ArticleGenome biology2008
A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development.
Article in Genome biology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers.
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59 citing papers in PubMed, 122 citations in OpenAlex.
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- Loss of Baz1b in mice causes perinatal lethality, growth failure, and variable multi-system outcomes.Developmental biology · 2024Article
- SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease.Nature communications · 2023Article
- A LGR5 reporter pig model closely resembles human intestine for improved study of stem cells in disease.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2023Article
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- Uncovering Regulators of Heterochromatin Mediated Silencing Using a Zebrafish Transgenic Reporter.Frontiers in cell and developmental biology · 2022Article
- The role of MORC3 in silencing transposable elements in mouse embryonic stem cells.Epigenetics & chromatin · 2021Article
- BAZ1B the Protean Protein.Genes · 2021Review
- An N-ethyl-N-Nitrosourea Mutagenesis Screen in Mice Reveals a Mutation inAnimals : an open access journal from MDPI · 2021Article
- Single-cell dynamics of chromatin activity during cell lineage differentiation in Caenorhabditis elegans embryos.Molecular systems biology · 2021Article
- Review
- The effects of the DNA Demethylating reagent, 5-azacytidine on SMCHD1 genomic localization.BMC genetics · 2020Article
- Dosage analysis of the 7q11.23 Williams region identifiesScience advances · 2019Article
- SMCHD1 terminates the first embryonic genome activation event in mouse two-cell embryos and contributes to a transcriptionally repressive state.American journal of physiology. Cell physiology · 2019Article
- Quantitative Phosphoproteomic and Physiological Analyses Provide Insights into the Formation of the Variegated Leaf inInternational journal of molecular sciences · 2019Article
- Small noncoding RNAs in FSHD2 muscle cells reveal both DUX4- and SMCHD1-specific signatures.Human molecular genetics · 2018Article
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSome years ago we established an N-ethyl-N-nitrosourea screen for modifiers of transgene variegation in the mouse and a preliminary description of the first six mutant lines, named MommeD1-D6, has been published. We have reported the underlying genes in three cases: MommeD1 is a mutation in SMC hinge domain containing 1 (Smchd1), a novel modifier of epigenetic gene silencing; MommeD2 is a mutation in DNA methyltransferase 1 (Dnmt1); and MommeD4 is a mutation in Smarca 5 (Snf2h), a known chromatin remodeler. The identification of Dnmt1 and Smarca5 attest to the effectiveness of the screen design.
resultsWe have now extended the screen and have identified four new modifiers, MommeD7-D10. Here we show that all ten MommeDs link to unique sites in the genome, that homozygosity for the mutations is associated with severe developmental abnormalities and that heterozygosity results in phenotypic abnormalities and reduced reproductive fitness in some cases. In addition, we have now identified the underlying genes for MommeD5 and MommeD10. MommeD5 is a mutation in Hdac1, which encodes histone deacetylase 1, and MommeD10 is a mutation in Baz1b (also known as Williams syndrome transcription factor), which encodes a transcription factor containing a PHD-type zinc finger and a bromodomain. We show that reduction in the level of Baz1b in the mouse results in craniofacial features reminiscent of Williams syndrome.
conclusionsThese results demonstrate the importance of dosage-dependent epigenetic reprogramming in the development of the embryo and the power of the screen to provide mouse models to study this process.
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