Human-specific changes in two functional enhancers of FOXP2

FOXP2 is a gene involved in language development and function. Neanderthals and humans share the same coding region of the gene, although the formers are thought to have exhibited less sophisticated language abilities. In this paper, we report on several human-specific changes in two functional enha...

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Detalles Bibliográficos
Autores: Benítez Burraco, Antonio, Torres-Ruiz, Raúl, Gelabert, Pere, Lalueza-Fox, Carles, Rodríguez-Perales, Sandra, García-Bellido, Paloma
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2022
País:España
Institución:Universidad de Sevilla (US)
Repositorio:idUS. Depósito de Investigación de la Universidad de Sevilla
OAI Identifier:oai:idus.us.es:11441/170776
Acceso en línea:https://hdl.handle.net/11441/170776
https://doi.org/10.14715/cmb/2022.68.11.3
Access Level:acceso abierto
Palabra clave:human evolution
language evolution
FOXP2
enhancers
Neanderthals
SMARCC1
Descripción
Sumario:FOXP2 is a gene involved in language development and function. Neanderthals and humans share the same coding region of the gene, although the formers are thought to have exhibited less sophisticated language abilities. In this paper, we report on several human-specific changes in two functional enhancers of FOXP2. Two of these variants are located within the binding sites for the transcription factors POLR2A and SMARCC1, respectively. Interestingly, SMARCC1 is involved in brain development and vitamin D metabolism. We hypothesize that the human specific change in this position might have resulted in a different regulation pattern of FOXP2 expression in our species compared to extinct hominins, with a potential impact on our language abilities.