Phosphorothioate Linkers for Absolute RNA Quantification

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Solution Overview

Problem

Current RNA sequencing methods are limited in their ability to achieve absolute quantification of RNA molecules within a single sample, as they allow only relative quantification and are biased by linker ligation efficiency and encounters with modified nucleotides, leading to loss of information and sequence-dependent biases.

Innovation Solution

A novel method involving dephosphorylation, ligation with ddNTP-ended oligodeoxynucleotide linkers, reverse transcription, and subsequent ligation with hairpin/splint oligodeoxynucleotide linkers, followed by amplification and sequencing, which enables direct correlation between sequencing read counts and RNA molecule copies, minimizing biases and loss of RNA molecules.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Measurement precision

If conventional RNA sequencing methods are used, then relative quantification of RNA molecules can be achieved, but absolute quantification is not possible due to linker ligation bias and modified nucleotide interference

Engineering Contradiction:
Improvequantification accuracyVSAvoidquantification reliability
Core Design Contradiction:
Measurement precisionVSReliability

Solution Approach 1:

The patent changes the chemical parameter of the nucleotide by using phosphorothioate-modified nucleotides instead of conventional nucleotides. This chemical modification makes the nucleotide resistant to degradation by nucleases and reduces bias during linker ligation, enabling both accurate and reliable absolute quantification of RNA molecules

Inventive Principle:
Principle #35Parameter changes

Solution Approach 2:

The patent introduces phosphorothioate-modified linkers as intermediary molecules that mediate between the RNA molecule and the sequencing platform. These modified linkers serve as protective intermediaries that prevent degradation and reduce sequence-dependent biases during the sequencing process

Inventive Principle:
Principle #24Intermediary (Mediator)

2Ease of manufacture

If standard oligonucleotide linkers are used for RNA sequencing, then ligation can proceed, but modified nucleotides cause loss of information and sequence-dependent biases

Engineering Contradiction:
Improvelibrary preparation simplicityVSAvoidRNA molecule information
Core Design Contradiction:
Ease of manufactureVSLoss of information

Solution Approach 1:

The patent modifies the chemical parameter of the linker oligonucleotide by incorporating phosphorothioate modifications. This changes the chemical stability and reactivity of the linker, making it resistant to degradation and reducing sequence-dependent biases during ligation, thereby preventing information loss

Inventive Principle:
Principle #35Parameter changes

Solution Approach 2:

The patent uses phosphorothioate-modified linkers as disposable intermediary molecules that are designed to be stable and resistant to degradation. These modified linkers can be used efficiently without being lost or degraded during the sequencing process

Inventive Principle:
Principle #27Cheap short-living objects (Disposable)

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

This method allows for absolute quantification of RNA molecules, providing a linear correlation between read counts and RNA copies, overcoming previous limitations and enabling accurate analysis of RNA landscapes and behaviors.

Implementation Method 1

dephosphorylating RNA in a sample, optionally using alkaline phosphatase

Methodology Applied
Scientific EffectPhosphatase catalysis: Enzyme

Implementation Method 2

ligating, to the dephosphorylated RNA, a ddNTP-ended oligodeoxynucleotide linker

Methodology Applied
Scientific EffectLigase catalysis: Enzyme

Implementation Method 3

reverse transcribing the linker-ligated RNA into cDNA using a primer complementary to Linker 1 and reverse transcriptase

Methodology Applied
Scientific EffectReverse transcription: Enzyme

Implementation Method 4

employing phosphorothioates

Methodology Applied
Scientific EffectPhosphorothioate chemical modification: Chemical Bonding

Data Source

PatentEP3765478B1Methods of quantifying RNA and DNA variants through sequencing employing phosphorothioates
Publication Date: 2024.07.24 MASSACHUSETTS INST OF TECH
  • EP3765478B1 patent drawingFigure 1
  • EP3765478B1 patent drawingFigure 2
  • EP3765478B1 patent drawingFigure 2

AI summary

This disclosure provides methods and compositions for analyzing nucleic acids such as DNA and RNA, and including determination of absolute numbers of such nucleic acids and/or detection and localization of lesions or other modifications on such nucleic acids.