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Amelioration of Brain Histone Methylopathies by Balancing a Writer-Eraser Duo KMT2A-KDM5C [RNA-seq]

ABSTRACT: We describe a methyl histone writer-eraser double-mutant animal that corrects phenotypes of single-mutants KMT2A and KDM5C.

ORGANISM(S): Mus musculus

PROVIDER: GSE127722 | GEO | 2020/06/16

REPOSITORIES: GEO

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Amelioration of Brain Histone Methylopathies by Balancing a Writer-Eraser Duo KMT2A-KDM5C [ChIP-seq]

Project description:We describe a methyl histone writer-eraser double-mutant animal that corrects phenotypes of single-mutants KMT2A and KDM5C.

2020-06-16 | GSE127817 | GEO

Amelioration of Brain Histone Methylopathies by Balancing a Writer-Eraser Duo KMT2A-KDM5C

Project description:Amelioration of Brain Histone Methylopathies by Balancing a Writer-Eraser Duo KMT2A-KDM5C

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Amelioration of Brain Histone Methylopathies by Balancing a Writer-Eraser Duo KMT2A-KDM5C [ChIP-seq]

Project description:Amelioration of Brain Histone Methylopathies by Balancing a Writer-Eraser Duo KMT2A-KDM5C [ChIP-seq]

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Amelioration of Brain Histone Methylopathies by Balancing a Writer-Eraser Duo KMT2A-KDM5C [RNA-seq]

Project description:Amelioration of Brain Histone Methylopathies by Balancing a Writer-Eraser Duo KMT2A-KDM5C [RNA-seq]

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Amelioration of Brain Histone Methylopathies by Balancing a Writer-Eraser Duo KMT2A-KDM5C

Project description:This SuperSeries is composed of the SubSeries listed below.

2020-06-16 | GSE127818 | GEO

Sexually Dimorphic Alterations in the Transcriptome and Behavior with Loss of Histone Demethylase KDM5C

Project description:Chromatin dysregulation has emerged as a major hallmark of neurodevelopmental disorders such as intellectual disability (ID) and autism spectrum disorders (ASD). The prevalence of ID and ASD is higher in males compared to females, with un-known mechanisms. Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type (MRXSCJ), is caused by loss-of-function mutations of lysine de-methylase 5C (KDM5C), a histone H3K4 demethylase gene. KDM5C escapes X-inactivation, thereby presenting at a higher level in females. Initially, MRXSCJ was exclusively reported in males, while it is increasingly evident that females with heterozygous KDM5C mutations can show cognitive deficits. The mouse model of MRXSCJ, male Kdm5c-hemizygous knockout animals, recapitulates key features of human male patients. However, the behavioral and molecular traits of Kdm5c-heterozygous female mice remain incompletely characterized. Here, we re-port that gene expression and behavioral abnormalities are readily detectable in Kdm5c-heterozygous female mice, demonstrating the requirement for a higher KDM5C dose in females. Furthermore, we found both shared and sex-specific con-sequences of a reduced KDM5C dose in social behavior, gene expression, and ge-netic interaction with the counteracting enzyme KMT2A. These observations pro-vide an essential insight into the sex-biased manifestation of neurodevelopmental disorders and sex chromosome evolution.

2023-02-15 | GSE206346 | GEO

NO001: Kdm5c controls promoter and enhancer activities

Project description:The functional organization of eukaryotic genomes correlates with specific patterns of histone methylations. Regulatory regions in genomes like enhancers and promoters differ in their extent of methylation of histone H3 at lysine-4 (H3K4), but it is largely unknown how the different methylation states are specified and controlled. Here, we show that the Kdm5c/Jarid1c/SMCX member of the Kdm5 family of H3K4 demethylases can be recruited to both enhancer and promoter elements in embryonic stem cells and neuronal progenitor cells via gene-specific transcription factors. Knockdown of Kdm5c deregulates transcription via local increases in H3K4me3. Our data show that restricting H3K4me3 modification at core promoters dampens transcription, but Kdm5c is required at enhancers for their full activity. Remarkably, an impaired enhancer function activates the intrinsic promoter activity of Kdm5c-bound distal elements. Our results demonstrate that the Kdm5c demethylase plays a crucial and dynamic role in the functional discrimination between enhancers and core promoters. RNA from four independent cultures from each sh Kdm5c #1, sh Kdm5c #2 and non-targeting shRNA polyclonal cell lines were hybridized in dye-swap against a common reference of RNA from IB10 ES cells.

2013-04-05 | E-GEOD-38862 | biostudies-arrayexpress

The Kdm5c histone demethylase controls enhancer and promoter function.

Project description:Here, we show that the Kdm5c/Smcx member of the Jarid1 family of H3K4 demethylases is recruited to both enhancer and core promoter elements in ES and neuronal progenitor cells (NPC). Knockdown of Kdm5c deregulates transcription via a local increase in H3K4me3. While at core promoters the function of Kdm5c is to restrict transcription, loss of Kdm5c impairs enhancer function. Remarkably, an impaired enhancer function activates promoter activity from Kdm5c-bound intergenic regions. Our results demonstrate that the Kdm5c demethylase plays a crucial role in the functional identity and discrimination of enhancers and core promoters. We speculate that this is related to recruitment of H3K4me3 binders like the TFIID and NURF complexes6-8. Providing functional identity to genomic regions through balancing enzymes that deposit and remove histone modifications may prove to be a general epigenetic mechanism for the functional indexing of eukaryotic genomes. Examination of the KDM5C binding sites in mouse embryonic stem cells and in neuronal progenitor cells. Effect of KDM5C knock down on H3K4me3 and H3K4me1 levels and gene expression.

2013-04-01 | E-GEOD-34975 | biostudies-arrayexpress

NO001: Kdm5c controls promoter and enhancer activities

Project description:RNA from four independent cultures from each sh Kdm5c #1, sh Kdm5c #2 and non-targeting shRNA polyclonal cell lines were hybridized in dye-swap against a common reference of RNA from IB10 ES cells

2013-04-05 | E-MTAB-1177 | biostudies-arrayexpress

KMT2A-rearranged leukemia proteomics

Project description:Activating mutations in kinase/PI3K/RAS signaling pathways are common in acute leukemia with KMT2A rearrangements (KMT2A-R). These mutations are often subclonal and their biological impact remain unclear. Using a retroviral acute myeloid leukemia model, we demonstrate that NRASG12D, FLT3ITD, and FLT3N676K accelerates KMT2A-MLLT3 leukemia onset. Importantly, also the presence of subclonal FLT3N676K in KMT2A-R leukemic cells shorten disease latency, possibly by providing stimulatory factors such as Mif. Acquired de novo mutations in Braf, Cbl, Kras, and Ptpn11 were identified in KMT2A-MLLT3 driven leukemia and favored clonal expansion. KMT2A-MLLT3 leukemia with an activating mutation enforce Myc- and Myb transcriptional modules, whereas KMT2A-MLLT3 leukemias lacking activating mutations displayed upregulation of signal transduction pathways. Our results provide new insight into the biology of KMT2A-R leukemia and highlights the importance of activated signaling as a contributing driver in this disease.

2018-05-02 | PXD008213 | Pride

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