Distinct selective forces and Neanderthal introgression shaped genetic diversity at genes involved in neurodevelopmental disorders

Abstract In addition to high intelligence, humans evolved specialized social-cognitive skills, which are specifically affected in children with autism spectrum disorder (ASD). Genes affected in ASD represent suitable candidates to study the evolution of human social cognition. We performed an evolut...

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Autores principales:	Alessandra Mozzi, Diego Forni, Rachele Cagliani, Uberto Pozzoli, Mario Clerici, Manuela Sironi
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/2a600848a9634c979c40a043bfc5acef
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spelling	oai:doaj.org-article:2a600848a9634c979c40a043bfc5acef2021-12-02T12:32:55ZDistinct selective forces and Neanderthal introgression shaped genetic diversity at genes involved in neurodevelopmental disorders10.1038/s41598-017-06440-42045-2322https://doaj.org/article/2a600848a9634c979c40a043bfc5acef2017-07-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-06440-4https://doaj.org/toc/2045-2322Abstract In addition to high intelligence, humans evolved specialized social-cognitive skills, which are specifically affected in children with autism spectrum disorder (ASD). Genes affected in ASD represent suitable candidates to study the evolution of human social cognition. We performed an evolutionary analysis on 68 genes associated to neurodevelopmental disorders; our data indicate that genetic diversity was shaped by distinct selective forces, including natural selection and introgression from archaic hominins. We discuss the possibility that segregation distortion during spermatogenesis accounts for a subset of ASD mutations. Finally, we detected modern-human-specific alleles in DYRK1A and TCF4. These variants are located within regions that display chromatin features typical of transcriptional enhancers in several brain areas, strongly suggesting a regulatory role. These SNPs thus represent candidates for association with neurodevelopmental disorders, and await experimental validation in future studies.Alessandra MozziDiego ForniRachele CaglianiUberto PozzoliMario ClericiManuela SironiNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-17 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Alessandra Mozzi Diego Forni Rachele Cagliani Uberto Pozzoli Mario Clerici Manuela Sironi Distinct selective forces and Neanderthal introgression shaped genetic diversity at genes involved in neurodevelopmental disorders
description	Abstract In addition to high intelligence, humans evolved specialized social-cognitive skills, which are specifically affected in children with autism spectrum disorder (ASD). Genes affected in ASD represent suitable candidates to study the evolution of human social cognition. We performed an evolutionary analysis on 68 genes associated to neurodevelopmental disorders; our data indicate that genetic diversity was shaped by distinct selective forces, including natural selection and introgression from archaic hominins. We discuss the possibility that segregation distortion during spermatogenesis accounts for a subset of ASD mutations. Finally, we detected modern-human-specific alleles in DYRK1A and TCF4. These variants are located within regions that display chromatin features typical of transcriptional enhancers in several brain areas, strongly suggesting a regulatory role. These SNPs thus represent candidates for association with neurodevelopmental disorders, and await experimental validation in future studies.
format	article
author	Alessandra Mozzi Diego Forni Rachele Cagliani Uberto Pozzoli Mario Clerici Manuela Sironi
author_facet	Alessandra Mozzi Diego Forni Rachele Cagliani Uberto Pozzoli Mario Clerici Manuela Sironi
author_sort	Alessandra Mozzi
title	Distinct selective forces and Neanderthal introgression shaped genetic diversity at genes involved in neurodevelopmental disorders
title_short	Distinct selective forces and Neanderthal introgression shaped genetic diversity at genes involved in neurodevelopmental disorders
title_full	Distinct selective forces and Neanderthal introgression shaped genetic diversity at genes involved in neurodevelopmental disorders
title_fullStr	Distinct selective forces and Neanderthal introgression shaped genetic diversity at genes involved in neurodevelopmental disorders
title_full_unstemmed	Distinct selective forces and Neanderthal introgression shaped genetic diversity at genes involved in neurodevelopmental disorders
title_sort	distinct selective forces and neanderthal introgression shaped genetic diversity at genes involved in neurodevelopmental disorders
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/2a600848a9634c979c40a043bfc5acef
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_version_	1718393908728168448

Distinct selective forces and Neanderthal introgression shaped genetic diversity at genes involved in neurodevelopmental disorders

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