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

Sci Rep. 2015 Dec 14:5:18240. doi: 10.1038/srep18240.

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.

Publication types

  • Research Support, Non-U.S. Gov't

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*

Substances

  • MicroRNAs
  • T-Box Domain Proteins
  • T-box transcription factor 5

Supplementary concepts

  • Holt-Oram syndrome