Patterns of Evolutionary Constraints on Genes in Humans
Author Information
Author(s): De Subhajyoti, Lopez-Bigas Nuria, Teichmann Sarah A
Primary Institution: MRC Laboratory of Molecular Biology, Cambridge, UK
Hypothesis
How do evolutionary constraints on genes differ among functional categories in humans compared to other mammals?
Conclusion
The study identifies specific evolutionary constraints on gene categories in humans, revealing unique patterns of mutation and conservation compared to other mammals.
Supporting Evidence
- Transcription factors show a significant excess of nonsynonymous positions under accelerated evolution specifically in humans.
- Immunity related genes evolve rapidly in mammals including humans.
- Genes involved in perception of smell evolve rapidly in all mammals as well as in humans.
Takeaway
This study looks at how different genes in humans change over time compared to other animals, showing that some genes are changing a lot while others stay the same.
Methodology
The study uses a novel framework called 'BaseDiver' to analyze patterns of evolutionary constraints on nonsynonymous coding positions in genes across different functional categories.
Potential Biases
Potential bias due to reliance on common SNPs from the HapMap project, which may not represent the full spectrum of genetic variation.
Limitations
The analysis was limited to common SNPs and may not capture rare variants; also, it focused only on coding regions.
Statistical Information
P-Value
p<0.05
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website