Assessing the Evolutionary Impact of Amino Acid Mutations in the Human Genome
Author Information
Author(s): Boyko Adam R., Williamson Scott H., Indap Amit R., Degenhardt Jeremiah D., Hernandez Ryan D., Lohmueller Kirk E., Adams Mark D., Schmidt Steffen, Sninsky John J., Sunyaev Shamil R., White Thomas J., Nielsen Rasmus, Clark Andrew G., Bustamante Carlos D.
Primary Institution: Cornell University
Hypothesis
Quantifying the distribution of fitness effects among newly arising mutations in the human genome is key to resolving important debates in medical and evolutionary genetics.
Conclusion
The study finds that a significant proportion of amino acid mutations are neutral or nearly neutral, with many being moderately or highly deleterious.
Supporting Evidence
- 27–29% of amino acid changing mutations are neutral or nearly neutral.
- 30–42% are moderately deleterious.
- Nearly all the remainder are highly deleterious or lethal.
- 10–20% of amino acid differences between humans and chimpanzees have been fixed by positive selection.
Takeaway
Scientists studied how mutations in our genes affect us and found that many changes don't really hurt us, while some can be very harmful.
Methodology
The study used Single Nucleotide Polymorphism (SNP) data from 35 individuals to infer the distribution of fitness effects of mutations.
Potential Biases
Potential biases due to the demographic history of the populations studied.
Limitations
The study's estimates may be affected by demographic history and ascertainment biases in SNP discovery.
Participant Demographics
20 European Americans and 15 African Americans.
Statistical Information
P-Value
p<0.05
Confidence Interval
95% C.I. = [−0.059, −0.018]
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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