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Series GSE75065 Query DataSets for GSE75065
Status Public on May 01, 2016
Title Segmental chromosomal imbalances arise at high frequency in human fibroblasts (BAC array)
Organism Homo sapiens
Experiment type Genome variation profiling by array
Summary Preservation of chromosome integrity is key for the survival of any organism. To assure segregation of intact chromosomes, cell division is presumed to be under strict control of cell-cycle checkpoints. Estimates of chromosomal mutation rates per generation based on cytogenetic analyses of newborns and products of conception, range between 4.57x10-5 and 3.42x10-4. In contrast, the high incidence of segmental imbalances detected by single-cell genome-wide copy number profiling indicates that the error rate per cell division might be more than an order of magnitude higher. To directly measure the de novo incidence of segmental chromosomal imbalances, we plated a single fibroblast and analyzed the genomes of the two sister cells following a single cell division. Analysis of 89 pairs of sister cells (178 single cells in total) from 5 different cell lines revealed megabase-sized chromosomal imbalances in 21 fibroblasts, 14 of which derived from 7 mitoses with complementary segmental aneuploidies in the two daughter cells. The mutation rate of segmental imbalances is thus at least 7.9%, indicating that compared to the per generation chromosome stability is at least 100 times lower in vitro and likely underestimated in vivo.
 
Overall design The genome of 78 single fibroblasts deriving from 3 different cell lines was amplified using the Sureplex amplification system. These test samples were hybridized comparatively to commercial male or female reference DNA on 24Sure+ BAC arrays.
 
Contributor(s) Dimitriadou E, ZamaniEsteki M, Voet T, Vermeesch JR
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Submission date Nov 16, 2015
Last update date May 02, 2016
Contact name Eftychia Dimitriadou
E-mail(s) eftychia.dimitriadou@med.kuleuven.be
Organization name KU Leuven
Lab Cytogenetics and Genome Research
Street address Herestraat 49, ON1, bus 602
City Leuven
ZIP/Postal code 3000
Country Belgium
 
Platforms (1)
GPL21146 24Sure Homo sapiens 10K BAC array
Samples (78)
GSM1941754 Fibroblast cell line F1, cell 2, sister cell 1
GSM1941755 Fibroblast cell line F1, cell 2, sister cell 2
GSM1941756 Fibroblast cell line F1, cell 3, sister cell 1
This SubSeries is part of SuperSeries:
GSE75116 Segmental chromosomal imbalances arise at high frequency in human fibroblasts
Relations
BioProject PRJNA302474

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE75065_RAW.tar 57.3 Mb (http)(custom) TAR (of GPR)
Processed data included within Sample table
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