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Updated: Jun 29, 2026
07:09
A Bioinformatics Pipeline for Investigating Molecular Evolution and Gene Expression using RNA-seq
Published on: May 28, 2021
Patterns of evolutionary constraints on genes in humans
Subhajyoti De1, Nuria Lopez-Bigas, Sarah A Teichmann
1MRC Laboratory of Molecular Biology, Hills Road, Cambridge, CB2 2QH, UK. sde@mrc-lmb.cam.ac.uk
BMC Evolutionary Biology
|October 9, 2008
Summary
This study introduces BaseDiver to analyze evolutionary constraints on human genes. It reveals distinct evolutionary patterns for transcription factors, immunity genes, and olfactory genes in humans compared to other mammals.
Area of Science:
- Evolutionary biology
- Genomics
- Comparative genomics
Background:
- Genomic regions evolve at varying rates due to structural and functional constraints.
- Some genomic regions are highly conserved across metazoan evolution, while others evolve rapidly.
- Changes in functional regions, like coding regions, can significantly impact evolution.
Purpose of the Study:
- To introduce a novel framework, BaseDiver, for classifying human gene groups based on evolutionary constraints.
- To analyze patterns of evolutionary pressure on coding regions, specifically nonsynonymous positions.
- To compare evolutionary divergence in humans with other mammals.
Main Methods:
- Developed the BaseDiver framework to classify gene groups.
- Compared nucleotide-level divergence across mammals with human lineage changes.
- Identified evolutionary pressures on nonsynonymous base positions within functional gene categories.
Main Results:
- Transcription factors show excess conserved positions in mammals but altered in humans.
- Immunity-related genes exhibit rapid evolution across mammals, driven by advantageous alleles.
- Olfactory genes evolve rapidly in all mammals, with weak negative selection in humans.
Conclusions:
- The BaseDiver approach identifies evolutionary constraints on Gene Ontology groups.
- It highlights changes in human genes relative to other mammalian species.
- This complements studies focusing solely on genes under positive selection in humans.
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