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Int. J. Mol. Sci. 2015, 16(9), 21128-21137; doi:10.3390/ijms160921128

Single-Base Pair Genome Editing in Human Cells by Using Site-Specific Endonucleases

Research Center for the Mathematics on Chromatin Live Dynamics (RcMcD), Hiroshima University, Higashi-Hiroshima 739-8530, Japan
Academic Editor: Izuho Hatada
Received: 10 August 2015 / Revised: 27 August 2015 / Accepted: 28 August 2015 / Published: 3 September 2015
(This article belongs to the Special Issue Genome Editing)
View Full-Text   |   Download PDF [888 KB, uploaded 3 September 2015]   |  

Abstract

Genome-wide association studies have identified numerous single-nucleotide polymorphisms (SNPs) associated with human diseases or phenotypes. However, causal relationships between most SNPs and the associated disease have not been established, owing to technical challenges such as unavailability of suitable cell lines. Recently, efficient editing of a single base pair in the genome was achieved using programmable site-specific nucleases. This technique enables experimental confirmation of the causality between SNPs and disease, and is potentially valuable in clinical applications. In this review, I introduce the molecular basis and describe examples of single-base pair editing in human cells. I also discuss the challenges associated with the technique, as well as possible solutions. View Full-Text
Keywords: single-nucleotide polymorphisms; single-base pair editing; genome editing; programmable nucleases; zinc-finger nuclease; TALEN; CRISPR; gene therapy single-nucleotide polymorphisms; single-base pair editing; genome editing; programmable nucleases; zinc-finger nuclease; TALEN; CRISPR; gene therapy
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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Ochiai, H. Single-Base Pair Genome Editing in Human Cells by Using Site-Specific Endonucleases. Int. J. Mol. Sci. 2015, 16, 21128-21137.

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