Natural Selection on Human Cis-Elements
Author Information
Author(s): Sethupathy Praveen, Giang Hoa, Plotkin Joshua B., Hannenhalli Sridhar
Primary Institution: University of Pennsylvania
Hypothesis
Polymorphisms in the non-coding portion of the human genome underlie much of the phenotypic variability among humans and between humans and other primates.
Conclusion
The study provides evidence for positive selection on putative transcription factor binding sites in human proximal promoters.
Supporting Evidence
- The study found that human-specific and primate-specific binding sites are likely evolving under positive selection.
- Genes with high frequency derived alleles in their proximal binding sites are enriched for positive regulation of protein metabolism and developmental processes.
- The analysis was robust to TFBS turnover and not an artifact of SNP ascertainment biases.
Takeaway
Scientists looked at parts of our DNA that don't code for proteins to see if they change quickly over time. They found that some of these changes help us adapt and are favored by evolution.
Methodology
The study used SNP data from HapMap and Perlegen to analyze derived allele frequency distributions to infer selection pressures on transcription factor binding sites.
Potential Biases
Potential ascertainment biases in SNP data could affect the results.
Limitations
The study discusses inherent limitations of publicly available human SNP datasets that complicate the inference of selection pressures.
Participant Demographics
The study included SNP data from populations such as Yorubans, European-Americans, Japanese, and Han Chinese.
Statistical Information
P-Value
0.002
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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