PUBLICATION

Loss of the epithelial transcription factor grhl3 leads to variably penetrant developmental phenotypes in zebrafish

Authors
Mathiyalagan, N., Johnson, T.K., Di Pastena, Z., Fuller, J.N., Miles, L.B., Dworkin, S.
ID
ZDB-PUB-250221-4
Date
2025
Source
Developmental Dynamics : an official publication of the American Association of Anatomists : (Journal)
Registered Authors
Dworkin, Seb, Miles, Lee
Keywords
Grainyhead‐like 3, gene–environment interaction, intestine, phenotypic penetrance, zebrafish
MeSH Terms
  • Transcription Factors*/genetics
  • Transcription Factors*/metabolism
  • Embryonic Development/genetics
  • Animals
  • Gene Expression Regulation, Developmental
  • Phenotype
  • Zebrafish*/embryology
  • Zebrafish*/genetics
  • DNA-Binding Proteins*/genetics
  • DNA-Binding Proteins*/metabolism
  • Zebrafish Proteins*/genetics
  • Zebrafish Proteins*/metabolism
  • Penetrance
PubMed
39976312 Full text @ Dev. Dyn.
Abstract
Environmental influence is critical for embryogenesis but is significantly under-appreciated under lab conditions, which are not typically designed to robustly test environmental variability. Here, we report environmental effects on the developmental phenotype of zebrafish lacking the transcription factor Grainyhead-like 3 (grhl3), a highly conserved gene that is pivotal in epithelial barrier formation, neurulation, craniofacial development, and convergence-extension.
We had previously reported that deletion of grhl3 led to embryonic lethality by 11 h post-fertilization (hpf); however, housing these grhl3-lines in a different aquatic facility led to substantial differences in phenotypic presentation in grhl3-nullizygous (grhl3-/-) embryos. We found that grhl3-/- embryos presented with three distinct phenotypes, characterized by significant reductions in body length, aberrant orofacial cavity formation and craniofacial morphogenesis and impaired intestinal barrier maintenance.
Our study describes a new model of partial phenotypic penetrance in genetically identical embryos. This may serve as a valuable model system in which to understand gene-environment interactions in developmental and epithelial homeostasis.
Genes / Markers
Figures
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Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
Mapping