Genetic Evaluation of Copy Number Variations, Loss of Heterozygosity, and Single-Nucleotide Variant Levels in Human Embryonic Stem Cells With or Without Skewed X Chromosome Inactivation

2015 ◽  
Vol 24 (15) ◽  
pp. 1779-1792 ◽  
Author(s):  
Wei-Qiang Liu ◽  
Jie-Liang Li ◽  
Jian Wang ◽  
Wen-Yin He ◽  
Lip Va ◽  
...  
Keyword(s):  
Stem Cells ◽  
Embryonic Stem Cells ◽  
Loss Of Heterozygosity ◽  
X Chromosome ◽  
Human Embryonic Stem Cells ◽  
Copy Number ◽  
Embryonic Stem ◽  
Copy Number Variations ◽  
Single Nucleotide ◽  
Skewed X Chromosome Inactivation

Aberrant Patterns of X Chromosome Inactivation in a New Line of Human Embryonic Stem Cells Established in Physiological Oxygen Concentrations

2014 ◽  
Vol 10 (4) ◽  
pp. 472-479 ◽  
Author(s):  
Juliana Andrea de Oliveira Georges ◽  
Naja Vergani ◽  
Simone Aparecida Siqueira Fonseca ◽  
Ana Maria Fraga ◽  
Joana Carvalho Moreira de Mello ◽  
...  
Keyword(s):  
Stem Cells ◽  
Embryonic Stem Cells ◽  
X Chromosome ◽  
Human Embryonic Stem Cells ◽  
Embryonic Stem ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Oxygen Concentrations

scholarly journals Delayed DNA replication in haploid human embryonic stem cells

2021 ◽  
Author(s):  
Matthew M. Edwards ◽  
Michael V. Zuccaro ◽  
Ido Sagi ◽  
Qiliang Ding ◽  
Dan Vershkov ◽  
...  
Keyword(s):  
Stem Cells ◽  
Dna Replication ◽  
Embryonic Stem Cells ◽  
X Chromosome ◽  
Human Embryonic Stem Cells ◽  
Embryonic Stem ◽  
Replication Timing ◽  
Genetic System ◽  
X Chromosomes ◽  
Genomic Regions

Haploid human embryonic stem cells (ESCs) provide a powerful genetic system but diploidize at high rates. We hypothesized that diploidization results from aberrant DNA replication. To test this, we profiled DNA replication timing in isogenic haploid and diploid ESCs. The greatest difference was the earlier replication of the X Chromosome in haploids, consistent with the lack of X-Chromosome inactivation. We also identified 21 autosomal regions that had delayed replication in haploids, extending beyond the normal S phase and into G2/M. Haploid-delays comprised a unique set of quiescent genomic regions that are also underreplicated in polyploid placental cells. The same delays were observed in female ESCs with two active X Chromosomes, suggesting that increased X-Chromosome dosage may cause delayed autosomal replication. We propose that incomplete replication at the onset of mitosis could prevent cell division and result in re-entry into the cell cycle and whole genome duplication.

scholarly journals Delayed DNA replication in haploid human embryonic stem cells

2021 ◽  
Author(s):  
Matthew Micheal Edwards ◽  
Michael V. Zuccaro ◽  
Ido Sagi ◽  
Qiliang Ding ◽  
Dan Vershkov ◽  
...  
Keyword(s):  
Stem Cells ◽  
Dna Replication ◽  
Embryonic Stem Cells ◽  
X Chromosome ◽  
Human Embryonic Stem Cells ◽  
Embryonic Stem ◽  
Replication Timing ◽  
Genetic System ◽  
X Chromosomes ◽  
Genomic Regions

Haploid human embryonic stem cells (ESCs) provide a powerful genetic system but diploidize at high rates. We hypothesized that diploidization results from aberrant DNA replication. To test this, we profiled DNA replication timing in isogenic haploid and diploid ESCs. The greatest difference was the earlier replication of the X chromosome in haploids, consistent with the lack of X chromosome inactivation. Surprisingly, we also identified 21 autosomal regions that had dramatically delayed replication in haploids, extending beyond the normal S phase and into G2/M. Haploid-delays comprised a unique set of quiescent genomic regions that are also under-replicated in polyploid placental cells. The same delays were observed in female ESCs with two active X chromosomes, suggesting that increased X chromosome dosage may cause delayed autosomal replication. We propose that incomplete replication at the onset of mitosis could prevent cell division and result in re-entry into the cell cycle and whole genome duplication.

scholarly journals Copy Number Variant Analysis of Human Embryonic Stem Cells

Stem Cells ◽  
2008 ◽  
Vol 26 (6) ◽  
pp. 1484-1489 ◽  
Author(s):  
Hao Wu ◽  
Kevin J. Kim ◽  
Kshama Mehta ◽  
Salvatore Paxia ◽  
Andrew Sundstrom ◽  
...  
Keyword(s):  
Stem Cells ◽  
Embryonic Stem Cells ◽  
Human Embryonic Stem Cells ◽  
Copy Number ◽  
Embryonic Stem ◽  
Copy Number Variant ◽  
Variant Analysis
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