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Temporal mapping of derived high-frequency gene variants supports the mosaic nature of the evolution of Homo sapiens
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Temporal mapping of derived high-frequency gene variants supports the mosaic nature of the evolution of Homo sapiens
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Temporal mapping of derived high-frequency gene variants supports the mosaic nature of the evolution of Homo sapiens
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Journal Article
Temporal mapping of derived high-frequency gene variants supports the mosaic nature of the evolution of Homo sapiens
2022
Overview
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.
