Genome Editing of Structural Variations: Modeling and Gene Correction

Chul-Yong Park; Jin Jea Sung; Dong-Wook Kim

doi:10.1016/j.tibtech.2016.02.011

Genome Editing of Structural Variations: Modeling and Gene Correction

Trends Biotechnol. 2016 Jul;34(7):548-561. doi: 10.1016/j.tibtech.2016.02.011. Epub 2016 Mar 23.

Authors

Chul-Yong Park¹, Jin Jea Sung¹, Dong-Wook Kim²

Affiliations

¹ Department of Physiology and Brain Korea 21 Plus Project for Medical Science, Yonsei University College of Medicine, Seoul 03722, Korea.
² Department of Physiology and Brain Korea 21 Plus Project for Medical Science, Yonsei University College of Medicine, Seoul 03722, Korea. Electronic address: [email protected].

PMID: 27016031
DOI: 10.1016/j.tibtech.2016.02.011

Abstract

The analysis of chromosomal structural variations (SVs), such as inversions and translocations, was made possible by the completion of the human genome project and the development of genome-wide sequencing technologies. SVs contribute to genetic diversity and evolution, although some SVs can cause diseases such as hemophilia A in humans. Genome engineering technology using programmable nucleases (e.g., ZFNs, TALENs, and CRISPR/Cas9) has been rapidly developed, enabling precise and efficient genome editing for SV research. Here, we review advances in modeling and gene correction of SVs, focusing on inversion, translocation, and nucleotide repeat expansion.

Keywords: engineered nucleases; gene correction; genome editing; inversion; short nucleotide repeat; translocation.

Publication types

Review
Research Support, Non-U.S. Gov't

MeSH terms

Chromosome Aberrations*
Chromosomes, Human*
Gene Editing / methods*
Genetic Therapy / methods*
Genetic Variation*
Genome, Human*
Humans