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Smchd1 regulates autosomal genes subject to monoallelic expression

ABSTRACT: Analysis of the genes that escape silencing in the MommeD1 allele of Smchd1

ORGANISM(S): Mus musculus

PROVIDER: GSE44958 | GEO | 2013/07/03

SECONDARY ACCESSION(S): PRJNA192618

REPOSITORIES: GEO

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Smchd1 regulates autosomal genes subject to monoallelic expression

Project description:Analysis of the genes that escape silencing in the MommeD1 allele of Smchd1 Total RNA from E9.5 embryos compared in a two factor design - gender and Smchd1 genotype

2013-07-03 | E-GEOD-44958 | biostudies-arrayexpress

Smchd1 regulates a subset of autosomal genes subject to monoallelic expression in addition to being critical for X inactivation.

Project description: Not available

| S-EPMC3707822 | biostudies-literature

Investigating the role of SMCHD1 in regulating the chromatin states of select autosomal gene clusters

Project description:To investigate the effect of Smchd1 ablation on the chromatin states of select autosomal gene clusters, we derived clonal neural progenitor cells (NPCs) from Smchd1+/+ (wild-type, WT) and Smchd1-/- mouse embryonic stem cells (ES cells; ESC). We generated allele-specific EZH2 ChIP-seq datasets from WT and Smchd1-/- NPCs to examine the effect of Smchd1 ablation on the distribution of Polycomb repressive complex 2 (PRC2).

2021-07-23 | GSE117636 | GEO

Investigating the role of SMCHD1 in de novo X chromosome inactivation

Project description:To investigate the effect of Smchd1 ablation on de novo X chromosome inactivation (XCI), we derived clonal neural progenitor cells (NPCs) from Smchd1+/+ (wild-type, WT) and Smchd1-/- mouse embryonic stem cells (ES cells; ESC). We generated allele-specific RNA-seq datasets from WT and Smchd1-/- NPCs to examine the effect of Smchd1 ablation on gene silencing. In addition, we produced allele-specific ChIP-seq profiles of H3K4me3, H3K27me3, CTCF, and RAD21 and Xist CHART-seq profiles in WT and Smchd1-/- NPCs to investigate the role of SMCHD1 on the distribution of euchromatin, facultative heterochromatin, architectural proteins, and Xist RNA on the inactive X chromosome (Xi). To determine the localization of SMCHD1 on the Xi, we employed allele-specific DamID-seq to map SMCHD1-binding regions in female mouse embryonic fibroblasts. Furthermore, we performed in situ Hi-C on WT NPCs, Smchd1-/- NPCs, and female ES cells undergoing XCI, in order to explore the role of SMCHD1 in regulating the higher-order structure of the Xi.

2018-06-07 | GSE99991 | GEO

The effect on gene expression of Smchd1 deletion in premalignant pre-B cells

Project description:Smchd1 appears to act as a tumour suppressor in the Eµ-Myc B cell lymphoma model. We find gene expression differences are most pronounced in premalignant cells. We always detect a small number of clustered genes and imprinted genes as differentially expressed, along with others involved in tumorigenesis. The microarrays compared Smchd1 null and Smchd1 wildtype samples from premalignant pre-B cells. All samples are on the C57BL/6 background, and carry the Eµ-Myc transgene. Smchd1 null samples are additionally homozygous for a Smchd1 genetrap allele.

2012-09-30 | E-GEOD-40881 | biostudies-arrayexpress

A proteomics study identifying interactors of the FSHD2 gene product SMCHD1 reveals RUVBL1-dependent DUX4 repression.

Project description:Structural Maintenance of Chromosomes Hinge Domain Containing 1 (SMCHD1) is a chromatin repressor, which is mutated in >95% of Facioscapulohumeral dystrophy (FSHD) type 2 cases. In FSHD2, SMCHD1 mutations ultimately result in the presence of the cleavage stage transcription factor DUX4 in muscle cells due to a failure in epigenetic repression of the D4Z4 macrosatellite repeat on chromosome 4q, which contains the DUX4 locus. While binding of SMCHD1 to D4Z4 and its necessity to maintain a repressive D4Z4 chromatin structure are well documented, it is unclear how SMCHD1 is recruited to D4Z4, and how it exerts its repressive properties on the chromatin. Here, we employ a quantitative proteomics approach to identify and characterize novel SMCHD1 interacting proteins, and assess their functionality in D4Z4 repression. We identify 47 robust SMCHD1 interactors, of which 19 are present in D4Z4 chromatin. We demonstrate that one of these SMCHD1 interacting proteins in D4Z4, RuvB-like 1 (RUVBL1) is indeed required for maintaining DUX4 silencing in FSHD myocytes. We also confirm the interaction of SMCHD1 with EZH inhibitory protein (EZHIP), which prevents global H3K27me3 deposition by the Polycomb repressive complex PRC2, providing novel insights into the potential function of SMCHD1 in the repression of DUX4 in the early stages of embryogenesis. The SMCHD1 interactome outlined herein can thus provide further direction into research on the potential function of SMCHD1 at genomic loci where SMCHD1 is known to act, such as D4Z4 repeats, the inactive X chromosome, autosomal gene clusters, imprinted loci and telomeres.

2021-12-15 | PXD023993 | Pride

Genome wide RNA-seq analysis of E9.5 Smchd1 wild type and mutant embryos

Project description:We report the deregulation of expression in E9.5 male mouse embryos are that homozygous for a mutant allele of the Smchd1 gene (ie Smchd1MommeD1/MommeD1). RNA-seq analysis of Smchd1+/+ vs Smchd1MommeD1/MommeD1

2013-07-03 | E-GEOD-44665 | biostudies-arrayexpress

The effect on gene expression of Smchd1 deletion in end stage lymphomas

Project description:Smchd1 appears to act as a tumour suppressor in the Eµ-Myc B cell lymphoma model. We find gene expression differences are most pronounced in the premalignant cells, and observe more variability in end stage lymphomas. We always detect a small number of clustered genes and imprinted genes as differentially expressed, along with others involved in tumorigenesis. The microarrays compared Smchd1 null and Smchd1 wildtype samples from end stage lymphomas. All lymphomas are on the C57BL/6 background and carry the Eµ-Myc transgene, and Smchd1 null samples are additionally homozygous for a Smchd1 genetrap allele.

2012-09-30 | E-GEOD-40880 | biostudies-arrayexpress

Genome wide RNA-seq analysis of E14.5 Smchd1 wild type and mutant placenta

Project description:We report the deregulation of expression in Fi (C57Bl6/J x FVB/n) E14.5 male mouse placenta are that homozygous for a mutant allele of the Smchd1 gene (ie Smchd1MommeD1/MommeD1). RNA-seq analysis of Smchd1+/+ vs Smchd1MommeD1/MommeD1

2013-07-03 | E-GEOD-44668 | biostudies-arrayexpress

RNA-seq in Smchd1 wild-type and Smchd1 deleted differentiating male ES cells.

Project description:We sought to examine whether the non-canonical SMC protein Smchd1 plays a role in chromosome conformation. We used in situ Hi-C to analyse chromosome conformation changes upon deletion of the epigenetic regulator Smchd1 in female neural stem cells. In parallel, we analysed nucleosome accessibility using ATAC-seq, gene expression using RNA-seq, chromatin marks H3K27me3 and H3K27ac and Ctcf binding using ChIP-seq. We additionally analysed Smchd1 binding genome-wide using ChIP-seq. Together, we find that deletion of Smchd1 alters chromosome conformation at Smchd1 target genes including the inactive X chromosome, Hox genes and imprinted loci. Smchd1 deletion in differentiating ES cells results in failed Hox gene silencing. Smchd1 deletion results in gain in Ctcf binding and activation of enhancers. We propose Smchd1 functions by limiting Ctcf-mediated chromosome looping.

2018-06-30 | GSE111724 | GEO

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