Single-Cell Epigenetic Mark Visualization via ISH and Proximity Ligation

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Solution Overview

Problem

Current techniques lack the ability to visualize epigenetic marks, such as DNA methylation, at a single genomic locus in individual cells, which is crucial for diagnosing diseases like cancer.

Innovation Solution

A method combining in situ hybridization with a proximity ligation assay (PLA) to detect modified nucleotides in specific nucleic acid sequences within cells, using labeled nucleic acid probes and binding agents to visualize epigenetic marks like DNA methylation.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Measurement precision

If conventional techniques are used to study epigenetic marks, then molecular-level or genomic-scale analysis is achieved, but single-cell single-locus visualization capability is lost

Engineering Contradiction:
Improvesingle-cell single-locus visualization capabilityVSAvoidmethod complexity
Core Design Contradiction:
Measurement precisionVSDevice complexity

Solution Approach 1:

The method divides the detection process into distinct sequential steps: in situ hybridization with labeled probes to target specific genomic loci, followed by proximity ligation assay steps that separately bind to the probe label and modified nucleotide. This segmentation allows each step to be optimized independently while achieving single-cell resolution visualization

Inventive Principle:
Principle #1Segmentation

Solution Approach 2:

The methodology nests multiple detection layers within a single cell: first nesting the labeled nucleic acid probe within the cell during hybridization, then nesting the first binding agent (anti-label antibody) around the probe, and finally nesting the second binding agent (anti-modified nucleotide antibody) at the target site. This nested arrangement enables simultaneous detection of multiple markers in the same cell without cross-interference

Inventive Principle:
Principle #7Nested doll (Nesting)

2Adaptability or versatility

If multiple binding agents are used to detect both probe label and modified nucleotide, then detection capability is improved, but procedure complexity increases

Engineering Contradiction:
Improvedetection capabilityVSAvoidprocedure complexity
Core Design Contradiction:
Adaptability or versatilityVSEase of operation

Solution Approach 1:

The proximal binding of the first binding agent (anti-label antibody) to the probe label serves as an intermediary step that bridges the probe and the target site. This intermediary positioning allows the second binding agent (anti-modified nucleotide antibody) to access and bind to the modified nucleotide while maintaining spatial proximity, enabling the proximity ligation assay to function effectively

Inventive Principle:
Principle #24Intermediary (Mediator)

Solution Approach 2:

The method employs different labels (such as biotin, digoxigenin, or fluorescent dyes) on the nucleic acid probes that can be detected by specific binding agents. These labels act as visual markers that change or become detectable through their interaction with binding agents, allowing the modified nucleotides to be visualized through the resulting signal (fluorescence, color change, or other detectable properties)

Inventive Principle:
Principle #32Color changes

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

Enables the visualization of epigenetic marks at a single genomic locus in individual cells, facilitating the detection of cancer cells and providing diagnostic tools for cancer biopsy samples.

Implementation Method 1

the nucleic acid probe hybridizes with the specific nucleic acid sequence to form a hybridized cell

Methodology Applied
Scientific EffectHybridization: Chemical Bonding

Implementation Method 2

contacting the hybridized cell with a first binding agent that binds to the label of the nucleic acid probe and a second binding agent that binds to the modified nucleotide

Methodology Applied
Scientific EffectAntigen-antibody binding: Chemical Bonding

Data Source

PatentEP3722421B1Visualizing modified nucleotides and nucleic acid interactions in single cells
Publication Date: 2023.10.11 EMD MILLIPORE CORP
  • EP3722421B1 patent drawingFigure 1
  • EP3722421B1 patent drawingFigure 2
  • EP3722421B1 patent drawingFigure 3A~3C

AI summary

Methods for visualizing modified nucleotides in a specific nucleic acid sequence or specific nucleic acid sequence interactions in single cells, wherein the methods comprise coupling an in situ hybridization (ISH) reaction with a proximity ligation assay (PLA) reaction.