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Kim M.-K.,Severance Biomedical Research Institute | Jeon B.-N.,Severance Biomedical Research Institute | Koh D.-I.,Severance Biomedical Research Institute | Kim K.-S.,Severance Biomedical Research Institute | And 3 more authors.
Journal of Biological Chemistry | Year: 2013

Background: The POK proteins play roles in the regulation of the cell cycle, oncogenesis, and tumor suppression. A novel POK protein, BOZF1, is overexpressed in cancer. Results: BOZF1 represses transcription of CDKN1A by inhibition of p53 acetylation and Sp1 binding. Conclusion: BOZF1 stimulates cell proliferation by repressing p21 expression. Significance: BOZF1 is a negative regulator of tumor suppressors p53 and p21. © 2013 by The American Society for Biochemistry and Molecular Biology, Inc.

PubMed | Yonsei University, Brain Korea 21 Plus Project for Medical Science and., Severance Biomedical Research Institute, Korea University and Seoul National University
Type: Journal Article | Journal: Proceedings of the National Academy of Sciences of the United States of America | Year: 2014

Hemophilia A, one of the most common genetic bleeding disorders, is caused by various mutations in the blood coagulation factor VIII (F8) gene. Among the genotypes that result in hemophilia A, two different types of chromosomal inversions that involve a portion of the F8 gene are most frequent, accounting for almost half of all severe hemophilia A cases. In this study, we used a transcription activator-like effector nuclease (TALEN) pair to invert a 140-kbp chromosomal segment that spans the portion of the F8 gene in human induced pluripotent stem cells (iPSCs) to create a hemophilia A model cell line. In addition, we reverted the inverted segment back to its normal orientation in the hemophilia model iPSCs using the same TALEN pair. Importantly, we detected the F8 mRNA in cells derived from the reverted iPSCs lines, but not in those derived from the clones with the inverted segment. Thus, we showed that TALENs can be used both for creating disease models associated with chromosomal rearrangements in iPSCs and for correcting genetic defects caused by chromosomal inversions. This strategy provides an iPSC-based novel therapeutic option for the treatment of hemophilia A and other genetic diseases caused by chromosomal inversions.

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