Double-Strand Break Site Sequencing for Off-Target Detection

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Solution Overview

Problem

Existing methods for identifying and characterizing recognition sites for double-strand-break-inducing agents lack sensitivity and specificity, particularly in detecting both target and off-target double-strand breaks, and there is a need for improved techniques to optimize the activity of these agents.

Innovation Solution

A method involving phosphatase treatment, contact with double-strand-break-inducing agents, adapter ligation, and sequencing is used to create libraries of polynucleotides, allowing for the identification and characterization of double-strand-break sites, including blunt-end and sticky-end cuts, and assessing qualitative and quantitative characteristics of these sites.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Measurement precision

If conventional methods are used to identify double-strand-break sites, then the process is simpler, but the sensitivity and specificity of detection are insufficient

Engineering Contradiction:
Improvedetection sensitivity and specificityVSAvoidmethod complexity
Core Design Contradiction:
Measurement precisionVSDevice complexity

Solution Approach 1:

The method segments the detection process into distinct stages: phosphatase treatment to prevent re-ligation, adapter ligation to mark break sites, and sequencing to identify locations. This segmentation enables precise detection of double-strand breaks while maintaining manageable procedural complexity through systematic organization of steps.

Inventive Principle:
Principle #1Segmentation

Solution Approach 2:

Phosphatase treatment is performed as a preliminary action before adapter ligation to remove 5' phosphate groups from DNA ends. This preliminary modification prevents non-specific ligation and ensures that only adapter molecules with complementary sequences can bind to the phosphatase-treated ends, thereby enhancing detection specificity.

Inventive Principle:
Principle #10Preliminary action

2Measurement precision

If phosphatase treatment and adapter ligation are performed, then detection sensitivity improves, but the number of processing steps increases

Engineering Contradiction:
Improvedetection sensitivityVSAvoidprocessing efficiency
Core Design Contradiction:
Measurement precisionVSProductivity

Solution Approach 1:

The method merges multiple functions into the adapter molecule: it serves as a binding partner for phosphatase-treated ends, provides a sequencing handle, and enables amplification. This consolidation reduces the need for separate treatment steps while maintaining high detection sensitivity.

Inventive Principle:
Principle #5Merging (Combining)

Solution Approach 2:

The adapter molecules are designed to self-assemble with the phosphatase-treated DNA fragments through complementary base pairing. This self-service mechanism eliminates the need for complex alignment procedures and reduces manual intervention, thereby improving processing efficiency despite the additional chemical treatment steps.

Inventive Principle:
Principle #25Self-service

3Loss of information

If the method characterizes both target and off-target sites, then comprehensive analysis is achieved, but the time and resources required increase

Engineering Contradiction:
Improvecompleteness of site characterizationVSAvoidanalysis time
Core Design Contradiction:
Loss of informationVSLoss of time

Solution Approach 1:

The method replaces traditional mechanical approaches to site identification (such as gel electrophoresis and manual sequencing) with next-generation sequencing technology. This substitution enables parallel processing of thousands of DNA fragments simultaneously, providing comprehensive characterization of both target and off-target sites while significantly reducing analysis time and resource requirements.

Inventive Principle:
Principle #28Mechanics substitution (Replace mechanical system)

Applied Scientific Principles

This section explains which scientific principles are used to turn an abstract innovation direction into a practical engineering solution.

Function Achieved in This Case

Enhances the sensitivity and specificity of detecting double-strand breaks, enabling optimization of double-strand-break-inducing agents' activity and efficiency, particularly in target and off-target recognition sites.

Implementation Method 1

adding phosphatase to the isolated, purified polynucleotide

Methodology Applied
Scientific EffectPhosphatase treatment: Enzyme

Implementation Method 2

ligating an adapter to the polynucleotides of the library

Methodology Applied
Scientific EffectLigation: Enzyme

Data Source

PatentEP3790993B1Methods for the identification and characterization of double-strand break sites and uses thereof
Publication Date: 2025.12.03 PIONEER HI BREED INTERNATIONAL INC
  • EP3790993B1 patent drawingFigure 1
  • EP3790993B1 patent drawingFigure 2
  • EP3790993B1 patent drawingFigure 3

AI summary

Methods and compositions are provided for the identification, detection, characterization, and/or utilization of double strand breaks in a target polynucleotide; the identification, detection, characterization, and/or utilization of cutting sites for double-strand-break-inducing agents; and the identification, detection, characterization, and/or utilization of double-strand-break-inducing agents.