ArticleScientific reports2022
Temporal mapping of derived high-frequency gene variants supports the mosaic nature of the evolution of Homo sapiens.
Article in Scientific reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5 citing papers in PubMed.
- The emergence of genetic variants linked to brain and cognitive traits in human evolution.Cerebral cortex (New York, N.Y. : 1991) · 2025Article
- A multi-layered integrative analysis reveals a cholesterol metabolic program in outer radial glia with implications for human brain evolution.Development (Cambridge, England) · 2024Article
- A regulatory variant impacting TBX1 expression contributes to basicranial morphology in Homo sapiens.American journal of human genetics · 2024Article
- What made us "hunter-gatherers of words".Frontiers in neuroscience · 2023Article
- Targeted conspiratorial killing, human self-domestication and the evolution of groupishness.Evolutionary human sciences · 2021Article
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6 authors.
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Abstract
Large-scale estimations of the time of emergence of variants are essential to examine hypotheses concerning human evolution with precision. Using an open repository of genetic variant age estimations, we offer here a temporal evaluation of various evolutionarily relevant datasets, such as Homo sapiens-specific variants, high-frequency variants found in genetic windows under positive selection, introgressed variants from extinct human species, as well as putative regulatory variants specific to various brain regions. We find a recurrent bimodal distribution of high-frequency variants, but also evidence for specific enrichments of gene categories in distinct time windows, pointing to different periods of phenotypic changes, resulting in a mosaic. With a temporal classification of genetic mutations in hand, we then applied a machine learning tool to predict what genes have changed more in certain time windows, and which tissues these genes may have impacted more. Overall, we provide a fine-grained temporal mapping of derived variants in Homo sapiens that helps to illuminate the intricate evolutionary history of our species.
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