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Uncovering adaptive evolution in the human lineage.

Magdalena Gayà-Vidal, M Mar Albà1

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Natural selection has shaped human evolution, with adaptive evolution impacting protein-coding genes. Neural genes show significant signatures of positive selection, indicating their crucial role in human development.

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Area of Science:

  • Evolutionary biology
  • Genomics
  • Human genetics

Background:

  • Increasing human polymorphism data and primate genome sequences offer insights into natural selection's role in human evolution.
  • Investigating adaptive evolution requires comparing human genetic data with related species.

Purpose of the Study:

  • To measure the impact of adaptive evolution on human protein-coding genes.
  • To identify genes under positive selection in the human lineage.
  • To explore the role of natural selection in shaping human genetic diversity.

Main Methods:

  • Comparative genomics using human and primate sequences.
  • Analysis of human single nucleotide polymorphisms (SNPs) with high derived allele frequencies (DAFs).
  • Application of maximum likelihood-based branch-site tests for detecting positive selection at the codon level.

Main Results:

  • Adaptive evolution impacts approximately 0.2% of human protein-coding genes genome-wide.
  • Focusing on human-accelerated genes or those with strong selection signatures revealed up to 40% adaptive substitutions.
  • Neural genes were frequently enriched for signatures of positive selection, with specific examples like taxilin beta and syntabulin.

Conclusions:

  • A multi-method approach combining sequence divergence and variation data effectively detects adaptive evolution in human coding sequences.
  • This genome-wide analysis revealed previously unrecognized positive selection signatures, particularly within neural genes.