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Deleterious mutations in animal mitochondrial DNA

¹Department of Ecology and Evolutionary Biology, Biosciences, University of Arizona, Tucson 85721, USA. nachman@ccit.arizona.edu

|August 28, 1998

Summary

A neutral model predicts similar ratios of genetic differences and polymorphisms. However, animal mitochondrial DNA shows more replacement polymorphisms than fixed differences, suggesting mildly harmful mutations are common but rarely fixed.

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Area of Science:

Evolutionary biology
Population genetics
Molecular evolution

Background:

Neutral theory predicts similar ratios of non-synonymous/synonymous differences and polymorphisms.
Mitochondrial DNA datasets from 25 animal species were analyzed.

Purpose of the Study:

To test the prediction of the neutral model using empirical data.
To investigate the role of slightly deleterious mutations in molecular evolution.

Main Methods:

Comparative analysis of non-synonymous (replacement) and synonymous (silent) genetic variation.
Examination of both fixed differences between species and polymorphisms within species.
Statistical comparison of the ratios of replacement to silent mutations.

Main Results:

In over half of the studied species, the ratio of replacement to silent polymorphisms was significantly higher than the ratio of replacement to silent fixed differences.
This pattern deviates from the simple neutral model prediction.

Conclusions:

The findings suggest that a significant number of mildly deleterious amino acid mutations contribute to genetic diversity within species.
These mutations are less likely to become fixed in the population, leading to the observed discrepancy between polymorphism and divergence patterns.
This highlights the importance of slightly deleterious mutations in shaping molecular evolution.

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