Citation
Gunz, P., Tilot, A.K., Wittfeld, K., Teumer, A., Shapland, C.Y., van Erp, T.G.M., … & Fisher, S.E. (2019). “Neandertal Introgression Sheds Light on Modern Human Endocranial Globularity.” Current Biology, 29(1), 120–127.e5. doi:10.1016/j.cub.2018.10.065. Max Planck Institute for Evolutionary Anthropology / Pääbo lab.
Key findings
- Modern humans with more Neanderthal-derived DNA in specific genomic regions show measurably different endocranial (brain-case) shapes — specifically, reduced globularity.
- Neanderthal skulls are characteristically elongated compared to the globular shape of modern human crania. The study uses modern humans as a “natural experiment” — people carry varying amounts of Neanderthal DNA, and those with more archaic variants in relevant regions have skulls that are slightly more elongated.
- The Neanderthal variants affecting brain shape are located near genes involved in neurogenesis and myelination — specifically UBR4 (linked to generation of basal progenitor cells) and PHLPP1 (linked to myelin production in the cerebellum). These are not cosmetic — they reflect underlying differences in brain development.
- The brain regions most affected include areas relevant to visual-spatial processing and motor integration.
Relevance to this wiki
This paper provides evolutionary context for the autism-specific findings in Pauly et al. 2024 — Neanderthal polymorphisms enriched in autistic probands. Gunz et al. established the basic finding — that Neanderthal DNA influences modern human brain structure — which Pauly et al. then showed is specifically enriched in autistic people. Together, the two papers build a chain: Neanderthal introgression → altered brain morphology → altered connectivity → autistic neurobiology.
For the wiki, this paper anchors the evolutionary dimension of neurodivergence. It is not itself about autism, but it is the foundation on which the autism-specific evolutionary genetics rests.
Limitations
- Correlational (genome–endocast shape association in living humans; no direct measurement of Neanderthal brains).
- Effect sizes are small. The Neanderthal contribution to brain shape variation is real but modest.
- Brain shape is a very coarse proxy for neural function.