Genomic Insulator Enhancer Blocking in Lymphocytes

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Solution Overview

Problem

Current gene therapy vectors face challenges with genotoxic side effects due to insertional mutagenesis, particularly in lymphocytes, despite the use of the 400 bp fragment of the chicken β-globin HS4 insulator, which does not effectively block enhancer-mediated oncogenic activity in T cells.

Innovation Solution

Incorporation of genomic insulator elements with specific core sequences, such as CACTGCCCTCCAGTGGCCA, to create a construct that acts as a chromatin insulator, reducing the risk of insertional mutagenesis by disrupting interactions between enhancers and cellular oncogenes, thereby preventing oncogene activation.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Reliability

If the chicken β-globin HS4 insulator (cHS4) is incorporated into gene therapy vectors, then insulator activity is provided in myeloid cells, but enhancer blocking activity is lost in T cells and lymphocytes

Engineering Contradiction:
Improveinsulator activityVSAvoidenhancer blocking activity in lymphocytes
Core Design Contradiction:
ReliabilityVSAdaptability or versatility

Solution Approach 1:

The patent segments the cHS4 insulator into individual CTCF binding sites (6 distinct sites labeled 1-6) and tests them independently and in combinations. This segmentation allows identification of specific binding site configurations that provide enhancer blocking activity in lymphocytes, resolving the contradiction by finding minimal functional units that maintain reliability while adapting to lymphocyte-specific requirements

Inventive Principle:
Principle #1Segmentation

Solution Approach 2:

The patent applies local quality by creating insulator variants with specific CTCF binding sites positioned at particular locations and orientations. By modifying the local configuration of binding sites (e.g., placing site 1 at specific positions, using inverted orientations), the insulator gains enhanced enhancer blocking activity specifically in lymphocytes while maintaining its insulator function, thus resolving the adaptability issue without sacrificing reliability

Inventive Principle:
Principle #3Local quality

2Object-affected harmful factors

If larger insulator elements are used to improve enhancer blocking, then oncogene activation is better prevented, but vector size increases reducing transduction efficiency

Engineering Contradiction:
Improveoncogene activationVSAvoidvector size
Core Design Contradiction:
Object-affected harmful factorsVSWeight of moving object

Solution Approach 1:

The patent extracts the essential functional elements from the full cHS4 insulator by identifying and utilizing specific CTCF binding sites (particularly sites 1, 2, and 5) that provide the core enhancer blocking activity. By taking out only the necessary binding sites rather than using the entire 1.2 kb insulator, the patent prevents oncogene activation while keeping the vector size manageable, thus resolving the contradiction between safety and transduction efficiency

Inventive Principle:
Principle #2Taking out (Extraction)

Solution Approach 2:

The patent applies partial action by using subsets of CTCF binding sites (e.g., individual sites or small combinations like sites 1+2 or 1+5) rather than the complete set of six sites. This partial configuration provides sufficient enhancer blocking activity to prevent oncogene activation while minimizing the added vector size, effectively balancing protection against partial insulator sequences

Inventive Principle:
Principle #16Partial or excessive action

Data Source

PatentUS20230181762A1Genomic insulator element exhibiting enhancer blocking activities in lymphocytes and uses thereof
Publication Date: 2023.06.15 ST JUDE CHILDRENS RES HOSPITAL INC

AI summary

A construct including a genomic insulator element that exhibits strong enhancer blocking activities in T lymphocytes is provided as are host cells, pharmaceutical compositions and methods of using the construct in the treatment of disease, in particular a disease to be treated with a retroviral vector-modified T lymphocyte.