TY  - JOUR
AU  - Lansing, Felix
AU  - Mukhametzyanova, Liliya
AU  - Rojo-Romanos, Teresa
AU  - Iwasawa, Kentaro
AU  - Kimura, Masaki
AU  - Paszkowski-Rogacz, Maciej
AU  - Karpinski, Janet
AU  - Grass, Tobias
AU  - Sonntag, Jan
AU  - Schneider, Paul Martin
AU  - Günes, Ceren
AU  - Hoersten, Jenna
AU  - Schmitt, Lukas Theo
AU  - Rodriguez-Muela, Natalia
AU  - Knöfler, Ralf
AU  - Takebe, Takanori
AU  - Buchholz, Frank
TI  - Correction of a Factor VIII genomic inversion with designer-recombinases.
JO  - Nature Communications
VL  - 13
IS  - 1
SN  - 2041-1723
CY  - [London]
PB  - Nature Publishing Group UK
M1  - DZNE-2022-00242
SP  - 422
PY  - 2022
AB  - Despite advances in nuclease-based genome editing technologies, correcting human disease-causing genomic inversions remains a challenge. Here, we describe the potential use of a recombinase-based system to correct the 140 kb inversion of the F8 gene frequently found in patients diagnosed with severe Hemophilia A. Employing substrate-linked directed molecular evolution, we develop a coupled heterodimeric recombinase system (RecF8) achieving 30
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Cell Differentiation
KW  - Chromosome Inversion: genetics
KW  - Clone Cells
KW  - Directed Molecular Evolution
KW  - Endothelial Cells: cytology
KW  - Endothelial Cells: metabolism
KW  - Exons: genetics
KW  - Factor VIII: genetics
KW  - HEK293 Cells
KW  - HeLa Cells
KW  - Humans
KW  - Induced Pluripotent Stem Cells: metabolism
KW  - Inverted Repeat Sequences: genetics
KW  - Recombinases: metabolism
KW  - Recombination, Genetic: genetics
KW  - Substrate Specificity
KW  - Whole Genome Sequencing
KW  - Recombinases (NLM Chemicals)
KW  - Factor VIII (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:35058465
C2  - pmc:PMC8776779
DO  - DOI:10.1038/s41467-022-28080-7
UR  - https://pub.dzne.de/record/163482
ER  -