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Related Concept Videos

Notch Signaling Pathway03:14

Notch Signaling Pathway

4.2K
The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
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Role Of Notch Signalling In Intestinal Stem Cell Renewal01:12

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Notch signaling was first discovered in Drosophila melanogaster, where it is involved in cell lineage differentiation. Notch signaling regulates the maintenance and differentiation of intestinal stem cells or ISCs by controlling the expression of atonal homolog 1 or Atoh1. Atoh1 directs cells to differentiate into secretory cells.
Direct cell-to-cell contact is needed for the activation of Notch signaling. The signal is initiated when a notch ligand binds to a receptor on an adjacent cell, also...
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Related Experiment Video

Updated: Jun 19, 2025

Light-sheet Fluorescence Microscopy to Capture 4-Dimensional Images of the Effects of Modulating Shear Stress on the Developing Zebrafish Heart
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Intricate MIB1-NOTCH-GATA6 Interactions in Cardiac Valvular and Septal Development.

Rebeca Piñeiro-Sabarís1,2, Donal MacGrogan1,2, José Luis de la Pompa1,2

  • 1Intercellular Signaling in Cardiovascular Development & Disease Laboratory, Centro Nacional de Investigaciones Cardiovasculares (CNIC), Melchor Fernández Almagro 3, 28029 Madrid, Spain.

Journal of Cardiovascular Development and Disease
|July 26, 2024
PubMed
Summary
This summary is machine-generated.

This study reveals that MIB1 (Malignant Brain Tumor 1) can suppress GATA6 gene mutations, impacting congenital heart disease (CHD) development. Understanding these gene interactions is key for novel therapeutic strategies in heart defects.

Keywords:
BAVCHDGATA6MIB1NOTCH1VSDgenetic interactions

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Area of Science:

  • Cardiovascular Biology
  • Developmental Biology
  • Genetics

Background:

  • Genome-wide association studies and mouse models implicate MIB1 and GATA6 in congenital heart disease (CHD).
  • MIB1 and GATA6 genes are physically close and share conserved synteny, suggesting related roles in cardiac development.
  • Previous studies linked MIB1 and NOTCH1 in a common pathway for bicuspid aortic valve (BAV) and ventricular septal defect (VSD).

Purpose of the Study:

  • To investigate the interaction between MIB1 and GATA6 in the development of heart valves and septa.
  • To determine if MIB1 modulates GATA6-associated cardiac defects.
  • To elucidate the functional relationship between MIB1, NOTCH1, and GATA6 in cardiac development.

Main Methods:

  • Generation of compound heterozygote mice with Mib1 and Gata6 mutations.
  • Phenotypic analysis of cardiac defects including BAV and VSD.
  • Transcriptomic and functional analyses to assess pathway involvement, particularly epithelial-to-mesenchymal transition (EMT).

Main Results:

  • Combining Mib1 mutations with Gata6 heterozygous null mutation showed no effect on Gata6 single mutant phenotypes for some Mib1 variants.
  • A specific Mib1 mutation suppressed the incidence of BAV and VSD by 50% in Gata6 heterozygotes, indicating a suppressive role.
  • Transcriptomic data showed Mib1 variants enriched the EMT pathway, which was depleted in Gata6 mutants, supporting the phenotypic suppression.
  • Combined Notch1 and Gata6 insufficiency caused VSD but not BAV, highlighting complex gene interactions.

Conclusions:

  • MIB1 and GATA6 interact in valvular and septal development, with MIB1 exhibiting a suppressive effect on GATA6-related cardiac defects.
  • The interaction involves modulation of the epithelial-to-mesenchymal transition (EMT) pathway.
  • The distinct roles of MIB1, NOTCH1, and GATA6 underscore the complexity of genetic regulation in congenital heart disease.