Journal
CHROMOSOMA
Volume 126, Issue 4, Pages 457-463Publisher
SPRINGER
DOI: 10.1007/s00412-016-0621-6
Keywords
Ring chromosomes; Large-scale aberration; Induced pluripotent stem cells (iPSCs); Compensatory uniparental disomy (UPD); Genome editing; Chromosome therapy
Funding
- Ring 14 International
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Approximately 1 in 500 newborns are born with chromosomal abnormalities that include trisomies, translocations, large deletions, and duplications. There is currently no therapeutic approach for correcting such chromosomal aberrations in vivo or in vitro. When we attempted to produce induced pluripotent stem cell (iPSC) models from patient-derived fibroblasts that contained ring chromosomes, we found that the ring chromosomes were eliminated and replaced by duplicated normal copies of chromosomes through a mechanism of uniparental isodisomy (Bershteyn et al. 2014, Nature 507: 99). The discovery of this previously unforeseen system for aberrant chromosome correction during reprogramming enables us for the first time to model and understand this process of cell-autonomous correction of ring chromosomes during human patient somatic cell reprograming to iPSCs. This knowledge could lead to a potential therapeutic strategy to correct common large-scale chromosomal aberrations, termed chromosome therapy.
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