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Site-specific selection reveals selective constraints and functionality of tumor somatic mtDNA mutations
Deyang Li1, Xiaohong Du1, Xu Guo1
1State Key Laboratory of Cancer Biology and Experimental Teaching Center of Basic Medicine, Fourth Military Medical University, 169 Changle West Road, Xi'an, 710032, China.
Journal of Experimental & Clinical Cancer Research : CR
|November 29, 2017
Summary
Site-specific selection influences tumor mitochondrial DNA (mtDNA) mutations, contrary to previous assumptions. These findings highlight the critical role of specific mtDNA mutations in cancer development.
Area of Science:
- Genomics
- Evolutionary Biology
- Cancer Research
Background:
- Tumor mitochondrial DNA (mtDNA) mutations are crucial in tumorigenesis.
- Previous studies suggested relaxed negative selection shapes tumor mtDNA mutations, conflicting with their known importance.
Purpose of the Study:
- To investigate the hypothesis that site-specific selection influences tumor mtDNA mutations.
- To analyze selection patterns across the tumor mtDNA genome.
Main Methods:
- Compiled the largest dataset of tumor mtDNA mutations to date.
- Evaluated natural selection patterns acting on tumor mtDNA mutations.
Main Results:
- Both positive and negative selection were observed at specific mtDNA sites and functional units.
- Lower mutation rates were found in complex V (ATP8) and tRNA coding regions.
- Selected mutations were enriched for predicted deleterious changes, indicating evolutionary constraints.
Conclusions:
- Evidence supports site-specific selection acting on tumor mtDNA.
- Specific mtDNA mutations play a significant role in tumor development.
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