Searching for ancient balanced polymorphisms shared between Neanderthals and Modern Humans

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• dc.contributor.author Viscardi, Lucas Henriques
• dc.contributor.author Paixão-Côrtes, Vanessa Rodrigues
• dc.contributor.author Comas, David, 1969-
• dc.contributor.author Salzano, Francisco Mauro
• dc.contributor.author Rovaris, Diego
• dc.contributor.author Bau, Claiton Dotto
• dc.contributor.author Amorim, Carlos Eduardo G.
• dc.contributor.author Bortolini, Maria Cátira
• dc.date.accessioned 2018-12-12T08:51:32Z
• dc.date.available 2018-12-12T08:51:32Z
• dc.date.issued 2018
• dc.description.abstract Hominin evolution is characterized by adaptive solutions often rooted in behavioral and cognitive changes. If balancing selection had an important and long-lasting impact on the evolution of these traits, it can be hypothesized that genes associated with them should carry an excess of shared polymorphisms (trans- SNPs) across recent Homo species. In this study, we investigate the role of balancing selection in human evolution using available exomes from modern (Homo sapiens) and archaic humans (H. neanderthalensis and Denisovan) for an excess of trans-SNP in two gene sets: one associated with the immune system (IMMS) and another one with behavioral system (BEHS). We identified a significant excess of trans-SNPs in IMMS (N=547), of which six of these located within genes previously associated with schizophrenia. No excess of trans-SNPs was found in BEHS, but five genes in this system harbor potential signals for balancing selection and are associated with psychiatric or neurodevelopmental disorders. Our approach evidenced recent Homo trans-SNPs that have been previously implicated in psychiatric diseases such as schizophrenia, suggesting that a genetic repertoire common to the immune and behavioral systems could have been maintained by balancing selection starting before the split between archaic and modern humans.
• dc.format.mimetype application/pdf
• dc.identifier.citation Viscardi LH, Paixão-Côrtes VR, Comas D, Salzano FM, Rovaris D, Bau CD et al. Searching for ancient balanced polymorphisms shared between Neanderthals and Modern Humans. Genet Mol Biol. 2018;41(1):67-81. DOI 10.1590/1678-4685-GMB-2017-0308
• dc.identifier.doi http://dx.doi.org/10.1590/1678-4685-GMB-2017-0308
• dc.identifier.issn 1415-4757
• dc.identifier.uri http://hdl.handle.net/10230/36038
• dc.language.iso eng
• dc.publisher The Scientific Electronic Library Online (SciELO)
• dc.relation.ispartof Genetics and Molecular Biology. 2018;41(1):67-81
• dc.rights This is an open-access article distributed under the terms of the Creative Commons Attribution License (type CC-BY), which permits unrestricted use, distribution and reproduction in any medium, provided the original article is properly cited. (https://creativecommons.org/licenses/by/4.0/deed.en)
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri https://creativecommons.org/licenses/by/4.0/deed.en
• dc.subject.keyword Human behavior
• dc.subject.keyword Evolution
• dc.subject.keyword Balancing selection
• dc.subject.keyword Immune genes
• dc.subject.keyword Behavioral genes
• dc.title Searching for ancient balanced polymorphisms shared between Neanderthals and Modern Humans
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/publishedVersion