PUBLICATION

PDGFRA is a conserved HAND2 effector during early cardiac development

Authors
Xu, Y., Gehlot, R., Capon, S.J., Albu, M., Gretz, J., Bloomekatz, J., Mattonet, K., Vucicevic, D., Talyan, S., Kikhi, K., Günther, S., Looso, M., Firulli, B.A., Sanda, M., Firulli, A.B., Lacadie, S.A., Yelon, D., Stainier, D.Y.R.
ID
ZDB-PUB-241211-5
Date
2024
Source
Nature cardiovascular research   3(12): 1531-1548 (Journal)
Registered Authors
Albu, Marga, Bloomekatz, Joshua, Capon, Sam, Stainier, Didier, Yelon, Deborah
Keywords
none
Datasets
GEO:GSE241049, GEO:GSE241971
MeSH Terms
  • Zebrafish Proteins*/genetics
  • Zebrafish Proteins*/metabolism
  • Myocytes, Cardiac*/metabolism
  • Heart/embryology
  • Animals, Genetically Modified
  • Cell Movement/genetics
  • Zebrafish*/embryology
  • Zebrafish*/genetics
  • Signal Transduction/genetics
  • Mice
  • Mouse Embryonic Stem Cells/cytology
  • Mouse Embryonic Stem Cells/metabolism
  • Binding Sites
  • Animals
  • Organogenesis/genetics
  • Basic Helix-Loop-Helix Transcription Factors*/genetics
  • Basic Helix-Loop-Helix Transcription Factors*/metabolism
  • Mutation
  • Gene Expression Regulation, Developmental*
  • Phenotype
  • Receptor, Platelet-Derived Growth Factor alpha*/genetics
  • Receptor, Platelet-Derived Growth Factor alpha*/metabolism
PubMed
39658721 Full text @ Nat Cardiovasc Res
Abstract
The basic helix-loop-helix transcription factor HAND2 has multiple roles during vertebrate organogenesis, including cardiogenesis. However, much remains to be uncovered about its mechanism of action. Here, we show the generation of several hand2 mutant alleles in zebrafish and demonstrate that dimerization-deficient mutants display the null phenotype but DNA-binding-deficient mutants do not. Rescue experiments with Hand2 variants using a newly identified hand2 enhancer confirmed these observations. To identify Hand2 effectors critical for cardiogenesis, we analyzed the transcriptomes of hand2 loss- and gain-of-function embryonic cardiomyocytes and tested the function of eight candidate genes in vivo; pdgfra was most effective in rescuing myocardial migration in hand2 mutants. Accordingly, we identified a putative Hand2-binding region in the zebrafish pdgfra locus that is important for its expression. In addition, Hand2 loss- and gain-of-function experiments in mouse embryonic stem cell-derived cardiac cells decreased and increased Pdgfra expression, respectively. Altogether, these results further our mechanistic understanding of HAND2 function during early cardiogenesis.
Genes / Markers
Figures
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Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
Mapping