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  4. Allele-specific gene editing prevents deafness in a model of dominant progressive hearing loss
 
research article

Allele-specific gene editing prevents deafness in a model of dominant progressive hearing loss

Gyorgy, Bence
•
Nist-Lund, Carl
•
Pan, Bifeng
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July 1, 2019
Nature Medicine

Since most dominant human mutations are single nucleotide substitutions(1,2), we explored gene editing strategies to disrupt dominant mutations efficiently and selectively without affecting wild-type alleles. However, single nucleotide discrimination can be difficult to achieve(3) because commonly used endonucleases, such as Streptococcus pyogenes Cas9 (SpCas9), can tolerate up to seven mismatches between guide RNA (gRNA) and target DNA. Furthermore, the protospacer-adjacent motif (PAM) in some Cas9 enzymes can tolerate mismatches with the target DNA(3,4). To circumvent these limitations, we screened 14 Cas9/gRNA combinations for specific and efficient disruption of a nucleotide substitution that causes the dominant progressive hearing loss, DFNA36. As a model for DFNA36, we used Beethoven mice(5), which harbor a point mutation in Tmc1, a gene required for hearing that encodes a pore-forming subunit of mechanosensory transduction channels in inner-ear hair cells(6). We identified a PAM variant of Staphylococcus aureus Cas9 (SaCas9-KKH) that selectively and efficiently disrupted the mutant allele, but not the wild-type Tmc1/ TMC1 allele, in Beethoven mice and in a DFNA36 human cell line. Adeno-associated virus (AAV)-mediated SaCas9-KKH delivery prevented deafness in Beethoven mice up to one year post injection. Analysis of current ClinVar entries revealed that similar to 21% of dominant human mutations could be targeted using a similar approach.

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Type
research article
DOI
10.1038/s41591-019-0500-9
Web of Science ID

WOS:000474430400027

Author(s)
Gyorgy, Bence
Nist-Lund, Carl
Pan, Bifeng
Asai, Yukako
Karavitaki, K. Domenica
Kleinstiver, Benjamin P.
Garcia, Sara P.
Zaborowski, Mikolaj P.
Solanes, Paola  
Spataro, Sofia  
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Date Issued

2019-07-01

Publisher

NATURE PUBLISHING GROUP

Published in
Nature Medicine
Volume

25

Issue

7

Start page

1123

End page

1130

Subjects

Biochemistry & Molecular Biology

•

Cell Biology

•

Medicine, Research & Experimental

•

Research & Experimental Medicine

•

ear hair-cells

•

crispr-cas9 nucleases

•

inner

•

mechanotransduction

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transduction

•

channel

•

tmc1

Editorial or Peer reviewed

REVIEWED

Written at

EPFL

EPFL units
LEN  
PTBTG  
Available on Infoscience
July 17, 2019
Use this identifier to reference this record
https://infoscience.epfl.ch/handle/20.500.14299/159192
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