Hitchhiking of Deleterious Mutations in the Human Genome
Author Information
Author(s): Chun Sung, Fay Justin C., Pritchard Jonathan K.
Primary Institution: Washington University, St. Louis, Missouri, United States of America
Hypothesis
Do deleterious mutations hitchhike to high frequency due to linkage to positively selected sites?
Conclusion
Positive selection significantly impacts deleterious polymorphism, influencing the frequency of certain human disease alleles.
Supporting Evidence
- Deleterious mutations can inhibit the spread of linked adaptive mutations.
- Positive selection can increase the frequency of some deleterious alleles.
- The distribution of disease-associated alleles is altered in hitchhiking regions.
Takeaway
Some bad mutations in our genes can become common because they are linked to good mutations that help us survive.
Methodology
The study compared the distribution of deleterious and neutral SNPs in hitchhiking and non-hitchhiking regions using simulations and empirical data.
Potential Biases
Potential biases in SNP classification and the methods used to detect hitchhiking.
Limitations
The classification of SNPs as deleterious or neutral may not be entirely accurate.
Participant Demographics
Human populations, including European, African, and Asian samples.
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