DNA Adapter Molecules with Terminal Modifications for NGS Library Preparation

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Solution Overview

Problem

Current methods for preparing DNA libraries for Next Generation Sequencing require additional steps to modify DNA ends before adapter ligation, which can lead to adapter dimer and oligomer formation, and necessitate inactivating enzymes, making the process complex and error-prone.

Innovation Solution

DNA-adapter-molecules with specific terminal modifications that prevent binding with kinases and polymerases, allowing for blunt-end ligation without enzyme inactivation, enabling direct addition to fragmented DNA during library preparation and reducing dimer and oligomer formation.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Productivity

If common adapter sequences are added to the end repair mix, then the adapter ligation can be performed, but the enzymes in the end repair mix modify the adapters causing loss of directionality and formation of adapter dimers and oligomers

Engineering Contradiction:
Improveadapter ligation efficiencyVSAvoidadapter directionality and purity
Core Design Contradiction:
ProductivityVSReliability

Solution Approach 1:

The adapter sequences are designed with asymmetric modifications: the 5' end of the first strand and 5' end of the reverse strand are modified to prevent kinase binding, while the 3' end of the reverse strand retains a free hydroxyl group for ligation. This local differentiation of chemical properties at different ends of the adapter enables selective enzymatic reactions and prevents unwanted modifications, resolving the contradiction between ligation efficiency and adapter purity.

Inventive Principle:
Principle #3Local quality

Solution Approach 2:

The adapter sequences are pre-modified with 5' end modifications before being added to the end repair mix. This preliminary modification prevents kinases and polymerases in the end repair mix from acting on the adapters, thereby preventing the formation of adapter dimers and oligomers while maintaining the free 3' hydroxyl group needed for subsequent ligation to DNA fragments.

Inventive Principle:
Principle #9Preliminary anti-action

2Reliability

If additional enzyme inactivation steps are introduced to prevent adapter modification, then adapter purity is maintained, but the process complexity and error-proneness increase

Engineering Contradiction:
Improveadapter purityVSAvoidlibrary preparation process complexity
Core Design Contradiction:
ReliabilityVSDevice complexity

Solution Approach 1:

The protective 5' end modifications are incorporated into the adapter sequences during their synthesis, before the library preparation process begins. This preliminary action ensures that when adapters are added to the end repair mix, they are already protected against unwanted enzymatic modifications, eliminating the need for additional enzyme inactivation steps and simplifying the overall workflow.

Inventive Principle:
Principle #10Preliminary action

Solution Approach 2:

The adapter sequences are designed to be self-protecting through their modified 5' ends. The modifications inherently prevent kinase and polymerase binding without requiring external protection mechanisms or additional processing steps. The adapters essentially protect themselves from unwanted modifications, reducing process complexity while maintaining purity.

Inventive Principle:
Principle #25Self-service

3Manufacturing precision

If unphosphorylated DNA adapters are used for ligation, then directionality is maintained, but phosphodiester linkages are not formed at the 5' end requiring additional nick translation steps

Engineering Contradiction:
Improveligation directionalityVSAvoidlibrary preparation throughput
Core Design Contradiction:
Manufacturing precisionVSProductivity

Solution Approach 1:

The adapter design implements local quality differentiation: the 5' ends are modified to prevent phosphorylation and maintain directionality, while the 3' end of the reverse strand retains a free hydroxyl group that can participate in ligation. This localized functional differentiation enables the adapter to maintain directionality while still forming stable ligations to the DNA fragments.

Inventive Principle:
Principle #3Local quality

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

Simplifies the library preparation process by allowing adapters to be added early, minimizing enzyme inactivation steps and reducing errors, while maintaining efficient ligation and sequencing performance.

Implementation Method 1

the 5' end of the first strand is modified in a way, that the first nucleotide does not contain a free hydroxyl group and not a free phosphate at the 5' position, so that no binding site for kinases is available

Methodology Applied
Scientific EffectEnzyme binding inhibition: Enzyme

Implementation Method 2

the 3' end of the first strand is modified in a way that the last nucleotide does not contain a free hydroxyl group at the 3' position, so that no ligation can occur

Methodology Applied
Scientific EffectLigation prevention: Enzyme

Implementation Method 3

the 3' end of the reverse strand features a free hydroxyl group (at the 3' position of the last nucleotide)

Methodology Applied
Scientific EffectPhosphodiester bond formation: Enzyme

Implementation Method 4

First strand and reverse strand are annealed to each other by complementary base pairing, without any overhang (blunt ends)

Methodology Applied
Scientific EffectBase pairing: Chemical Bonding

Data Source

PatentEP3052645B1DNA-adapter-molecules for the preparation of DNA-libraries and method for producing them and use
Publication Date: 2019.01.09 QIAGEN GMBH
  • EP3052645B1 patent drawingFigure 1~4
  • EP3052645B1 patent drawingFigure 5(A)~5(B)
  • EP3052645B1 patent drawingFigure 6(A)~6(B)

AI summary

The invention relates to DNA-adapter-molecules for the preparation of DNA-libraries and methods for producing them and their use. The invention is useful for the application in molecular biology, in particular for Next Generation Sequencing and/or Library Multiplexing. The present invention discloses DNA-adapter-molecules, comprising a double-stranded polynucleotide molecule, whereat the 5' end of the first strand is modified in a way, that no binding site for kinases is available, the 3' end of the first strand is modified in a way that no ligation can occur, the 5' end of the reverse strand is modified in a way, that no binding site for a kinase is available, and the 3' end of the reverse strand features a free hydroxyl group (at the 3' position of the last nucleotide).