IP Library Granted Patent US 11,725,228
Granted Patent B2
US 11,725,228 · App. 16/754,648 · Granted Aug 15, 2023

Methods for detecting site-specific and spurious genomic deamination induced by base editing technologies

Inventors: J. Keith Joung (Winchester, MA); James Angstman (Charlestown, MA); Jason Michael Gehrke (Cambridge, MA)
Assignee: The General Hospital Corporation
C12Q1/44C12Q1/6855C12Q1/6869C12Q2521/301C12Q2523/301C12Q2525/191C12Q2531/113
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Quick Facts
Patent No.
US 11,725,228
App. No.
16/754,648
Granted
Aug 15, 2023
Kind
B2
Abstract

Methodologies to detect off-target mutations induced by the deaminase activity of Base Editing technology.

Claims (18)

1. A method of detecting deaminated sites in substrate DNA, the method comprising:

providing a sample comprising substrate DNA;

deaminating the substrate DNA using a base editing fusion protein comprising a deaminase domain and a DNA binding domain;

contacting the deaminated substrate with Endonuclease MS from Thermococcus kodakarensis (TkoEndoMS) to induce double strand breaks (DSBs) at deamination sites in the substrate DNA to produce DNA fragments with single-stranded, five-base pair overhanging ends;

treating the DNA fragments with uracil DNA glycosylase and endonuclease VIII;

end-repairing and/or A-tailing the ends of the DNA fragments;

ligating an adapter oligonucleotide to the ends; and

sequencing the DNA fragments.

2. The method of claim 1 , wherein the substrate DNA is genomic DNA (gDNA).

3. The method of claim 1 , wherein the adapter oligonucleotide comprises a single deoxyuridine.

4. The method of claim 1 , wherein sequencing the DNA fragments comprises determining a sequence of at least 10 nucleotides at the ends of the DNA fragments.

5. The method of claim 1 , wherein the base editing fusion protein is selected from the group consisting of a zinc-finger domain; a transcription-activator-like effector domain; or a catalytically-inactive Cas9 or Cpf1, with a selected guide RNA.

6. The method of claim 1 , wherein the adapter oligonucleotide comprises sequences for use in high throughput sequencing.

7. The method of claim 1 , wherein the substrate DNA is synthesized DNA.

8. The method of claim 1 , wherein the base editing fusion protein is selected from the group consisting of a zinc-finger domain; a transcription-activator-like effector domain; or a catalytically-inactive Cas9 or Cpf1, with a selected guide RNA, and wherein the substrate DNA is genomic DNA.

9. The method of claim 8 , wherein the base editing fusion protein is a catalytically-inactive Cas9 or Cpf1, with a selected guide RNA.

10. The method of claim 1 , wherein the base editing fusion protein is selected from the group consisting of a zinc-finger domain; a transcription-activator-like effector domain; or a catalytically-inactive Cas9 or Cpf1, with a selected guide RNA, and wherein the substrate DNA is synthesized DNA.

11. The method of claim 10 , wherein the base editing fusion protein is a catalytically-inactive Cas9 or Cpf1, with a selected guide RNA.

Assignments (2)
CONFIRMATORY LICENSE Recorded Oct 12, 2022
From: MASSACHUSETTS GENERAL HOSPITAL
To: NATIONAL INSTITUTES OF HEALTH (NIH), U.S. DEPT. OF HEALTH AND HUMAN SERVICES (DHHS), U.S. GOVERNMENT
Reel/Frame 061387/0964 →
ASSIGNMENT OF ASSIGNOR'S INTEREST Recorded Mar 25, 2021
From: JOUNG, J. KEITH; ANGSTMAN, JAMES; GEHRKE, JASON MICHAEL
To: THE GENERAL HOSPITAL CORPORATION
Reel/Frame 055718/0757 →
Continuity (2)
Provisional Application 62571222 · Oct 11, 2017
Related Publication 20200239930A1 · Jul 30, 2020