Expansion of the genotypic and phenotypic spectrum of CTCF-related ...
Abstract. Monoallelic variants of CTCF cause an autosomal dominant neurodevelopmental disorder with a wide range of features, including impacts on the brain, growth, and craniofacial development. A growing number of subjects with CTCF-related disorder (CRD) have been identified due to the increased application of exome sequencing, and further delineation of the clinical spectrum of CRD is needed.
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An updated catalog of CTCF variants associated with neurodevelopmental ...
Abstract Introduction. CTCF-related disorder (CRD) is a neurodevelopmental disorder (NDD) caused by monoallelic pathogenic variants in CTCF.The first CTCF variants in CRD cases were documented in 2013. To date, 76 CTCF variants have been further described in the literature. In recent years, due to the increased application of next-generation sequencing (NGS), growing numbers of CTCF variants ...
CTCF shapes chromatin structure and gene expression in health and ...
Global transcription inhibition stabilizes CTCF clusters (Gu et al, 2020), and several non‐coding RNAs have been shown to destabilize the interaction between CTCF and DNA, which leads to loss of CTCF–CTCF loops (Sun et al, 2013; Oh et al, 2021a). Together, these data indicate that the non‐coding RNA portfolio in the cell might constitute ...
A Genome-wide Map of CTCF Multivalency Redefines the CTCF Code
The “CTCF code” hypothesis posits that CTCF pleiotropic functions are driven by recognition of diverse sequences through combinatorial use of its 11 zinc fingers (ZFs). ... On the one hand, ZF3 recapitulates the binding spectrum of core ZF mutants at C sites. On the other hand, in the presence of the U motif ZF3 contribution to CTCF binding ...
CTCF variants in 39 individuals with a variable neurodevelopmental ...
Mutational spectrum encompasses large deletions, likely gene-disruptive, and missense variants. The identified aberrations in CTCF include two large deletions in 16q22.1, encompassingCTCF plus 26 ...
A Genome-wide Map of CTCF Multivalency Redefines the CTCF Code - Cell Press
CTCF is a nuclear architectural protein that binds to thousands of highly diverse sequences in eukaryotes. The current hypothesis, known as the “CTCF code,” proposes that CTCF binds DNA targets through combinatorial use of its 11 zinc fingers (ZFs). ... On the opposite end of the spectrum, ZF7 recovered to 80% fluorescence in 3.2 s (Figure ...
Expansion of the genotypic and phenotypic spectrum of CTCF‐related ...
Monoallelic variants of CTCF cause an autosomal dominant neurodevelopmental disorder with a wide range of features, including impacts on the brain, growth, and craniofacial development. A growing number of subjects with CTCF-related disorder (CRD) have been identified due to the increased application of exome sequencing, and further delineation of the clinical spectrum of CRD is needed.
Comprehensive Identification and Annotation of Cell Type-Specific and ...
TOMTOM analyses showed that CTCF-binding sites were associated with a wide spectrum of cis-regulatory elements. To detect associations between TF-binding motifs and GO terms, the MEME tool GOMO , was used to assign functional roles to cell type-specific and ubiquitous CTCF-binding motifs. The first three over-represented motifs within cell type ...
CTCF variants in 39 individuals with a variable neurodevelopmental ...
By assembling data on additional 36 individuals with pathogenic or likely pathogenic variants in CTCF we considerably contribute to the delineation of the mutational and clinical spectrum of CTCF-associated NDDs. The phenotype associated with CTCF aberrations is highly variable. All individuals presented with developmental delay and/or a ...
Expansion of the genotypic and phenotypic spectrum of CTCF-related ...
Expansion of the genotypic and phenotypic spectrum of CTCF-related disorder guides clinical management: 43 new subjects and a comprehensive literature review. / Valverde de Morales, Hannah Gabriela; Wang, Hsiao Lin V.; Garber, Kathryn et al. In: American Journal of Medical Genetics, Part A, Vol. 191, No. 3, 03.2023, p. 718-729.
Distinct properties and functions of CTCF revealed by a rapidly ...
Despite the presence of CTCF at nearly 90% of TAD boundaries in mammalian cells (Dixon et al., 2012), the majority of CBSs reside within chromatin domains—near enhancers, promoters, or even within gene bodies (GBs)— reflecting a wide variety of activities including transcription activation, repression, elongation, and pre-mRNA splicing (Phillips and Corces, 2009).
Expansion of the genotypic and phenotypic spectrum of CTCF‐related ...
The findings expanded the genotypic and phenotypic spectrum of CRD that will guide genetic counseling, management, and surveillance care for patients with CRD and a newly built facial gestalt on the Face2Gene tool will facilitate prompt recognition ofCRD by physicians and shorten a patient's diagnostic odyssey. Monoallelic variants of CTCF cause an autosomal dominant neurodevelopmental ...
Genome-wide targeting of the epigenetic regulatory protein CTCF to gene ...
CTCF interacts with transcription factor TFII-I. (A) Mass spectrometry analysis of CTCF interacting proteins from MDA-MB-435 cells reveals association with known cofactors and a novel partner, TFII-I. Peptide number, Mascot, and emPAI scores were calculated using Matrix Science software.(B) Forward and reverse co-IP of MDA-MB-435 extracts using anti-CTCF and TFII-I antibodies.
The structural and functional roles of CTCF in the regulation of cell ...
CCCTC-binding factor (CTCF), a transcriptional repressor that insulates the expression of neighboring genes and is involved in chromatin interactions, is frequently present in the boundary regions of or within super-enhancers. However, the structural and functional roles of CTCF in regulating super-enhancers remain elusive.
Expansion of the genotypic and phenotypic spectrum of CTCF-related ...
Monoallelic variants of CTCF cause an autosomal dominant neurodevelopmental disorder with a wide range of features, including impacts on the brain, growth, and craniofacial development. ... we examined the clinical features, including facial profiles, and genotypic spectrum of 107 subjects with identified CTCF variants, including 43 new and 64 ...
CTCF variants in 39 individuals with a variable neurodevelopmental ...
Abstract Purpose. Pathogenic variants in the chromatin organizer CTCF were previously reported in seven individuals with a neurodevelopmental disorder (NDD).. Methods. Through international collaboration we collected data from 39 subjects with variants in CTCF.We performed transcriptome analysis on RNA from blood samples and utilized Drosophila melanogaster to investigate the impact of Ctcf ...
Expansion of the genotypic and phenotypic spectrum of CTCF ‐related ...
Here, we examined the clinical features, including facial profiles, and genotypic spectrum of 107 subjects with identified CTCF variants, including 43 new and 64 previously described subjects ...
Expanding the mutational and clinical spectrum of Chinese intellectual ...
Abstract. CCCTC-Binding Factor (CTCF) is a protein-coding gene involved in transcriptional regulation, insulator activity, and regulation of chromatin structure, and is closely associated with intellectual developmental disorders.In this study, we report two unrelated Chinese patients with intellectual disability (ID). According to variant interpretation results from exome sequencing data and ...