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

Non-LTR Retrotransposons03:18

Non-LTR Retrotransposons

12.9K
As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
12.9K
Abnormal Proliferation02:23

Abnormal Proliferation

5.0K
Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
5.0K
piRNA - Piwi-interacting RNAs02:57

piRNA - Piwi-interacting RNAs

7.3K
PIWI-interacting RNAs, or piRNAs, are the most abundant short non-coding RNAs. More than 20,000 genes have been found in humans that code for piRNAs while only 2000 genes have been found for miRNAs. piRNAs can act at the transcriptional and post-transcriptional levels and have a vital role in silencing transposable elements present in germ cells. They are also involved in epigenetic silencing and activation. Previously, they were thought to function only in germ cells but new evidence suggests...
7.3K
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

9.2K
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...
9.2K
lncRNA - Long Non-coding RNAs02:39

lncRNA - Long Non-coding RNAs

9.6K
In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA...
9.6K
Tumor Progression02:07

Tumor Progression

7.1K
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...
7.1K

You might also read

Related Articles

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

Sort by
Same author

Exploring the resilience potentials of a responsive team managing clinical deterioration: A systems analysis.

Applied ergonomics·2026
Same author

Transdifferentiation of endothelial progenitor cells into rhabdomyosarcoma defined by hedgehog signaling competence.

Cell reports·2026
Same author

Identification of a novel intergenic EPCAM-MSH2 deletion causing EPCAM-associated Lynch syndrome by long-read nanopore sequencing.

Journal of medical genetics·2026
Same author

TP53 mutation at codon 179 metabolically reprograms cancer cells to promote invasion.

Cancer gene therapy·2026
Same author

YBX1 Expression Marks Proliferative Tumour States with Context-Dependent Genomic Instability: A Pan-Cancer Analysis.

International journal of molecular sciences·2026
Same author

Combined multi-omics and multi-spectral profiling of plasma extracellular vesicles reveals liquid biopsy biomarkers for glioma diagnosis.

Cell reports. Medicine·2026

Related Experiment Video

Updated: Dec 10, 2025

Yeast As a Chassis for Developing Functional Assays to Study Human P53
14:57

Yeast As a Chassis for Developing Functional Assays to Study Human P53

Published on: August 4, 2019

9.9K

Intronic TP53 Polymorphisms Are Associated with Increased Δ133TP53 Transcript, Immune Infiltration and Cancer Risk.

Ramona A Eiholzer1, Sunali Mehta1,2, Marina Kazantseva1,2

  • 1Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand.

Cancers
|September 5, 2020
PubMed
Summary

Specific TP53 gene variations in intron 4 increase cancer risk and shorten survival. These genetic factors promote tumor-promoting inflammation and cancer progression by altering TP53 isoform expression.

Keywords:
TP53glioblastomaprostate cancerrs1042522rs9895829 and rs2909430single nucleotide polymorphismΔ133p53

More Related Videos

Simple and Rapid Method to Obtain High-quality Tumor DNA from Clinical-pathological Specimens Using Touch Imprint Cytology
11:20

Simple and Rapid Method to Obtain High-quality Tumor DNA from Clinical-pathological Specimens Using Touch Imprint Cytology

Published on: March 21, 2018

11.2K
Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq
09:52

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq

Published on: April 19, 2013

24.7K

Related Experiment Videos

Last Updated: Dec 10, 2025

Yeast As a Chassis for Developing Functional Assays to Study Human P53
14:57

Yeast As a Chassis for Developing Functional Assays to Study Human P53

Published on: August 4, 2019

9.9K
Simple and Rapid Method to Obtain High-quality Tumor DNA from Clinical-pathological Specimens Using Touch Imprint Cytology
11:20

Simple and Rapid Method to Obtain High-quality Tumor DNA from Clinical-pathological Specimens Using Touch Imprint Cytology

Published on: March 21, 2018

11.2K
Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq
09:52

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq

Published on: April 19, 2013

24.7K

Area of Science:

  • Genetics
  • Molecular Biology
  • Cancer Research

Background:

  • The TP53 tumor suppressor gene plays a critical role in cancer development.
  • Single Nucleotide Polymorphisms (SNPs) in TP53 can influence gene function and cancer susceptibility.
  • TP53 isoforms, including Δ133p53 and TP53β, are implicated in cancer progression.

Purpose of the Study:

  • To investigate the impact of TP53 SNPs in exon 4 and intron 4 on cancer risk.
  • To determine the association between these SNPs and clinicopathological features.
  • To analyze the influence of SNPs on TP53 isoform expression and tumor microenvironment.

Main Methods:

  • Genotyping of selected TP53 SNPs in exon 4 and intron 4.
  • Case-control study comparing cancer cohorts with ethnically matched controls.
  • Analysis of clinicopathological data, patient survival, and immune cell infiltration.
  • Quantification of TP53 isoform transcripts (Δ133TP53 and TP53β).

Main Results:

  • Intron 4 SNPs were significantly over-represented in mixed cancer cohorts.
  • Specific SNP combinations (rs1042522(GC) heterozygosity with rs9895829(TC) or rs2909430(AG)) conferred a 2.34-5.35-fold increased cancer risk.
  • These SNP combinations correlated with shorter survival in glioblastoma and prostate cancer patients.
  • SNPs were associated with increased immune cell infiltration and elevated Δ133TP53 and TP53β transcript levels.

Conclusions:

  • Certain TP53 intron 4 SNPs are associated with increased cancer risk.
  • Specific SNP combinations enhance cancer risk and predict poorer patient survival.
  • These genetic variations promote tumor-associated inflammation and an immunosuppressive environment via altered TP53 isoform expression, driving cancer progression.