Expression of the CTCFL Gene during Mouse Embryogenesis Causes Growth Retardation, Postnatal Lethality, and

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Leyla Sati1, Caroline Zeiss2, Krishna Yekkala2

  • 1Department of Histology and Embryology, Akdeniz University School of Medicine, Antalya, Turkey.

Molecular and Cellular Biology
|July 15, 2015
PubMed

Insights

CTCFL (brother of regulator of imprinted sites) expression during embryogenesis causes severe developmental defects and neonatal death in mice. This suggests CTCFL plays a critical role in embryonic development and may impact vascular malformations.

Area of Science:

  • Developmental Biology
  • Genetics
  • Cancer Biology

Background:

  • CTCFL, also known as BORIS (brother of regulator of imprinted sites), is a paralog of CTCF.
  • CTCFL is a testis-expressed gene and a cancer testis antigen (CTA), found in tumor cells and certain vascular malformations.
  • The precise function of CTCFL, particularly in non-testicular cells, remains largely unknown.

Purpose of the Study:

  • To investigate the functional consequences of CTCFL expression during embryogenesis.
  • To identify downstream targets and affected pathways regulated by CTCFL.
  • To elucidate the role of CTCFL in developmental pathologies and its potential link to vascular malformations.

Main Methods:

  • Generation of tetracycline-inducible Ctcfl transgenic mice.
  • Analysis of embryonic phenotypes, including growth, organ development, and survival.
  • Utilizing embryonic stem (ES) cells and tetraploid chimeras to study Ctcfl function.
  • Transcriptome sequencing (RNA-Seq) to identify Ctcfl-deregulated genes.
  • Bioinformatic analysis to determine affected signaling pathways.

Main Results:

  • Ctcfl expression during embryogenesis led to growth retardation, eye malformations, multiorgan pathologies, vascular defects, and neonatal death.
  • The observed phenotype closely mimicked mouse models affecting the transforming growth factor β (TGFB) pathway.
  • Ctcfl expression in ES cells reproduced these developmental defects in tetraploid chimeras.
  • Transcriptome analysis identified 14 genes deregulated by Ctcfl, with the TGFB pathway being significantly affected.

Conclusions:

  • Embryonic Ctcfl expression induces severe developmental abnormalities, highlighting its crucial role in embryogenesis.
  • The TGFB pathway is a key target affected by Ctcfl, suggesting a mechanism for its teratogenic effects.
  • Further research into Ctcfl's function in non-testicular cells and its downstream targets is needed to understand its role as a CTA and in vascular malformations.

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