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CTCF mutation at R567 affects mouse heart development via 3D genome rearrangement and transcription dysregulation [RNA-seq]

ABSTRACT: In this study, we analyzed gene expression change in heart tissues from wild-type, Ctcf heterozygous and homozygous mutant mice by using RNA-seq.

ORGANISM(S): Mus musculus

PROVIDER: GSE262508 | GEO | 2025/04/09

REPOSITORIES: GEO

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CTCF point mutation at R567 disrupts mouse heart development via 3D genome rearrangement and transcription dysregulation [RNA-seq]

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CTCF mutation at R567 causes developmental disorders via 3D genome rearrangement and abnormal neurodevelopment.

Project description:The three-dimensional genome structure organized by CTCF is required for development. Clinically identified mutations in CTCF have been linked to adverse developmental outcomes. Nevertheless, the underlying mechanism remains elusive. In this investigation, we explore the regulatory roles of a clinically relevant R567W point mutation, located within the 11th zinc finger of CTCF, by introducing this mutation into both murine models and human embryonic stem cell-derived cortical organoid models. Mice with homozygous CTCFR567W mutation exhibit growth impediments, resulting in postnatal mortality, and deviations in brain, heart, and lung development at the pathological and single-cell transcriptome levels. This mutation induces premature stem-like cell exhaustion, accelerates the maturation of GABAergic neurons, and disrupts neurodevelopmental and synaptic pathways. Additionally, it specifically hinders CTCF binding to peripheral motifs upstream to the core consensus site, causing alterations in local chromatin structure and gene expression, particularly at the clustered protocadherin locus. Comparative analysis using human cortical organoids mirrors the consequences induced by this mutation. In summary, this study elucidates the influence of the CTCFR567W mutation on human neurodevelopmental disorders, paving the way for potential therapeutic interventions.

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CTCF point mutation at R567 disrupts mouse heart development via 3D genome rearrangement and transcription dysregulation [4C-seq]

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