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Efficient Derivation of Human Cardiac Precursors and Cardiomyocytes from Pluripotent Human Embryonic Stem Cells with Small Molecule Induction
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CHD-associated enhancers shape human cardiomyocyte lineage commitment.

Daniel A Armendariz1, Sean C Goetsch2, Anjana Sundarrajan1

  • 1Cecil H. and Ida Green Center for Reproductive Biology Sciences, University of Texas Southwestern Medical Center, Dallas, United States.

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|April 25, 2023
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Summary
This summary is machine-generated.

Genetic variants in enhancers can cause developmental diseases. This study used CRISPRi screening to identify key enhancers regulating human heart cell development and found that disrupting specific enhancers impairs cardiomyocyte differentiation, potentially contributing to congenital heart defects.

Keywords:
cardiomyocytecongenital heart diseaseenhancersgene regulationgenetic variationgeneticsgenomicshumanregenerative medicinesingle cellstem cells

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Area of Science:

  • Developmental Biology
  • Genetics
  • Cardiovascular Research

Background:

  • Enhancers control gene expression crucial for multicellular development and cell fate.
  • Genetic variants within enhancers are implicated in developmental diseases, but their direct impact on lineage commitment is understudied.
  • Congenital heart defects (CHDs) are linked to genetic variations, with enhancers being potential contributors.

Purpose of the Study:

  • To investigate the endogenous roles of specific enhancers and their target genes in human cardiomyocyte differentiation.
  • To determine if genetic variants in enhancers contribute to congenital heart defects by altering cardiac cell fate.
  • To functionally test enhancers implicated in genetic studies of CHDs.

Main Methods:

  • Conducted a single-cell CRISPR interference (CRISPRi) screen to assess the function of 25 enhancers and cardiac target genes.
  • Performed a focused CRISPRi validation screen to analyze the impact of repressing TBX5 enhancers.
  • Generated endogenous genetic deletions of two TBX5 enhancers to validate CRISPRi findings.

Main Results:

  • Identified 16 enhancers whose repression resulted in impaired differentiation of human cardiomyocytes (CMs).
  • Demonstrated that repression of TBX5 enhancers delays the transcriptional transition from mid- to late-stage CM development.
  • Observed that endogenous genetic deletions of TBX5 enhancers recapitulated the effects of epigenetic perturbations.

Conclusions:

  • This study identifies critical enhancers essential for human cardiac development.
  • The findings suggest that dysregulation of these identified enhancers may play a role in the pathogenesis of congenital heart defects.
  • Provides endogenous functional evidence linking enhancer activity to cardiomyocyte lineage commitment and development.