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Are Lethal Alleles Too Abundant in Humans?
Mallory A Ballinger1, Mohamed A F Noor2
1Department of Integrative Biology and Museum of Vertebrate Zoology, University of California, Berkeley, CA 94720, USA.
Trends in Genetics : TIG
|January 2, 2018
Summary
Many individuals carry recessive lethal alleles, which are disease-causing mutations. A population genomic study found these mutations are common but persist at expected frequencies due to mutation-selection balance.
Area of Science:
- Population genetics
- Evolutionary biology
- Genomics
Background:
- Recessive lethal alleles are common across species.
- Their persistence presents an evolutionary puzzle.
- Disease-causing mutations require explanation for their prevalence.
Purpose of the Study:
- To investigate the abundance of lethal disease-causing mutations in humans.
- To understand the evolutionary dynamics of recessive lethal alleles.
Main Methods:
- Population genomic analysis.
- Study of mutation frequencies in human populations.
Main Results:
- Lethal mutations appear more common than initially expected.
- Most mutations persist at frequencies consistent with mutation-selection balance models.
Conclusions:
- The persistence of recessive lethal alleles can be explained by mutation-selection balance.
- Population genomics provides insights into the evolutionary maintenance of deleterious mutations.
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