Pervasive Hitchhiking at Coding and Regulatory Sites in Humans
2009

Pervasive Hitchhiking in Humans

Sample size: 71 publication 10 minutes Evidence: high

Author Information

Author(s): Cai James J., Macpherson J. Michael, Sella Guy, Petrov Dmitri A.

Primary Institution: Stanford University

Hypothesis

Is adaptation frequent in the human genome compared to other species?

Conclusion

Natural selection at both coding and regulatory sites significantly reduces neutral polymorphism in the human genome.

Supporting Evidence

  • Neutral polymorphism is lower in regions of lower recombination.
  • Higher functional density correlates with lower levels of neutral polymorphism.
  • The effects of natural selection at linked sites cannot be ignored.

Takeaway

This study found that natural selection affects how much genetic variation we see in humans, especially in areas of the genome that are important for function.

Methodology

The study analyzed patterns of neutral polymorphism in humans using two genome-wide SNP datasets.

Potential Biases

Potential biases due to demographic history and SNP ascertainment methods.

Limitations

The study may be affected by ascertainment biases in SNP discovery.

Participant Demographics

Individuals of mixed ancestry.

Statistical Information

P-Value

p<0.001

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1371/journal.pgen.1000336

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