PUBLICATION

Stochastic gene expression and environmental stressors trigger variable somite segmentation phenotypes

Authors
Keseroglu, K., Zinani, O.Q.H., Keskin, S., Seawall, H., Alpay, E.E., Özbudak, E.M.
ID
ZDB-PUB-231023-50
Date
2023
Source
Nature communications   14: 64976497 (Journal)
Registered Authors
Keseroglu, Kemal
Keywords
none
MeSH Terms
  • Animals
  • Basic Helix-Loop-Helix Transcription Factors*/metabolism
  • Body Patterning/genetics
  • Gene Expression
  • Gene Expression Regulation, Developmental
  • Phenotype
  • Somites/metabolism
  • Zebrafish*/genetics
  • Zebrafish Proteins/genetics
PubMed
37838784 Full text @ Nat. Commun.
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.
Genes / Markers
Figures
Show all Figures
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
Mapping