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

The Retinoblastoma Gene01:20

The Retinoblastoma Gene

4.2K
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.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.2K
Tumor Progression02:07

Tumor Progression

6.5K
Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
6.5K
Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

5.1K
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...
5.1K
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

8.0K
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...
8.0K
Replicative Cell Senescence02:15

Replicative Cell Senescence

3.7K
Replicative cell senescence is a property of cells that allows them to divide a finite number of times throughout the organism's lifespan while preventing excessive proliferation. Replicative senescence is associated with the gradual loss of the telomere — short, repetitive DNA sequences found at the end of the chromosomes. Telomeres are bound by a group of proteins to form a protective cap on the ends of chromosomes. Embryonic stem cells express telomerase — an enzyme that adds...
3.7K
Rous Sarcoma Virus (RSV) and Cancer01:03

Rous Sarcoma Virus (RSV) and Cancer

5.4K
Rous Sarcoma virus or RSV was discovered by F. Peyton Rous in the year 1911 as a filterable transmissible agent that could cause tumors in chickens. He won a Nobel Prize for this discovery in 1966. His experiments clearly demonstrated that some cancers could be caused by infectious agents and led to the discovery of many more cancer-causing viruses in animals as well as humans.
RSV is a retrovirus that contains two copies of a plus-strand  RNA genome. Its genome consists of four main open...
5.4K

You might also read

Related Articles

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

Sort by
Same author

Skin Epidermal Progenitor Maintenance by the SRCAP-H2A.Z Axis Downstream to Extracellular Signal-Regulated Kinase and mTOR Signaling.

The Journal of investigative dermatology·2025
Same author

CASZ1 Is Essential for Skin Epidermal Terminal Differentiation.

The Journal of investigative dermatology·2024
Same author

Nucleoporin downregulation modulates progenitor differentiation independent of nuclear pore numbers.

Communications biology·2023
Same author

NUP98 and RAE1 sustain progenitor function through HDAC-dependent chromatin targeting to escape from nucleolar localization.

Communications biology·2023
Same author

CDK9 activity switch associated with AFF1 and HEXIM1 controls differentiation initiation from epidermal progenitors.

Nature communications·2022
Same author

GPSmatch: an R package for comparing Genomic-binding Profile Similarity among transcriptional regulators using customizable databases.

Bioinformatics (Oxford, England)·2021

Related Experiment Video

Updated: Sep 10, 2025

In Vivo CRISPR/Cas9 Screening to Simultaneously Evaluate Gene Function in Mouse Skin and Oral Cavity
07:52

In Vivo CRISPR/Cas9 Screening to Simultaneously Evaluate Gene Function in Mouse Skin and Oral Cavity

Published on: November 2, 2020

6.6K

A dominant SRCAP truncating mutation promotes squamous cell carcinoma progression.

Stephenie H Droll1, Elena I O Dewar1, Celia Xue1

  • 1Northwestern University, Department of Molecular Biosciences, Evanston, IL, 60208, USA.

Oncogenesis
|August 26, 2025
PubMed
Summary

A novel SRCAP mutation (SRCAP-1879) drives epithelial cancer progression, increasing proliferation and invasion. This differs from SRCAP mutations linked to Floating-Harbor syndrome, highlighting a new role in skin cancer development.

More Related Videos

Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer
28:15

Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer

Published on: July 28, 2010

12.5K
An Immunofluorescent Method for Characterization of Barrett’s Esophagus Cells
08:54

An Immunofluorescent Method for Characterization of Barrett’s Esophagus Cells

Published on: July 20, 2014

14.1K

Related Experiment Videos

Last Updated: Sep 10, 2025

In Vivo CRISPR/Cas9 Screening to Simultaneously Evaluate Gene Function in Mouse Skin and Oral Cavity
07:52

In Vivo CRISPR/Cas9 Screening to Simultaneously Evaluate Gene Function in Mouse Skin and Oral Cavity

Published on: November 2, 2020

6.6K
Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer
28:15

Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer

Published on: July 28, 2010

12.5K
An Immunofluorescent Method for Characterization of Barrett’s Esophagus Cells
08:54

An Immunofluorescent Method for Characterization of Barrett’s Esophagus Cells

Published on: July 20, 2014

14.1K

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Epithelial cancers, including cutaneous squamous cell carcinoma (cSCC), are a major cause of cancer deaths.
  • The SRCAP gene, a chromatin remodeler, is frequently mutated in cSCC.
  • SRCAP mutations are known to cause Floating-Harbor syndrome (FHS), but their role in cSCC is less understood.

Purpose of the Study:

  • To investigate the role of a specific SRCAP truncating mutation (SRCAP-1879) in cSCC pathogenesis.
  • To differentiate the effects of the SRCAP-1879 mutation from SRCAP mutations associated with FHS.

Main Methods:

  • Analysis of cSCC mutations to identify a hotspot SRCAP truncation (SRCAP-1879).
  • Expression of SRCAP-1879 and SRCAP-FHS truncations in a cSCC model and primary human keratinocytes.
  • Assessment of proliferation, differentiation, invasion, gene expression (MMP9), and cell motility.

Main Results:

  • The SRCAP-1879 mutation significantly increased proliferation, impaired differentiation, and accelerated invasion in cSCC models.
  • SRCAP-1879 dysregulated key cancer-related genes in keratinocytes without altering H2A.Z occupancy.
  • SRCAP-1879 strongly induced MMP9 expression and keratinocyte motility, unlike the SRCAP-FHS mutation which reduced motility.

Conclusions:

  • The SRCAP-1879 truncating mutation plays a distinct and significant role in promoting epithelial cancer progression, particularly invasion.
  • This finding expands the understanding of SRCAP's function in cancer beyond its known role in FHS.
  • Targeting MMP9 may offer therapeutic strategies for cSCC driven by SRCAP-1879 mutations.