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Optimizing approaches for targeted integration of transgenic cassettes by integrase-mediated cassette exchange in mouse and human stem cells

Abstract:
To enable robust expression of transgenes in stem cells, recombinase-mediated cassette exchange at safe harbor loci is frequently adopted. The choice of recombinase enzyme is a critical parameter to ensure maximum efficiency and accuracy of the integration event. We have explored the serine recombinase family of site-specific integrases and have directly compared the efficiency of PhiC31, W-beta, and Bxb1 integrase for targeted transgene integration at the Gt(ROSA)26Sor locus in mouse embryonic stem cells. All 3 integrases were found to be suitable for efficient engineering and long-term expression of each integrase was compatible with pluripotency, as evidenced by germline transmission. Bxb1 integrase was found to be 2-3 times more efficient than PhiC31 and W-beta. The Bxb1 system was adapted for cassette exchange at the AAVS1 locus in human induced pluripotent stem (iPS) cells, and the 2 commonly used ubiquitous promoters, CAG and Ef1α (EIF1A), were tested for their suitability in driving expression of the integrated transgenic cargo. AAVS1-integrated Ef1α promoter led to a very mosaic pattern of expression in targeted hiPS cells, whereas the AAVS1-integrated CAG promoter drove consistent and stable expression. To validate the system for the integration of functional machinery, the Bxb1 integrase system was used to integrate CAG-driven CRISPR-activation and CRISPR-inhibition machinery in human iPS cells and robust sgRNA-induced up- and downregulation of target genes was demonstrated.
Publication status:
Published
Peer review status:
Peer reviewed

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Files:
Publisher copy:
10.1093/stmcls/sxae092

Authors

More by this author
Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Centre for Human Genetics
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Centre for Human Genetics
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Centre for Human Genetics
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Centre for Human Genetics
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Centre for Human Genetics
Role:
Author


More from this funder
Funder identifier:
https://ror.org/029chgv08
Grant:
203141/Z/16/Z
090532/Z/09/Z
More from this funder
Funder identifier:
https://ror.org/00k4n6c32
Grant:
115439


Publisher:
Oxford University Press
Journal:
Stem Cells More from this journal
Volume:
43
Issue:
1
Article number:
sxae092
Place of publication:
England
Publication date:
2025-01-08
Acceptance date:
2024-12-17
DOI:
EISSN:
1549-4918
ISSN:
1066-5099
Pmid:
39777513


Language:
English
Keywords:
Pubs id:
2076878
Local pid:
pubs:2076878
Deposit date:
2025-03-19
ARK identifier:

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