Role of Duplicate Genes in Protecting Against Harmful Human Mutations
Author Information
Author(s): Hsiao Tzu-Lin, Vitkup Dennis
Primary Institution: Columbia University
Hypothesis
Do gene duplicates provide functional compensation against deleterious human mutations?
Conclusion
Gene duplicates significantly reduce the likelihood of harboring disease mutations and can mitigate the phenotypic consequences of such mutations.
Supporting Evidence
- Genes with 90% sequence identity homologs are about 3 times less likely to harbor known disease mutations compared to genes with remote homologs.
- Close duplicates significantly reduce the likelihood of a decrease in life expectancy due to deleterious mutations.
- Similarity of expression profiles across tissues increases the likelihood of functional compensation by homologs.
Takeaway
Having backup copies of genes helps protect us from harmful mutations, making it less likely that we will get sick from certain genetic diseases.
Methodology
The study analyzed human disease genes and their homologs to assess the impact of gene duplicates on mutation effects.
Potential Biases
Potential biases in the identification of disease genes may affect the results.
Limitations
The collections of disease genes used are incomplete and biased towards Mendelian diseases.
Statistical Information
P-Value
1.6*10−7
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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