Show simple item record Gayà Vidal, Magdalena Albà Soler, Mar 2015-03-24T12:07:47Z 2015-03-24T12:07:47Z 2014
dc.identifier.citation Gayà-Vidal M, Albà MM. Uncovering adaptive evolution in the human lineage. BMC Genomics. 2014; 15: 559. DOI 10.1186/1471-2164-15-599
dc.identifier.issn 1471-2164
dc.description.abstract Background: The recent increase in human polymorphism data, together with the availability of genome sequences from several primate species, provides an unprecedented opportunity to investigate how natural selection has shaped human evolution. Results: We compared human branch-specific substitutions with variation data in the current human population to measure the impact of adaptive evolution on human protein coding genes. The use of single nucleotide polymorphisms (SNPs) with high derived allele frequencies (DAFs) minimized the influence of segregating slightly deleterious mutations and improved the estimation of the number of adaptive sites. Using DAF ≥ 60% we showed that the proportion of adaptive substitutions is 0.2% in the complete gene set. However, the percentage rose to 40% when we focused on genes that are specifically accelerated in the human branch with respect to the chimpanzee branch, or on genes that show signatures of adaptive selection at the codon level by the maximum likelihood based branch-site test. In general, neural genes are enriched in positive selection signatures. Genes with multiple lines of evidence of positive selection include taxilin beta, which is involved in motor nerve regeneration and syntabulin, and is required for the formation of new presynaptic boutons. Conclusions: We combined several methods to detect adaptive evolution in human coding sequences at a genome-wide level. The use of variation data, in addition to sequence divergence information, uncovered previously undetected positive selection signatures in neural genes.
dc.description.sponsorship This work was financially supported by the Ministerio de Economía y Competitividad from the Spanish Government (Plan Nacional project BFU2012-36820), and Institució Catalana de Recerca i Estudis Avançats (ICREA) from Generalitat de Catalunya
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher BioMed Central
dc.relation.ispartof BMC Genomics. 2014;15:559
dc.rights © 2014 Gayà-Vidal and Albà; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated.
dc.subject.other Evolució molecular
dc.subject.other Genoma humà
dc.title Uncovering adaptive evolution in the human lineage
dc.type info:eu-repo/semantics/article
dc.subject.keyword Positive selection
dc.subject.keyword Variation data
dc.subject.keyword Divergence
dc.subject.keyword Nervous system
dc.subject.keyword Human evolution
dc.relation.projectID info:eu-repo/grantAgreement/ES/3PN/BFU2012-36820
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion


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