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
(all 9)
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
Marker Marker Type Name
her1GENEhairy-related 1
her7GENEhairy and enhancer of split related-7
xirp2aGENExin actin binding repeat containing 2a
1 - 3 of 3
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Figures
Figure Gallery (6 images)
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Expression
Phenotype
No data available
Mutations / Transgenics
Allele Construct Type Affected Genomic Region
bk15TgTransgenic Insertion
    ci301
      		Small Deletion
      ci302
        		Small Deletion
        ci303TgTransgenic Insertion
          hu2124
            		Point Mutation
            hu2526
              		Point Mutation
              1 - 6 of 6
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              Human Disease / Model
              No data available
              Sequence Targeting Reagents
              No data available
              Fish
              Antibodies
              Orthology
              Engineered Foreign Genes
              Marker Marker Type Name
              VenusEFGVenus
              1 - 1 of 1
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              Mapping
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              Citation
              Keseroglu, K., Zinani, O.Q.H., Keskin, S., Seawall, H., Alpay, E.E., Özbudak, E.M. (2023) Stochastic gene expression and environmental stressors trigger variable somite segmentation phenotypes. Nature communications. 14:64976497.