congruent, genetic mechanism, and PMM is a reflection of a more evolutionarily labile mechanism. These results suggest that the human lineage since the split with chimpanzees may not represent as much genus-level variation as has been inferred from traits whose etiologies are not understood.