ArticleBMC genomics2014
Uncovering adaptive evolution in the human lineage.
Article in BMC genomics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 42 citations in OpenAlex.
- A General Principle of Neuronal Evolution Reveals a Human-Accelerated Neuron Type Potentially Underlying the High Prevalence of Autism in Humans.Molecular biology and evolution · 2025Article
- Gene regulatory networks analysis for the discovery of prognostic genes in gliomas.Scientific reports · 2025Article
- Adaptive genomic signatures of globally invasive populations of the yellow fever mosquito Aedes aegypti.Nature ecology & evolution · 2025Article
- A general principle of neuronal evolution reveals a human-accelerated neuron type potentially underlying the high prevalence of autism in humans.bioRxiv : the preprint server for biology · 2025Article
- Analysis of Evolutionary Conservation, Expression Level, and Genetic Association at a Genome-wide Scale Reveals Heterogeneity Across Polygenic Phenotypes.Molecular biology and evolution · 2024Article
- Evolutionary Trajectories of New Duplicated and Putative De Novo Genes.Molecular biology and evolution · 2023Article
- The evolution of the human DNA replication timing program.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Tissue-specific impacts of aging and genetics on gene expression patterns in humans.Nature communications · 2022Article
- Two decades of suspect evidence for adaptive molecular evolution-negative selection confounding positive-selection signals.National science review · 2022Article
- An Analysis of Methylome Evolution in Primates.Molecular biology and evolution · 2021Article
- Inferring Genome-Wide Correlations of Mutation Fitness Effects between Populations.Molecular biology and evolution · 2021Article
- Large palindromes on the primate X Chromosome are preserved by natural selection.Genome research · 2021Article
- Molecular evolution and the decline of purifying selection with age.Nature communications · 2021Article
- Positive natural selection in primate genes of the type I interferon response.BMC ecology and evolution · 2021Article
- Human-chimpanzee fused cells reveal cis-regulatory divergence underlying skeletal evolution.Nature genetics · 2021Article
- Positive Selection in Gene Regulatory Factors Suggests Adaptive Pleiotropic Changes During Human Evolution.Frontiers in genetics · 2021Article
- Ancient Evolutionary Origin of Intrinsically Disordered Cancer Risk Regions.Biomolecules · 2020Article
- Article
- Whole genome diversity of inherited chromosomally integrated HHV-6 derived from healthy individuals of diverse geographic origin.Scientific reports · 2018Article
- Detection of Regional Variation in Selection Intensity within Protein-Coding Genes Using DNA Sequence Polymorphism and Divergence.Molecular biology and evolution · 2017Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe 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.
resultsWe 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.
conclusionsWe 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.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.