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Published on: November 13, 2006
Inferring nonneutral evolution from human-chimp-mouse orthologous gene trios
Andrew G Clark1, Stephen Glanowski, Rasmus Nielsen
1Molecular Biology and Genetics, Cornell University, Ithaca, NY 14853, USA.
Science (New York, N.Y.)
|December 13, 2003
Summary
Human and chimpanzee gene comparisons reveal significant evolutionary changes. Accelerated evolution in humans is linked to key biological functions and Mendelian disorders.
Area of Science:
- Evolutionary biology
- Comparative genomics
- Molecular evolution
Background:
- Human and chimpanzee genomes share ~99% sequence identity.
- Divergence of human and chimp lineages offers insights into unique evolutionary changes.
- Comparative sequence analysis is crucial for identifying functionally significant genetic alterations.
Purpose of the Study:
- To identify genes that have undergone natural selection along the human and chimpanzee lineages.
- To compare patterns of nucleotide substitution between human, chimp, and mouse lineages.
- To investigate the functional implications of accelerated evolution in humans.
Main Methods:
- Analysis of aligned gene sequences from humans, chimpanzees, and mice (7645 genes).
- Application of evolutionary models to estimate rates of synonymous and nonsynonymous nucleotide substitution.
- Classification of genes into biological categories to identify functional trends.
Main Results:
- Identified a set of genes with distinct substitution patterns on the human lineage compared to chimp and mouse.
- Detected accelerated evolution in specific functional classes, notably olfaction and nuclear transport.
- Found that genes with human-accelerated evolution are more frequently associated with major Mendelian disorders.
Conclusions:
- Comparative genomics reveals significant adaptive changes differentiating human and chimp evolution.
- Accelerated human evolution impacts key physiological functions and disease susceptibility.
- These findings highlight the genetic basis of human-specific traits and disease predispositions.
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