Stochastic gene expression and environmental stressors trigger variable somite segmentation phenotypes

Kemal Keseroglu, Oriana Q. H. Zinani, Sevdenur Keskin, Hannah Seawall, Eslim E. Alpay and Ertuğrul M. Özbudak ()
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Kemal Keseroglu: Cincinnati Children’s Hospital Medical Center
Oriana Q. H. Zinani: Cincinnati Children’s Hospital Medical Center
Sevdenur Keskin: University of Arkansas for Medical Science and Arkansas Children’s Hospital
Hannah Seawall: Cincinnati Children’s Hospital Medical Center
Eslim E. Alpay: Cincinnati Children’s Hospital Medical Center
Ertuğrul M. Özbudak: Cincinnati Children’s Hospital Medical Center

Nature Communications, 2023, vol. 14, issue 1, 1-9

Abstract: Abstract Mutations of several genes cause incomplete penetrance and variable expressivity of phenotypes, which are usually attributed to modifier genes or gene-environment interactions. Here, we show stochastic gene expression underlies the variability of somite segmentation defects in embryos mutant for segmentation clock genes her1 or her7. Phenotypic strength is further augmented by low temperature and hypoxia. By performing live imaging of the segmentation clock reporters, we further show that groups of cells with higher oscillation amplitudes successfully form somites while those with lower amplitudes fail to do so. In unfavorable environments, the number of cycles with high amplitude oscillations and the number of successful segmentations proportionally decrease. These results suggest that individual oscillation cycles stochastically fail to pass a threshold amplitude, resulting in segmentation defects in mutants. Our quantitative methodology is adaptable to investigate variable phenotypes of mutant genes in different tissues.

Date: 2023
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DOI: 10.1038/s41467-023-42220-7

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