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Genes with human-specific features are primarily involved with brain, immune and metabolic evolution

BACKGROUND: Humans have adapted to widespread changes during the past 2 million years in both environmental and lifestyle factors. This is evident in overall body alterations such as average height and brain size. Although we can appreciate the uniqueness of our species in many aspects, molecular va...

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Detalles Bibliográficos
Autores principales: Bitar, Mainá, Kuiper, Stefanie, O’Brien, Elizabeth A., Barry, Guy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6873653/
https://www.ncbi.nlm.nih.gov/pubmed/31757203
http://dx.doi.org/10.1186/s12859-019-2886-2
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author Bitar, Mainá
Kuiper, Stefanie
O’Brien, Elizabeth A.
Barry, Guy
author_facet Bitar, Mainá
Kuiper, Stefanie
O’Brien, Elizabeth A.
Barry, Guy
author_sort Bitar, Mainá
collection PubMed
description BACKGROUND: Humans have adapted to widespread changes during the past 2 million years in both environmental and lifestyle factors. This is evident in overall body alterations such as average height and brain size. Although we can appreciate the uniqueness of our species in many aspects, molecular variations that drive such changes are far from being fully known and explained. Comparative genomics is able to determine variations in genomic sequence that may provide functional information to better understand species-specific adaptations. A large number of human-specific genomic variations have been reported but no currently available dataset comprises all of these, a problem which contributes to hinder progress in the field. RESULTS: Here we critically update high confidence human-specific genomic variants that mostly associate with protein-coding regions and find 856 related genes. Events that create such human-specificity are mainly gene duplications, the emergence of novel gene regions and sequence and structural alterations. Functional analysis of these human-specific genes identifies adaptations to brain, immune and metabolic systems to be highly involved. We further show that many of these genes may be functionally associated with neural activity and generating the expanded human cortex in dynamic spatial and temporal contexts. CONCLUSIONS: This comprehensive study contributes to the current knowledge by considerably updating the number of human-specific genes following a critical bibliographic survey. Human-specific genes were functionally assessed for the first time to such extent, thus providing unique information. Our results are consistent with environmental changes, such as immune challenges and alterations in diet, as well as neural sophistication, as significant contributors to recent human evolution. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s12859-019-2886-2) contains supplementary material, which is available to authorized users.
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spelling pubmed-68736532019-11-25 Genes with human-specific features are primarily involved with brain, immune and metabolic evolution Bitar, Mainá Kuiper, Stefanie O’Brien, Elizabeth A. Barry, Guy BMC Bioinformatics Research BACKGROUND: Humans have adapted to widespread changes during the past 2 million years in both environmental and lifestyle factors. This is evident in overall body alterations such as average height and brain size. Although we can appreciate the uniqueness of our species in many aspects, molecular variations that drive such changes are far from being fully known and explained. Comparative genomics is able to determine variations in genomic sequence that may provide functional information to better understand species-specific adaptations. A large number of human-specific genomic variations have been reported but no currently available dataset comprises all of these, a problem which contributes to hinder progress in the field. RESULTS: Here we critically update high confidence human-specific genomic variants that mostly associate with protein-coding regions and find 856 related genes. Events that create such human-specificity are mainly gene duplications, the emergence of novel gene regions and sequence and structural alterations. Functional analysis of these human-specific genes identifies adaptations to brain, immune and metabolic systems to be highly involved. We further show that many of these genes may be functionally associated with neural activity and generating the expanded human cortex in dynamic spatial and temporal contexts. CONCLUSIONS: This comprehensive study contributes to the current knowledge by considerably updating the number of human-specific genes following a critical bibliographic survey. Human-specific genes were functionally assessed for the first time to such extent, thus providing unique information. Our results are consistent with environmental changes, such as immune challenges and alterations in diet, as well as neural sophistication, as significant contributors to recent human evolution. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s12859-019-2886-2) contains supplementary material, which is available to authorized users. BioMed Central 2019-11-22 /pmc/articles/PMC6873653/ /pubmed/31757203 http://dx.doi.org/10.1186/s12859-019-2886-2 Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research
Bitar, Mainá
Kuiper, Stefanie
O’Brien, Elizabeth A.
Barry, Guy
Genes with human-specific features are primarily involved with brain, immune and metabolic evolution
title Genes with human-specific features are primarily involved with brain, immune and metabolic evolution
title_full Genes with human-specific features are primarily involved with brain, immune and metabolic evolution
title_fullStr Genes with human-specific features are primarily involved with brain, immune and metabolic evolution
title_full_unstemmed Genes with human-specific features are primarily involved with brain, immune and metabolic evolution
title_short Genes with human-specific features are primarily involved with brain, immune and metabolic evolution
title_sort genes with human-specific features are primarily involved with brain, immune and metabolic evolution
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6873653/
https://www.ncbi.nlm.nih.gov/pubmed/31757203
http://dx.doi.org/10.1186/s12859-019-2886-2
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