Differential DNA methylation of vocal and facial anatomy genes in modern humans

Changes in potential regulatory elements are thought to be key drivers of phenotypic divergence. However, identifying changes to regulatory elements that underlie human-specific traits has proven very challenging. Here, we use 63 reconstructed and experimentally measured DNA methylation maps of anci...

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Detalles Bibliográficos
Autores: Gokhman, David, García Pérez, Raquel, 1989-, Lizano González, Esther, 1974-, Ferrando-Bernal, Manuel, 1990-, Gelabert Xirinachs, Pere, 1991-, Lalueza Fox, Carles, 1965-, Marquès i Bonet, Tomàs, 1975-, Carmel, Liran
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2020
País:España
Institución:Universitat Pompeu Fabra
Repositorio:Repositorio Digital de la UPF
OAI Identifier:oai:repositori.upf.edu:10230/44282
Acceso en línea:http://hdl.handle.net/10230/44282
http://dx.doi.org/10.1038/s41467-020-15020-6
Access Level:acceso abierto
Palabra clave:DNA methylation
Epigenomics
Evolutionary developmental biology
Evolutionary genetics
Descripción
Sumario:Changes in potential regulatory elements are thought to be key drivers of phenotypic divergence. However, identifying changes to regulatory elements that underlie human-specific traits has proven very challenging. Here, we use 63 reconstructed and experimentally measured DNA methylation maps of ancient and present-day humans, as well as of six chimpanzees, to detect differentially methylated regions that likely emerged in modern humans after the split from Neanderthals and Denisovans. We show that genes associated with face and vocal tract anatomy went through particularly extensive methylation changes. Specifically, we identify widespread hypermethylation in a network of face- and voice-associated genes (SOX9, ACAN, COL2A1, NFIX and XYLT1). We propose that these repression patterns appeared after the split from Neanderthals and Denisovans, and that they might have played a key role in shaping the modern human face and vocal tract.