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Related Experiment Videos

Human-specific amino acid changes found in 103 protein-coding genes.

Takashi Kitano1, Yu-Hua Liu, Shintaroh Ueda

  • 1Division of Population Genetics, National Institute of Genetics, Mishima, Japan.

Molecular Biology and Evolution
|March 12, 2004
PubMed
Summary

Human evolution involved genetic changes after splitting from apes. Analysis of 103 genes reveals some protein-coding genes evolved faster in the human lineage, indicating distinct evolutionary paths.

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Area of Science:

  • Genomics
  • Evolutionary Biology
  • Human Origins

Background:

  • Human evolution is characterized by unique traits differentiating us from great apes.
  • These human-specific characteristics likely arose from genetic mutations in our ancestors after the split from the chimpanzee lineage.
  • Understanding these genetic changes requires comparative analysis of human and great ape genomes.

Purpose of the Study:

  • To identify and analyze genetic changes specific to the human lineage.
  • To compare the evolutionary rates of protein-coding genes between humans and great apes (chimpanzee, gorilla, orangutan).
  • To detect potential human-specific acceleration in amino acid substitutions.

Main Methods:

  • Systematic analysis of 103 protein-coding genes across human, chimpanzee, gorilla, and orangutan.

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  • Sequencing of 18 genes and retrieval of existing sequences from public databases (DDBJ/EMBL/GenBank).
  • Application of statistical tests (acceleration index, Fisher's exact test) to compare nonsynonymous substitution rates.

    • Main Results:

    • Estimated 147 amino acid changes in the human lineage across 26,199 codons (0.56%), suggesting approximately 80,000 changes in the human genome.
    • Six genes showed significantly higher nonsynonymous changes in the human lineage via the acceleration index test.
    • Two genes showed significantly higher nonsynonymous changes in the human lineage via Fisher's exact test.
    • Comparative analysis revealed two genes were more conserved in apes, while one was more conserved in humans.

    Conclusions:

    • A subset of protein-coding genes exhibits distinct evolutionary trajectories in the human lineage post-divergence from apes.
    • These findings highlight specific genetic adaptations contributing to human uniqueness.
    • The study provides insights into the molecular basis of human evolution.