PUBLICATION
Heart Morphogenesis Requires Smyd1b for Proper Incorporation of the Second Heart Field in Zebrafish
- Authors
- Prill, K., Windsor Reid, P., Pilgrim, D.
- ID
- ZDB-PUB-250126-2
- Date
- 2025
- Source
- Genes 16: (Journal)
- Registered Authors
- Pilgrim, David
- Keywords
- Smyd1, cardiac sarcomere, extracellular matrix, heart development, second heart field, smyd1b, still heart mutant, zebrafish
- MeSH Terms
-
- Heart*/embryology
- Heart*/growth & development
- Zebrafish*/genetics
- Gene Expression Regulation, Developmental*
- Transcription Factors/genetics
- Transcription Factors/metabolism
- Zebrafish Proteins*/genetics
- Zebrafish Proteins*/metabolism
- Heart Defects, Congenital/genetics
- Heart Defects, Congenital/metabolism
- Heart Defects, Congenital/pathology
- Animals
- Organogenesis/genetics
- Mutation
- Morphogenesis*/genetics
- Histone-Lysine N-Methyltransferase/genetics
- Histone-Lysine N-Methyltransferase/metabolism
- PubMed
- 39858599 Full text @ Genes (Basel)
Citation
Prill, K., Windsor Reid, P., Pilgrim, D. (2025) Heart Morphogenesis Requires Smyd1b for Proper Incorporation of the Second Heart Field in Zebrafish. Genes. 16:.
Abstract
Background/Objectives: Abnormal development of the second heart field significantly contributes to congenital heart defects, often caused by disruptions in tightly regulated molecular pathways. Smyd1, a gene encoding a protein with SET and MYND domains, is essential for heart and skeletal muscle development. Mutations in SMYD1 result in severe cardiac malformations and misregulation of Hand2 expression in mammals. This study examines the role of Smyd1b in zebrafish cardiac morphogenesis to elucidate its function and the mechanisms underlying congenital heart defects. Methods: Smyd1b (still heart) mutant embryos were analyzed for cardiac defects, and changes in gene expression related to heart development using live imaging, in situ hybridization, quantitative PCR and immunofluorescent comparisons and analysis. Results: Smyd1b mutants displayed severe cardiac defects, including failure to loop, severe edema, and an expansion of cardiac jelly linked to increased has2 expression. Additionally, the expression of key cardiac transcription factors, such as gata4, gata5, and nkx2.5, was notably reduced, indicating disrupted transcriptional regulation. The migration of cardiac progenitors was impaired and the absence of Islet-1-positive cells in the mutant hearts suggests a failed contribution of SHF progenitor cells. Conclusions: These findings underscore the essential role of Smyd1b in regulating cardiac morphogenesis and the development of the second heart field. This study highlights the potential of Smyd1b as a key factor in understanding the genetic and molecular mechanisms underlying congenital heart defects and cardiac development.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping