ArticleGenes & development2016
Visualizing allele-specific expression in single cells reveals epigenetic mosaicism in an H19 loss-of-imprinting mutant.
Article in Genes & development, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 37 citations in OpenAlex.
- Elucidating the structure and function of the nucleus-The NIH Common Fund 4D Nucleome program.Molecular cell · 2023Review
- Variable allelic expression of imprinted genes at theFrontiers in cell and developmental biology · 2022Article
- Genomic Imprinting in the New Omics Era: A Model for Systems-Level Approaches.Frontiers in genetics · 2022Review
- Epigenetic mosaicism and cell burden in Beckwith-Wiedemann syndrome due to loss of methylation at imprinting control region 2.Cold Spring Harbor molecular case studies · 2021Article
- Article
- Review
- Modeling human epigenetic disorders in mice: Beckwith-Wiedemann syndrome and Silver-Russell syndrome.Disease models & mechanisms · 2020Review
- High-fidelity amplified FISH for the detection and allelic discrimination of single mRNA molecules.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- Allele-specific RNA imaging shows that allelic imbalances can arise in tissues through transcriptional bursting.PLoS genetics · 2019Article
- Allele-specific epigenome maps reveal sequence-dependent stochastic switching at regulatory loci.Science (New York, N.Y.) · 2018Article
- Accelerating a paradigm shift: The Common Fund Single Cell Analysis Program.Science advances · 2018Review
- Single Molecule Fluorescence In Situ Hybridization (smFISH) Analysis in Budding Yeast Vegetative Growth and Meiosis.Journal of visualized experiments : JoVE · 2018Article
- Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in mice.PLoS genetics · 2018Article
- Loss of imprinting mutations define both distinct and overlapping roles for misexpression of IGF2 and of H19 lncRNA.Nucleic acids research · 2017Article
- The emerging landscape ofF1000Research · 2017Review
- A reporter model to visualize imprinting stability at the Dlk1 locus during mouse development and in pluripotent cells.Development (Cambridge, England) · 2016Article
- Genetics and immunity in the era of single-cell genomics.Human molecular genetics · 2016Review
- Parent-of-Origin DNA Methylation Dynamics during Mouse Development.Cell reports · 2016Article
- What's Luck Got to Do with It: Single Cells, Multiple Fates, and Biological Nondeterminism.Molecular cell · 2016Review
- Making choices-how stochastic decisions determine disease progression.Genes & development · 2016Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
Imprinting is a classic mammalian epigenetic phenomenon that results in expression from a single parental allele. Imprinting defects can lead to inappropriate expression from the normally silenced allele, but it remains unclear whether every cell in a mutant organism follows the population average, which would have profound implications for human imprinting disorders. Here, we apply a new fluorescence in situ hybridization method that measures allele-specific expression in single cells to address this question in mutants exhibiting aberrant H19/Igf2 (insulin-like growth factor 2) imprinting. We show that mutant primary embryonic mouse fibroblasts are comprised of two subpopulations: one expressing both H19 alleles and another expressing only the maternal copy. Only in the latter cell population is Igf2 expression detected. Furthermore, the two subpopulations are stable in that cells do not interconvert between the two expression patterns. Combined small input methylation analysis and transcriptional imaging revealed that these two mutant subpopulations exhibit distinct methylation patterns at their imprinting control regions. Consistently, pharmacological inhibition of DNA methylation reduced the proportion of monoallelic cells. Importantly, we observed that the same two subpopulations are also present in vivo within murine cardiac tissue. Our results establish that imprinting disorders can display striking single-cell heterogeneity in their molecular phenotypes and suggest that such heterogeneity may underlie epigenetic mosaicism in human imprinting disorders.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.