PUBLICATION

MicroRNA 19a replacement partially rescues fin and cardiac defects in zebrafish model of Holt Oram syndrome

Authors
Chiavacci, E., D'Aurizio, R., Guzzolino, E., Russo, F., Baumgart, M., Groth, M., Mariani, L., D'Onofrio, M., Arisi, I., Pellegrini, M., Cellerino, A., Cremisi, F., Pitto, L.
ID
ZDB-PUB-151216-24
Date
2015
Source
Scientific Reports   5: 18240 (Journal)
Registered Authors
Cellerino, Alessandro, Chiavacci, Elena
Keywords
Disease model, RNAi
Datasets
GEO:GSE69691, GEO:GSE69578, GEO:GSE69690
MeSH Terms
  • Abnormalities, Multiple/genetics*
  • Abnormalities, Multiple/pathology*
  • Abnormalities, Multiple/therapy
  • Animal Fins/embryology
  • Animal Fins/pathology
  • Animals
  • Embryonic Development/genetics
  • Gene Expression Regulation, Developmental
  • Genetic Therapy*/methods
  • Genome-Wide Association Study
  • Genomics
  • Heart Defects, Congenital/genetics*
  • Heart Defects, Congenital/pathology*
  • Heart Defects, Congenital/therapy
  • Heart Septal Defects, Atrial/genetics*
  • Heart Septal Defects, Atrial/pathology*
  • Heart Septal Defects, Atrial/therapy
  • Lower Extremity Deformities, Congenital/genetics*
  • Lower Extremity Deformities, Congenital/pathology*
  • Lower Extremity Deformities, Congenital/therapy
  • MicroRNAs/genetics*
  • Multigene Family
  • Phenotype*
  • RNA Interference*
  • T-Box Domain Proteins/genetics
  • Upper Extremity Deformities, Congenital/genetics*
  • Upper Extremity Deformities, Congenital/pathology*
  • Upper Extremity Deformities, Congenital/therapy
  • Zebrafish/embryology
  • Zebrafish/genetics*
PubMed
26657204 Full text @ Sci. Rep.
Abstract
Holt-Oram Syndrome (HOS) is an autosomal dominant heart-hand syndrome caused by mutations in the TBX5 gene, a transcription factor capable of regulating hundreds of cardiac-specific genes through complex transcriptional networks. Here we show that, in zebrafish, modulation of a single miRNA is sufficient to rescue the morphogenetic defects generated by HOS. The analysis of miRNA-seq profiling revealed a decreased expression of miR-19a in Tbx5-depleted zebrafish embryos compared to the wild type. We revealed that the transcription of the miR-17-92 cluster, which harbors miR-19a, is induced by Tbx5 and that a defined dosage of miR-19a is essential for the correct development of the heart. Importantly, we highlighted that miR-19a replacement is able to rescue cardiac and pectoral fin defects and to increase the viability of HOS zebrafish embryos. We further observed that miR-19a replacement shifts the global gene expression profile of HOS-like zebrafish embryos towards the wild type condition, confirming the ability of miR-19a to rescue the Tbx5 phenotype. In conclusion our data demonstrate the importance of Tbx5/miR-19a regulatory circuit in heart development and provide a proof of principle that morphogenetic defects associated with HOS can be rescued by transient miRNA modulation.
Genes / Markers
Figures
Show all Figures
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
Mapping