Variation in the Human Mutation Rate
Author Information
Author(s): Alan Hodgkinson, Emmanuel Ladoukakis, Adam Eyre-Walker
Primary Institution: Centre for the Study of Evolution, School of Life Sciences, University of Sussex, Brighton, United Kingdom
Hypothesis
Is there additional variation in the human mutation rate beyond what is known from adjacent nucleotides?
Conclusion
There is substantial cryptic variation in the human mutation rate that is not associated with adjacent nucleotides or the CpG effect.
Supporting Evidence
- The study found a significant excess of coincident SNPs between humans and chimpanzees.
- This excess was not due to simple context effects or shared ancestral polymorphism.
- The variation in mutation rates is greater than that associated with adjacent nucleotides.
Takeaway
Some parts of our DNA change more often than others, and this happens in ways we didn't fully understand before.
Methodology
The study analyzed human and chimpanzee SNPs to identify patterns of coincident SNPs and assess mutation rates.
Potential Biases
Potential underestimation of expected SNPs due to assumptions about mutation patterns.
Limitations
The study may not account for all potential biases in SNP distribution and mutation rates.
Statistical Information
P-Value
<0.0001
Confidence Interval
95% CI (0.81, 0.84)
Statistical Significance
p<0.0001
Digital Object Identifier (DOI)
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