Searching for ancient balanced polymorphisms shared between Neanderthals and Modern Humans
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 share...
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doaj-7b6a3241d7b74811ab5af097ebcfdb9c2020-11-25T02:43:20ZengSociedade Brasileira de GenéticaGenetics and Molecular Biology1678-4685411678110.1590/1678-4685-gmb-2017-0308S1415-47572018000100067Searching for ancient balanced polymorphisms shared between Neanderthals and Modern HumansLucas Henriques ViscardiVanessa Rodrigues Paixão-CôrtesDavid ComasFrancisco Mauro SalzanoDiego RovarisClaiton Dotto BauCarlos Eduardo G. AmorimMaria Cátira BortoliniAbstract 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100067&lng=en&tlng=enHuman behaviorevolutionbalancing selectionimmune genesbehavioral genes |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Lucas Henriques Viscardi Vanessa Rodrigues Paixão-Côrtes David Comas Francisco Mauro Salzano Diego Rovaris Claiton Dotto Bau Carlos Eduardo G. Amorim Maria Cátira Bortolini |
spellingShingle |
Lucas Henriques Viscardi Vanessa Rodrigues Paixão-Côrtes David Comas Francisco Mauro Salzano Diego Rovaris Claiton Dotto Bau Carlos Eduardo G. Amorim Maria Cátira Bortolini Searching for ancient balanced polymorphisms shared between Neanderthals and Modern Humans Genetics and Molecular Biology Human behavior evolution balancing selection immune genes behavioral genes |
author_facet |
Lucas Henriques Viscardi Vanessa Rodrigues Paixão-Côrtes David Comas Francisco Mauro Salzano Diego Rovaris Claiton Dotto Bau Carlos Eduardo G. Amorim Maria Cátira Bortolini |
author_sort |
Lucas Henriques Viscardi |
title |
Searching for ancient balanced polymorphisms shared between Neanderthals and Modern Humans |
title_short |
Searching for ancient balanced polymorphisms shared between Neanderthals and Modern Humans |
title_full |
Searching for ancient balanced polymorphisms shared between Neanderthals and Modern Humans |
title_fullStr |
Searching for ancient balanced polymorphisms shared between Neanderthals and Modern Humans |
title_full_unstemmed |
Searching for ancient balanced polymorphisms shared between Neanderthals and Modern Humans |
title_sort |
searching for ancient balanced polymorphisms shared between neanderthals and modern humans |
publisher |
Sociedade Brasileira de Genética |
series |
Genetics and Molecular Biology |
issn |
1678-4685 |
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. |
topic |
Human behavior evolution balancing selection immune genes behavioral genes |
url |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100067&lng=en&tlng=en |
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