Variable allelic expression of imprinted genes in human pluripotent stem cells during differentiation into specialized cell types in vitro

Park, Sang-Wook; Kim, Jihoon; Park, Jong‐Lyul; Ko, Ji‐Yun; Im, Ilkyun; Do, Hyo-Sang; Kim, Hye Min; Tran, Ngoc Tung; Lee, Sang-Hun; Kim, Yong‐Sung; Cho, Yee Sook; Lee, Dong Ryul; Han, Yong‐Mahn

doi:10.1016/j.bbrc.2014.02.141

Cited by 7 publications

(5 citation statements)

References 34 publications

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“…To investigate the expression level of imprinted genes during lineage-specific differentiation, H9-hESCs were differentiated into dopaminergic neurons (ectoderm), osteoblasts (mesoderm) and hepatocytes (endoderm) as representative cell types of 3 germ layers, respectively. Characterization and functionality of differentiated cell types from hESCs were previously reported ( 12 ). In this study, we analyzed the transcriptional expression of 19 imprinted genes that were commonly expressed in 4 different hPSC lines.…”

Section: Resultsmentioning

confidence: 99%

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Transcriptional Profiles of Imprinted Genes in Human Embryonic Stem Cells During In vitro Differentiation

Park

Kim

et al. 2014

Int J Stem Cells

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Background and Objectives:Genomic imprinting is an inheritance phenomenon by which a subset of genes are expressed from one allele of two homologous chromosomes in a parent of origin-specific manner. Even though fine-tuned regulation of genomic imprinting process is essential for normal development, no other means are available to study genomic imprinting in human during embryonic development. In relation with this bottleneck, differentiation of human embryonic stem cells (hESCs) into specialized lineages may be considered as an alternative to mimic human development.Methods and Results:In this study, hESCs were differentiated into three lineage cell types to analyze temporal and spatial expression of imprinted genes. Of 19 imprinted genes examined, 15 imprinted genes showed similar transcriptional level among two hESC lines and two human induced pluripotent stem cell (hiPSC) lines. Expressional patterns of most imprinted genes were varied in progenitors and fully differentiated cells which were derived from hESCs. Also, no consistence was observed in the expression pattern of imprinted genes within an imprinting domain during in vitro differentiation of hESCs into three lineage cell types.Conclusions:Transcriptional expression of imprinted genes is regulated in a cell type- specific manner in hESCs during in vitro differentiation.

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Section: Resultsmentioning

confidence: 99%

“…We have previously reported that allele-specific expression of imprinted genes is changed in a cell-type specific manner in human pluripotent stem cells (hPSCs) during in vitro differentiation ( 12 ). However, total expression levels of imprinted genes were not still reported in hPSCs during in vitro differentiation.…”

Section: Discussionmentioning

confidence: 99%

Transcriptional Profiles of Imprinted Genes in Human Embryonic Stem Cells During In vitro Differentiation

Park

Kim

et al. 2014

Int J Stem Cells

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“…Among the 13 identified lncRNAs in human EPCs, 10 of them ( DANCR, GAS5, IPW, HOTAIRM1, NR2F1-AS1, NCBP2-AS2, OIP5-AS1, SNHG8, TUG1 and ZFAS1 ) did not show differential levels in the HSCR-EPCs. Despite this fact, most of them have been related to crucial cellular processes for ENS formation (proliferation, survival, migration and differentiation) [ 27 , 31 , 35 , 50 , 53 , 57 , 60 , 64 ]. In addition, TUG1 is a lncRNA that binds to Polycomb Repressive Complex 1 and 2 (PRC 1 and 2) [ 62 , 63 ].…”

Section: Discussionmentioning

confidence: 99%

Identification of New Potential LncRNA Biomarkers in Hirschsprung Disease

Torroglosa

Villalba‐Benito

Fernández

et al. 2020

IJMS

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Hirschsprung disease (HSCR) is a neurocristopathy defined by intestinal aganglionosis due to alterations during the development of the Enteric Nervous System (ENS). A wide spectrum of molecules involved in different signaling pathways and mechanisms have been described in HSCR onset. Among them, epigenetic mechanisms are gaining increasing relevance. In an effort to better understand the epigenetic basis of HSCR, we have performed an analysis for the identification of long non-coding RNAs (lncRNAs) by qRT-PCR in enteric precursor cells (EPCs) from controls and HSCR patients. We aimed to test the presence of a set lncRNAs among 84 lncRNAs in human EPCs, which were previously related with crucial cellular processes for ENS development, as well as to identify the possible differences between HSCR patients and controls. As a result, we have determined a set of lncRNAs with positive expression in human EPCs that were screened for mutations using the exome data from our cohort of HSCR patients to identify possible variants related to this pathology. Interestingly, we identified three lncRNAs with different levels of their transcripts (SOCS2-AS, MEG3 and NEAT1) between HSCR patients and controls. We propose such lncRNAs as possible regulatory elements implicated in the onset of HSCR as well as potential biomarkers of this pathology.

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“…The patient had a point mutation in the mitochondrial genome (homoplasmic m.3398T3 C)-encoded MTND1 gene (Fig. 1A) (29). Of the 20 iPSC lines established from the patient's fibroblasts, two lines (DMRC-iPSC 13 and DMRC-iPSC 15) were used in this study.…”

Section: Resultsmentioning

confidence: 99%

Mitochondrial Respiratory Defect Causes Dysfunctional Lactate Turnover via AMP-activated Protein Kinase Activation in Human-induced Pluripotent Stem Cell-derived Hepatocytes

Jang

Park

et al. 2015

Journal of Biological Chemistry

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Background: Metabolic influences of defective mitochondrial respiration in hepatocytes remain elusive. Results: Mutation of mitochondrion-encoded NADH dehydrogenase 1 enhanced the activity of AMP-activated protein kinase (AMPK) and decreased lactate turnover in differentiated hepatocytes. Conclusion: Dysfunctional mitochondria in the hepatocytes may be responsible for lactic acidosis. Significance: This study provides new insight on the role of AMPK in lactic acidosis caused by mitochondrial dysfunction.

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Variable allelic expression of imprinted genes in human pluripotent stem cells during differentiation into specialized cell types in vitro

Cited by 7 publications

References 34 publications

Transcriptional Profiles of Imprinted Genes in Human Embryonic Stem Cells During In vitro Differentiation

Transcriptional Profiles of Imprinted Genes in Human Embryonic Stem Cells During In vitro Differentiation

Identification of New Potential LncRNA Biomarkers in Hirschsprung Disease

Mitochondrial Respiratory Defect Causes Dysfunctional Lactate Turnover via AMP-activated Protein Kinase Activation in Human-induced Pluripotent Stem Cell-derived Hepatocytes

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