Mammalian Genome

, Volume 29, Issue 3–4, pp 205–228 | Cite as

CRISPR-based strategies for studying regulatory elements and chromatin structure in mammalian gene control

  • Cia-Hin Lau
  • Yousin Suh


The development of high-throughput methods has enabled the genome-wide identification of putative regulatory elements in a wide variety of mammalian cells at an unprecedented resolution. Extensive genomic studies have revealed the important role of regulatory elements and genetic variation therein in disease formation and risk. In most cases, there is only correlative evidence for the roles of these elements and non-coding changes within these elements in pathogenesis. With the advent of genome- and epigenome-editing tools based on the CRISPR technology, it is now possible to test the functional relevance of the regulatory elements and alterations on a genomic scale. Here, we review the various CRISPR-based strategies that have been developed to functionally validate the candidate regulatory elements in mammals as well as the non-coding genetic variants found to be associated with human disease. We also discuss how these synthetic biology tools have helped to elucidate the role of three-dimensional nuclear architecture and higher-order chromatin organization in shaping functional genome and controlling gene expression.



This work was funded by NIH Grants: AG017242, GM104459, and CA180126 (Suh).

Compliance with ethical standards

Conflict of interest

The authors declare no conflict of interest.


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© Springer Science+Business Media, LLC, part of Springer Nature 2017

Authors and Affiliations

  1. 1.Department of Mechanical and Biomedical EngineeringCity University of Hong KongHong KongChina
  2. 2.Department of GeneticsAlbert Einstein College of MedicineBronxUSA
  3. 3.Department of Ophthalmology and Visual SciencesAlbert Einstein College of MedicineBronxUSA
  4. 4.Department of MedicineAlbert Einstein College of MedicineBronxUSA
  5. 5.Institute for Aging ResearchAlbert Einstein College of MedicineBronxUSA

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