Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Cadherins in Tissue Organization01:19

Cadherins in Tissue Organization

3.2K
The cadherins are a superfamily of cell adhesion molecules comprising over 180 variants, with specific tissues expressing a particular combination of cadherin types. Cadherins generally exhibit homophilic binding; i.e., cadherins on one cell bind to cadherins of the same or closely related type on another cell. Thus, cells of the same type have a specific affinity to bind to each other and sort themselves into clusters to form tissues.
Cell Sorting During Development
Cell sorting plays an...
3.2K
Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

5.2K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
5.2K
Master Transcription Regulators02:23

Master Transcription Regulators

7.2K
Master transcription regulators are regulatory proteins that are predominantly responsible for regulating the expression of multiple genes. Often these genes work in concert to drive a  complex process. Activation of a master transcription regulator can lead to a cascade of transcriptional activation necessary for that outcome. These regulators can directly bind to the regulatory sequences of the various genes involved, or they can indirectly regulate transcription by binding to regulatory...
7.2K
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

8.4K
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
8.4K
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

421
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
421
Mutations01:39

Mutations

85.7K
Overview
85.7K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

LDB1-dependent enhancer connectivity defines T-cell leukemia identities and masks metabolic vulnerabilities.

bioRxiv : the preprint server for biology·2026
Same author

A genomic and epigenomic lens into the biology of acute lymphoblastic leukaemia.

Nature reviews. Cancer·2026
Same author

FATP2-mediated lipid metabolism enhances chimeric antigen receptor T-cell therapy resistance in B-cell acute lymphoblastic leukemia.

Leukemia·2026
Same author

Condensates in fusion oncoprotein-driven leukemia: new biology and therapeutic opportunities.

Trends in cancer·2026
Same author

Long-term Follow-up of a Pediatric Regimen for AYA with Ph-negative ALL: 10-year Survival of CALGB 10403 (Alliance).

Blood advances·2026
Same author

Characterization of Genetic Etiologic Factors for Pediatric Acute Lymphoblastic Leukemia in Large Childhood Cancer Survivorship Cohorts.

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology·2026

Related Experiment Video

Updated: Oct 16, 2025

HOX Loci Focused CRISPR/sgRNA Library Screening Identifying Critical CTCF Boundaries
10:10

HOX Loci Focused CRISPR/sgRNA Library Screening Identifying Critical CTCF Boundaries

Published on: March 31, 2019

8.5K

Structure-function relationships explain CTCF zinc finger mutation phenotypes in cancer.

Charles G Bailey1,2,3, Shailendra Gupta4,5, Cynthia Metierre1,2

  • 1Cancer and Gene Regulation Laboratory Centenary Institute, The University of Sydney, Camperdown, NSW, 2050, Australia.

Cellular and Molecular Life Sciences : CMLS
|October 17, 2021
PubMed
Summary

Cancer-associated mutations in CCCTC-binding factor (CTCF) zinc fingers can disrupt DNA binding and gene regulation. Some mutations lead to loss-of-function, while others cause gain-of-function, explaining diverse cellular effects.

Keywords:
CTCFCancerGain-of-functionLoss-of-functionMolecular dockingMolecular dynamicsSomatic mutationZinc finger

More Related Videos

Mapping the Structure-Function Relationships of Disordered Oncogenic Transcription Factors Using Transcriptomic Analysis
09:58

Mapping the Structure-Function Relationships of Disordered Oncogenic Transcription Factors Using Transcriptomic Analysis

Published on: June 27, 2020

2.9K
In-Nucleus Hi-C in Drosophila Cells
11:58

In-Nucleus Hi-C in Drosophila Cells

Published on: September 15, 2021

4.3K

Related Experiment Videos

Last Updated: Oct 16, 2025

HOX Loci Focused CRISPR/sgRNA Library Screening Identifying Critical CTCF Boundaries
10:10

HOX Loci Focused CRISPR/sgRNA Library Screening Identifying Critical CTCF Boundaries

Published on: March 31, 2019

8.5K
Mapping the Structure-Function Relationships of Disordered Oncogenic Transcription Factors Using Transcriptomic Analysis
09:58

Mapping the Structure-Function Relationships of Disordered Oncogenic Transcription Factors Using Transcriptomic Analysis

Published on: June 27, 2020

2.9K
In-Nucleus Hi-C in Drosophila Cells
11:58

In-Nucleus Hi-C in Drosophila Cells

Published on: September 15, 2021

4.3K

Area of Science:

  • Molecular biology
  • Structural biology
  • Cancer genetics

Background:

  • CCCTC-binding factor (CTCF) is crucial for gene regulation and chromatin structure.
  • CTCF mutations are frequent in cancer, but their structural and functional impacts are poorly understood.

Purpose of the Study:

  • To investigate the molecular and structural effects of cancer-specific CTCF zinc finger mutations.
  • To correlate these structural changes with functional alterations in DNA binding, gene regulation, and cell proliferation.

Main Methods:

  • Molecular and structural characterization of five cancer-associated CTCF missense zinc finger mutations.
  • Functional assays assessing anti-proliferative effects, DNA binding affinity, and transcriptional regulation.
  • Molecular docking and molecular dynamics simulations to analyze mutation impacts on protein-DNA interactions.

Main Results:

  • Mutations L309P, R339W, and R377H completely abrogated CTCF's anti-proliferative effects, while R339Q showed intermediate abrogation and G420D enhanced it.
  • DNA binding at specific sites was disrupted, leading to abrogated transcriptional regulation for some mutants.
  • Molecular dynamics revealed that mutations affecting direct DNA contact caused loss-of-function, whereas R339Q and G420D gained stability via new DNA bonds.

Conclusions:

  • Cancer-associated CTCF zinc finger mutations exhibit a range of functional impacts, including loss-, change-, and gain-of-function.
  • These diverse effects on cell growth and gene regulation are explained by structure-function relationships.
  • Understanding these mutation impacts is key to explaining diverse cellular phenotypes in mutant CTCF-driven cancers.