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Published on: August 24, 2013
Natural selection on protein-coding genes in the human genome
Carlos D Bustamante1, Adi Fledel-Alon, Scott Williamson
1Department of Biological Statistics and Computational Biology, 101 Biotechnology Building, Cornell University, Ithaca, New York 14853, USA. cdb28@cornell.edu
Natural selection has significantly shaped human molecular evolution, with many genes showing rapid amino acid evolution or evidence of purifying selection. This study reveals variation in selection patterns across different biological processes.
Area of Science:
- Evolutionary biology
- Molecular evolution
- Genomics
Background:
- Comparing DNA polymorphism within species to interspecies divergence aids in identifying molecular adaptation and purifying selection.
- Species exhibit varying degrees of molecular evolution driven by weak negative and positive Darwinian selection.
Purpose of the Study:
- To investigate the impact of natural selection on recent human molecular evolution.
- To contrast patterns of coding sequence polymorphism in humans with divergence between humans and chimpanzees.
Main Methods:
- Direct sequencing of coding sequences for over 11,000 genes in 39 humans.
- Analysis of DNA polymorphism within humans and divergence between human and chimpanzee species.
Main Results:
- Strong evidence for natural selection shaping recent human molecular evolution was found.
- 304 loci (9.0%) showed rapid amino acid evolution, indicating positive selection.
- 813 loci (13.5%) exhibited a lack of amino acid differences, suggesting negative or balancing selection.
Conclusions:
- The distribution of selected genes varies across biological processes and molecular functions.
- Transcription factors show an excess of rapidly evolving genes.
- Cytoskeletal proteins display high polymorphism within humans and low divergence between humans and chimpanzees.
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