Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells.

ABSTRACT:

Background

Germline chromothripsis causes complex genomic rearrangements that are likely to affect multiple genes and their regulatory contexts. The contribution of individual rearrangements and affected genes to the phenotypes of patients with complex germline genomic rearrangements is generally unknown.

Methods

To dissect the impact of germline chromothripsis in a relevant developmental context, we performed trio-based RNA expression analysis on blood cells, induced pluripotent stem cells (iPSCs), and iPSC-derived neuronal cells from a patient with de novo germline chromothripsis and both healthy parents. In addition, Hi-C and 4C-seq experiments were performed to determine the effects of the genomic rearrangements on transcription regulation of genes in the proximity of th

SUBMITTER: Middelkamp S 

PROVIDER: S-EPMC5270341 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature