Super-Enhancer Constructs for High Gene Expression

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Solution Overview

Problem

Current technologies lack effective methods to modulate the expression of cell type-specific genes required for maintaining cell identity or disease states, such as cancer, due to incomplete understanding of regulatory elements and their mechanisms.

Innovation Solution

The use of super-enhancers, defined as genomic regions occupied by higher concentrations of transcriptional coactivators and chromatin regulators, to drive high expression of specific genes, including those associated with embryonic stem cells or disease states, through nucleic acid constructs and agents that interact with endogenous cellular components.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Productivity

If conventional enhancers are used to regulate gene expression, then gene expression can be activated, but the expression level is insufficient to maintain cell identity or disease states

Engineering Contradiction:
Improvegene expression levelVSAvoidmaintenance of cell identity
Core Design Contradiction:
ProductivityVSReliability

Solution Approach 1:

The patent combines multiple enhancer elements into a single super-enhancer construct that integrates several individual enhancers (e.g., CACNA1S enhancer, SCN9A enhancer, ATP2A1 enhancer) to work synergistically. This merging of multiple enhancer functions into one composite element achieves higher gene expression levels and more reliable maintenance of cell identity compared to conventional single enhancers.

Inventive Principle:
Principle #5Merging (Combining)

2Productivity

If transcriptional coactivators and chromatin regulators are increased at enhancer regions, then gene expression is enhanced, but the complexity of regulatory mechanisms increases

Engineering Contradiction:
Improvegene expressionVSAvoidregulatory mechanism complexity
Core Design Contradiction:
ProductivityVSDevice complexity

Solution Approach 1:

The super-enhancer construct is segmented into distinct functional modules, each corresponding to a specific enhancer element with defined boundaries and specific gene targets. This segmentation allows for systematic organization of multiple enhancers (e.g., separate CACNA1S, SCN9A, ATP2A1 enhancer regions) while maintaining their individual functions, thereby reducing the overall complexity of understanding and manipulating the regulatory mechanism.

Inventive Principle:
Principle #1Segmentation

Data Source

PatentEP2912178B1Super-enhancers and methods of use thereof
Publication Date: 2020.06.17 WHITEHEAD INST FOR BIOMEDICAL RES
  • EP2912178B1 patent drawingFigure 1A~1D
  • EP2912178B1 patent drawingFigure 2A~2D
  • EP2912178B1 patent drawingFigure 3A~3C

AI summary

The present invention relates in some aspects to super-enhancers and related compositions, methods, and agents that are useful for modulating expression of cell type-specific genes that are required for maintenance of cell identity (e.g., embryonic stem cell identity) or maintenance of a disease state (e.g., cancer).