Titel
Temporal mapping of derived high-frequency gene variants supports the mosaic nature of the evolution of Homo sapiens
Autor*in
Alejandro Andirkó
Universitat de Barcelona
Autor*in
Juan Moriano
Universitat de Barcelona
Autor*in
Alessandro Vitriolo
University of Milan
... show all
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.
Stichwort
Multidisciplinary
Objekt-Typ
Sprache
Englisch [eng]
Persistent identifier
Erschienen in
Titel
Scientific Reports
Band
12
Ausgabe
1
ISSN
2045-2322
Erscheinungsdatum
2022
Publication
Springer Science and Business Media LLC
Erscheinungsdatum
2022
Zugänglichkeit
Rechteangabe
© The Author(s) 2022

Herunterladen

Universität Wien | Universitätsring 1 | 1010 Wien | T +43-1-4277-0