RNA Editing of Israeli Founder Nonsense Mutations causing IRDs using Site-Directed Adenosine Deaminase Acting on RNA

Nina Schneider; Ricky Steinberg; Johanna  Valensi; Amit  Eylon; Eyal Banin; Erez Y. Levanon; Shay Ben-Aroya; Dror Sharon

RNA Editing of Israeli Founder Nonsense Mutations causing IRDs using Site-Directed Adenosine Deaminase Acting on RNA

Nina Schneider, Ricky Steinberg, Johanna Valensi, Amit Eylon, Eyal Banin, Erez Y. Levanon, Shay Ben-Aroya, Dror Sharon

The Mina and Everard Goodman Faculty of Life Sciences

Research output: Contribution to journal › Meeting Abstract › peer-review

Abstract

Purpose: Targeted RNA editing utilizing the ubiquitous human adenosine deaminase acting on RNA (ADAR) enzyme is a possible new genetic therapeutic approach for the treatment of inherited retinal diseases (IRDs). Utilizing guideRNA (gRNA) to recruit the endogenously expressed ADAR enzyme to a mutated RNA and facilitating the deaminization of a specific adenosine to inosine (read as a guanine by the ribosome), allows for the correction of mRNA transcripts in a transient and tunable manner. According to our recent analyses, 40% of single nucleotide variants (SNVs)-causing IRDs are candidates for ADAR-directed editing. Our aim is to design and test gRNAs that induce targeted ADAR editing for 3 common Israeli mutations causing IRDs: TRPM1-p. K294*, FAM161A-p. R523*, and KIZ-p. R76*.

Original language	English
Pages (from-to)	58 – A0031
Journal	Investigative Ophthalmology and Visual Science
Volume	63
Issue number	7
State	Published - 1 Jun 2022

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Cite this

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title = "RNA Editing of Israeli Founder Nonsense Mutations causing IRDs using Site-Directed Adenosine Deaminase Acting on RNA",

abstract = "Purpose: Targeted RNA editing utilizing the ubiquitous human adenosine deaminase acting on RNA (ADAR) enzyme is a possible new genetic therapeutic approach for the treatment of inherited retinal diseases (IRDs). Utilizing guideRNA (gRNA) to recruit the endogenously expressed ADAR enzyme to a mutated RNA and facilitating the deaminization of a specific adenosine to inosine (read as a guanine by the ribosome), allows for the correction of mRNA transcripts in a transient and tunable manner. According to our recent analyses, 40% of single nucleotide variants (SNVs)-causing IRDs are candidates for ADAR-directed editing. Our aim is to design and test gRNAs that induce targeted ADAR editing for 3 common Israeli mutations causing IRDs: TRPM1-p. K294*, FAM161A-p. R523*, and KIZ-p. R76*.",

author = "Nina Schneider and Ricky Steinberg and Johanna Valensi and Amit Eylon and Eyal Banin and Levanon, {Erez Y.} and Shay Ben-Aroya and Dror Sharon",

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AU - Schneider, Nina

AU - Steinberg, Ricky

AU - Valensi, Johanna

AU - Eylon, Amit

AU - Banin, Eyal

AU - Levanon, Erez Y.

AU - Ben-Aroya, Shay

AU - Sharon, Dror

PY - 2022/6/1

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N2 - Purpose: Targeted RNA editing utilizing the ubiquitous human adenosine deaminase acting on RNA (ADAR) enzyme is a possible new genetic therapeutic approach for the treatment of inherited retinal diseases (IRDs). Utilizing guideRNA (gRNA) to recruit the endogenously expressed ADAR enzyme to a mutated RNA and facilitating the deaminization of a specific adenosine to inosine (read as a guanine by the ribosome), allows for the correction of mRNA transcripts in a transient and tunable manner. According to our recent analyses, 40% of single nucleotide variants (SNVs)-causing IRDs are candidates for ADAR-directed editing. Our aim is to design and test gRNAs that induce targeted ADAR editing for 3 common Israeli mutations causing IRDs: TRPM1-p. K294*, FAM161A-p. R523*, and KIZ-p. R76*.

AB - Purpose: Targeted RNA editing utilizing the ubiquitous human adenosine deaminase acting on RNA (ADAR) enzyme is a possible new genetic therapeutic approach for the treatment of inherited retinal diseases (IRDs). Utilizing guideRNA (gRNA) to recruit the endogenously expressed ADAR enzyme to a mutated RNA and facilitating the deaminization of a specific adenosine to inosine (read as a guanine by the ribosome), allows for the correction of mRNA transcripts in a transient and tunable manner. According to our recent analyses, 40% of single nucleotide variants (SNVs)-causing IRDs are candidates for ADAR-directed editing. Our aim is to design and test gRNAs that induce targeted ADAR editing for 3 common Israeli mutations causing IRDs: TRPM1-p. K294*, FAM161A-p. R523*, and KIZ-p. R76*.

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JF - Investigative Ophthalmology and Visual Science

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RNA Editing of Israeli Founder Nonsense Mutations causing IRDs using Site-Directed Adenosine Deaminase Acting on RNA

Abstract

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