Hotspots of Biased Nucleotide Substitutions in Human Genes
Author Information
Author(s): Jonas Berglund, Katherine S. Pollard, Matthew T. Webster
Primary Institution: Uppsala University, Uppsala, Sweden
Hypothesis
A recombination-associated process, such as biased gene conversion, is driving fixation of GC alleles in the human genome.
Conclusion
The study found that accelerated exons in human genes exhibit biased patterns of nucleotide substitutions, suggesting a significant role of biased gene conversion in human evolution.
Supporting Evidence
- Accelerated exons show a significant tendency to contain clusters of AT-to-GC biased substitutions.
- These exons occur in regions with elevated male recombination rates.
- The study identified 83 accelerated exons with a false discovery rate less than 5%.
- The mean length of accelerated exons is significantly higher than the average length of exons in the dataset.
Takeaway
Some parts of our DNA change faster than others, and this study shows that these changes are often due to a process that favors certain types of mutations.
Methodology
The study analyzed alignments of 10,238 human genes to their orthologues in chimpanzee and macaque using a likelihood ratio test to identify accelerated rates of base substitutions.
Potential Biases
Potential biases in the interpretation of positive selection due to the influence of biased gene conversion.
Limitations
The study's findings may not apply universally across all genes, as not all accelerated exons exhibited biased substitution patterns.
Statistical Information
P-Value
p<2.2 × 10−16
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website