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SMC3 contributes to heart development by regulating super-enhancer associated genes.

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  • 1Key Laboratory of Metabolism and Molecular Medicine, Ministry of Education, Department of Biochemistry and Molecular Biology, School of Basic Medical Sciences; ENT Institute, Department of Facial Plastic and Reconstructive Surgery, Eye & ENT Hospital; Institute of Medical Genetics & Genomics; Key Laboratory of Birth Defects, Children's Hospital; Medical Science Data Center at Intelligent Medicine Institute, Fudan University, Shanghai, 200032, China.

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Mutations in SMC3, a cohesin component, cause congenital heart defects (CHD) by disrupting gene regulation in heart development. This study reveals SMC3

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Area of Science:

  • Genetics
  • Developmental Biology
  • Cardiology

Background:

  • Cornelia de Lange syndrome (CdLS) is linked to cohesin complex mutations and cardiac abnormalities.
  • The exact function of cohesin in heart development is not fully understood.
  • SMC3 is a key component of the cohesin complex implicated in CdLS and congenital heart disease (CHD).

Purpose of the Study:

  • To investigate the critical role of SMC3 in cardiac development and its molecular mechanisms.
  • To explore the link between SMC3 mutations and congenital heart disease (CHD).

Main Methods:

  • Analysis of CdLS patients with SMC3 mutations and individuals with isolated CHD.
  • Generation and study of heart-specific Smc3-knockout (SMC3-cKO) mice.
  • Single-nucleus RNA sequencing and chromosome conformation capture (Hi-C) techniques.

Main Results:

  • SMC3 mutations are associated with high rates of CHD in CdLS patients.
  • SMC3-cKO mice display outflow tract (OFT) abnormalities.
  • Smc3 deletion impairs OFT development by reducing super-enhancer (SE)-promoter interactions, downregulating key genes like Ets2.
  • Rare pathogenic SMC3 variants were identified in individuals with isolated CHD.

Conclusions:

  • SMC3 plays an essential role in heart development, particularly in OFT formation.
  • SMC3 regulates cardiac gene expression through super-enhancer interactions.
  • SMC3 is a potential CHD-related gene, offering insights into cardiac development and disease.