mavii

Construction and phenotypic characterization of CTCF R567W-mutant mice. The R567 residue of CTCF, a conserved residue across most known orthologues (Fig. 1a), is located proximal to the splice ...

Clinically identified mutations in CTCF have been linked to adverse developmental outcomes. Nevertheless, the underlying mechanism remains elusive. ... CTCF mutation at R567 causes developmental disorders via 3D genome rearrangement and abnormal neurodevelopment Nat Commun. 2024 Jul 1;15(1):5524. doi: 10.1038/s41467-024-49684-1.

Additionally, we find that the heterozygous CTCF-R567W (Ctcf +/R567W) mutation significantly compromises cardiac contractility in 8-week-old mice. This study elucidates the mechanism by which the CTCF-R567W mutation hampers cardiac development, underscoring the essential role of CTCF-R567 in embryonic heart development and maturation.

CTCF mutations, encompassing deletions, frameshift, and missense mutations. These variations are highly correlated with potential ... The R567 residue of CTCF, a conserved residue across most ...

Construction of CTCFR567W-mutant mice and phenotypic analysis a The amino acid (aa) conservation of CTCF around R567 across species. CTCF ZF11 residues annotated in UniProt are marked with a green ...

In conclusion, our results suggest that the Ctcf homozygous mutation at R567 impairs neural activity and network function. CTCF R567W mutation induces premature depletion of progenitor cells and accelerates the maturation of GABAergic neurons. CTCF plays a crucial role in transcriptional regulation 31–33.

CTCF mutation at R567 causes developmental disorders via 3D genome rearrangement and abnormal neurodevelopment - Nature Communications. Clinically identified mutations in CTCF have been linked to adverse developmental outcomes. Here, the authors explore the regulatory roles of the CTCFR567W point mutation, by introducing it into both murine ...

In summary, R567 within CTCF plays a crucial role in embryonic heart development and maturation in mice. 4. Discussion. CTCF mutations inflict extensive impairments on various vital organs, including the brain, heart, skeletal muscles, bones, and genitourinary system . In this study, histochemical experiments and multi‐omics analysis were ...

Other mutation studies show the abrogation of CTCF binding at only select DNA binding sites, not all, supporting the idea that mutations in CTCF can result in a gain or change of function (Filippova et al., 2002). This remains to be explored with respect to genome-wide binding, chromatin structure and gene regulation.

In summary, R567 within CTCF plays a crucial role in embryonic heart development and maturation in mice. 4 Discussion. CTCF mutations inflict extensive impairments on various vital organs, including the brain, heart, skeletal muscles, bones, and genitourinary system . In this study, histochemical experiments and multi-omics analysis were ...

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 explored the regulatory roles of a clinically relevant R567W point mutation, located within the 11th zinc finger of CTCF, by introducing ...

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 ...

Additionally, we find that the heterozygous CTCF-R567W (Ctcf+/R567W) mutation significantly com-promises cardiac contractility in 8-week-old mice. This study elucidates the mechanism by which the CTCF-R567W mutation hampers cardiac development, underscoring the essential role of CTCF-R567 in embryonic heart development and maturation.

CTCF mutation at R567 causes developmental disorders via 3D genome rearrangement and abnormal neurodevelopment. Journal: Nature Communications Published: 2024-07-01

CTCF mutation at R567 causes developmental disorders via 3D genome rearrangement and abnormal neurodevelopment. Jie Zhang, # 1, 2 Gongcheng Hu, # 3 Yuli Lu, # 1, 4 Huawei Ren, # 5 Yin Huang, 3 Yulin Wen, 1, 4 Binrui Ji, 1, 6 Diyang Wang, 7 Haidong Wang, 5 Huisheng Liu, 3 Ning Ma, 3 Lingling Zhang, 8 Guangjin Pan, 1, 4 Yibo Qu, 7 Hua Wang, 8 Wei ...

CTCF mutation at R567 causes developmental disorders via 3D genome rearrangement and abnormal neurodevelopment. Download Authors: Jie Zhang, Gongcheng Hu, Yuli Lu, Huawei Ren, Yin Huang, Yulin Wen, Binrui Ji, Diyang Wang, Haidong Wang, Huisheng Liu, Ning Ma, Lingling Zhang, Guangjin Pan, Yibo Qu, Hua Wang, Wei Zhang, Zhichao Miao and Hongjie ...

AbstractThe three-dimensional genome structure organized by CTCF is required for development. Clinically identified mutations inCTCFhave been linked to adverse developmental outcomes. Nevertheless, the underlying mechanism remains elusive. In this investigation, we explored the regulatory roles of a clinically relevant R567W point mutation, located within the 11thzinc finger of CTCF, by ...

Downloadable! 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 ...

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 explored the regulatory roles of a clinically relevant R567W point mutation, located within the 11 th zinc finger of CTCF, by ...

CTCF mutation at R567 causes developmental disorders via 3D genome rearrangement and abnormal neurodevelopment. Jie Zhang, Gongcheng Hu, Yuli Lu, Huawei Ren, Yin Huang, Yulin Wen, Binrui Ji, Diyang Wang, Haidong Wang, Huisheng Liu, Ning Ma, Lingling Zhang, Guangjin Pan, Yibo Qu, Hua Wang, Wei Zhang, Zhichao Miao, Hongjie Yao ...