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Microsatellite variation and recombination rate in the human genome
1Department of Ecology and Evolutionary Biology, University of Arizona, Tucson, Arizona 85721, USA. payseur@u.arizona.edu
Genetics
|November 7, 2000
Summary
Background selection, a mechanism removing deleterious mutations, is predicted to correlate with genetic variation. This study found no strong evidence for this correlation in human microsatellite polymorphism, suggesting background selection is not a primary driver of variation.
Area of Science:
- Population Genetics
- Molecular Evolution
- Human Genomics
Background:
- Background selection purifies populations by removing deleterious mutations.
- This process is predicted to increase neutral genetic variation at higher recombination rates.
- Previous studies have yielded conflicting evidence regarding this prediction.
Purpose of the Study:
- To test the prediction that background selection positively correlates with neutral genetic variation.
- To investigate the relationship between recombination rate and microsatellite polymorphism in humans.
- To determine the role of background selection in shaping human genetic diversity.
Main Methods:
- Analysis of published microsatellite polymorphism data from 28 unrelated Europeans.
- Estimation of recombination rates using genetic and physical maps, including chromosome 22 and genome-wide data.
- Comparison of microsatellite variation levels across regions with varying recombination rates.
Main Results:
- No significant correlation was observed between microsatellite variation and recombination rate across 61 loci on chromosome 22.
- Genome-wide analyses also failed to show a strong positive correlation between recombination rate and polymorphism.
- A weak positive correlation was suggested for loci with at least 20 repeats, but overall, background selection did not appear to be a major determinant of microsatellite variation.
Conclusions:
- The findings do not support the prediction of a strong positive correlation between recombination rate and neutral genetic variation driven by background selection in humans.
- Background selection may not be a primary factor influencing microsatellite polymorphism levels in the human genome.
- Further research may be needed to explore other evolutionary forces shaping genetic variation.
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