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Investigating low frequency somatic mutations in Arabidopsis with Duplex Sequencing.

Gus Waneka¹, Braden Pate¹, J Grey Monroe²

¹Department of Biology, Colorado State University, Fort Collins, Colorado, USA.

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Summary

Environmental changes can influence gene expression and mutation rates. This study in Arabidopsis thaliana found very low somatic mutation frequencies in wild-type plants, suggesting larger datasets are needed to explore mutation rate evolution.

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Area of Science:

Evolutionary biology
Genetics
Molecular biology

Background:

Mutations drive genetic diversity but can cause disease.
Intragenomic mutation rates vary due to epigenomic modifications and repair mechanisms.
Higher gene expression is linked to decreased mutation rates, influenced by environmental cues.

Approach:

Perturbed gene expression in Arabidopsis thaliana using heat treatment.
Quantified gene expression and identified differentially expressed genes.
Used Duplex Sequencing for highly accurate somatic mutation detection in plant tissues.
Investigated the role of mismatch repair (MMR) and base excision repair (BER) in mutation accumulation.

Key Points:

Wild-type (WT) and BER mutant plants showed very low somatic mutation frequencies (mean variant frequency ~1.8-2.6×10^-8).
MMR mutant plants exhibited significantly elevated mutation frequencies (1.13×10^-6).
Somatic variant frequencies in WT plants are extremely low.

Conclusions:

The study provides highly accurate measurements of rare somatic mutations in plants.
Larger datasets are required to determine if environmental changes induce gene-specific mutation rate shifts.
Repair mechanisms, particularly MMR, play a crucial role in controlling mutation accumulation.