Journal of visualized experiments : JoVE

Using Genetic Deletion of Gene Control Regions to Study Non-Coding DNA Function in Early Human Development Models

Updated

Abstract

A substantial proportion of transcriptionally active cis-regulatory elements in primate embryos originated from ancient retroviral integrations into the germline.

  • Endogenous retroviruses may retain intrinsic regulatory activity and could influence species-specific aspects of embryonic development.
  • Ethical restrictions on human embryo research have limited direct studies of gene regulation during human embryogenesis.
  • Human naive pluripotent stem cells and three-dimensional blastocyst models offer alternative systems for investigating early developmental processes.
  • CRISPR-Cas9 technology can be used to delete retrovirus-derived cis-regulatory elements in human naive pluripotent stem cells.
  • The method allows for the creation of various deletion clones to study the role of individual retrovirus-derived elements in gene regulation.

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