Alterations in brain size and organization represent some of the most distinctive changes in the emergence of our species. Yet, there is limited understanding of how genetic factors contributed to altered neuroanatomy during human evolution. We integrate the latest findings from molecular anthropology and evolutionary genomics with data from large-scale studies of human neuroimaging genetics. In particular, we aim to determine whether genes implicated in hominid evolution are associated with inter-individual variation in brain structure and function in current human populations.
One of the most striking and unique structural features of the human brain is their “globular” (round) shape. Our closest known cousins, the long-extinct Neandertals, had elongated skulls that are typical of most primates. This striking shape difference is suspected to reflect evolutionary changes in the relative sizes of structures of the human brain, perhaps even in the ways that key brain areas are connected to each other. However, brain tissue doesn’t itself fossilise, so the underlying biological explanation has remained elusive. In collaboration with paleoanthropologists at the MPI for Evolutionary Anthropology (Leipzig) we have developed a new strategy to investigate this question, bringing together fossil skull data, brain imaging, and genomics. For a description of our first work in this area, identifying initial candidate genes, see here. We have later scaled-up our approach for investigations of larger samples including the UK Biobank, to reveal additional genetic loci associated with globularity, and to indicate how this fascinating trait is linked to other aspects of human biology.
Together with Dr Jason Stein, we are the driving force of the ENIGMA Evolution working group. The ENIGMA (Enhancing Neuro-Imaging Genetics through Meta-Analysis) Consortium is an international effort that brings together researchers in imaging genomics, neurology, and psychiatry to understand brain structure and function. This working group leverages the world’s largest human neuroimaging genetics consortium to determine whether and how evolutionary intersting parts of the genome influence the structure and function of the human brain.
Example publications
Goltermann*, O., Alagöz*, G., Molz, B., & Fisher, S. E. (2024). Neuroimaging genomics as a window into the evolution of human sulcal organization. Cerebral Cortex, 34(3): bhae078. doi:10.1093/cercor/bhae078. [pdf]
Alagöz, G., Molz, B., Eising, E., Schijven, D., Francks, C., Jason L., S., & Fisher, S. E. (2022). Using neuroimaging genomics to investigate the evolution of human brain structure. Proceedings of the National Academy of Sciences of the United States of America, 119(40): e2200638119. doi:10.1073/pnas.2200638119. [pdf]
Tilot, A.K., et al.(2021). The evolutionary history of common genetic variants influencing human cortical surface area. Cerebral Cortex, 31, (4), 1873–1887, doi:10.1093/cercor/bhaa327. [pdf]
Gunz, P., et al. (2019). Neandertal introgression sheds light on modern human endocranial globularity. Current Biology, 29(1), 120-127. doi:10.1016/j.cub.2018.10.065. [pdf]
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