Cell-autonomous correction of ring chromosomes in human induced pluripotent stem cells.

ABSTRACT: Ring chromosomes are structural aberrations commonly associated with birth defects, mental disabilities and growth retardation. Rings form after fusion of the long and short arms of a chromosome, and are sometimes associated with large terminal deletions. Owing to the severity of these large aberrations that can affect multiple contiguous genes, no possible therapeutic strategies for ring chromosome disorders have been proposed. During cell division, ring chromosomes can exhibit unstable behaviour leading to continuous production of aneuploid progeny with low viability and high cellular death rate. The overall consequences of this chromosomal instability have been largely unexplored in experimental model systems. Here we generated human induced pluripotent stem cells (iPSCs) from patient f

SUBMITTER: Bershteyn M 

PROVIDER: S-EPMC4030630 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature