Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Telomeres and Telomerase

Telomeres and Telomerase

In eukaryotic DNA replication, a single-stranded DNA fragment remains at the end of a chromosome after the removal of the final primer. This section of DNA cannot be replicated in the same manner as the rest of the strand because there is no 3’ end to which the newly synthesized DNA can attach. This non-replicated fragment results in gradual loss of the chromosomal DNA during each cell duplication. Additionally, it can induce a DNA damage response by enzymes that recognize single-stranded DNA.

Telomeres and Telomerase

Telomeres and Telomerase

In eukaryotic DNA replication, a single-stranded DNA fragment remains at the end of a chromosome after the removal of the final primer. This section of DNA cannot be replicated in the same manner as the rest of the strand because there is no 3’ end to which the newly synthesized DNA can attach. This non-replicated fragment results in gradual loss of the chromosomal DNA during each cell duplication. Additionally, it can induce a DNA damage response by enzymes that recognize single-stranded DNA.

Histone Variants at the Centromere

Histone Variants at the Centromere

Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3 variants are also...

Replication in Eukaryotes

Replication in Eukaryotes

Replication in Eukaryotes

Replication in Eukaryotes

In eukaryotic cells, DNA replication is highly conserved and tightly regulated. Multiple linear chromosomes must be duplicated with high fidelity before cell division, so there are many proteins that fulfill specialized roles in the replication process. Replication occurs in three phases: initiation, elongation, and termination, and ends with two complete sets of chromosomes in the nucleus.
Many Proteins Orchestrate Replication at the Origin
Eukaryotic replication follows many of the same...

Replicative Cell Senescence

Replicative Cell Senescence

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 the telomeric...

You might also read

Related Articles

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

Sort by

Same author

Structural Variation Interpretation in the Genome Sequencing Era: Lessons from Cytogenetics.

Clinical chemistry·2025

Same author

Monosomy X rescue explains discordant NIPT results and leads to uniparental isodisomy.

Prenatal diagnosis·2018

Same author

GNB3 overexpression causes obesity and metabolic syndrome.

PloS one·2017

Same author

Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.

American journal of medical genetics. Part A·2015

Same author

Human Structural Variation: Mechanisms of Chromosome Rearrangements.

Trends in genetics : TIG·2015

Same author

Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis.

Genome research·2015

Search research articles

Related Experiment Video

Updated: May 26, 2026

Modified Terminal Restriction Fragment Analysis for Quantifying Telomere Length Using In-gel Hybridization

Modified Terminal Restriction Fragment Analysis for Quantifying Telomere Length Using In-gel Hybridization

Published on: July 10, 2017

Structural variation in subtelomeres.

M Katharine Rudd¹

¹Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA. krudd@genetics.emory.edu

Methods in Molecular Biology (Clifton, N.J.)

|January 10, 2012

Summary

Subtelomeric regions at chromosome ends are dynamic, contributing to human genome diversity. Robust detection of subtelomeric copy number variation is crucial for diagnosing genetic disorders.

Area of Science:

Genomics
Human Genetics
Cytogenetics

Background:

Subtelomeres, located near telomere repeats, are dynamic genomic regions.
Subtelomeric variation plays a role in human polymorphism and rapid evolution.
Rearrangements in subtelomeres are linked to intellectual disabilities and birth defects.

Purpose of the Study:

To highlight the importance of robust methods for detecting subtelomeric copy number variation.
To discuss the evolution of detection methods in cytogenetics laboratories.

Main Methods:

Review of methods for detecting structural variation in subtelomeres.
Comparison of fluorescence in situ hybridization (FISH) and array-based technologies.

Main Results:

More Related Videos

Analyzing Telomeric Protein-DNA Interactions Using Single-Molecule Magnetic Tweezers

Analyzing Telomeric Protein-DNA Interactions Using Single-Molecule Magnetic Tweezers

Published on: August 30, 2024

Examination of the Telomere G-overhang Structure in Trypanosoma brucei

Examination of the Telomere G-overhang Structure in Trypanosoma brucei

Published on: January 26, 2011

Related Experiment Videos

Last Updated: May 26, 2026

Modified Terminal Restriction Fragment Analysis for Quantifying Telomere Length Using In-gel Hybridization

Modified Terminal Restriction Fragment Analysis for Quantifying Telomere Length Using In-gel Hybridization

Published on: July 10, 2017

Analyzing Telomeric Protein-DNA Interactions Using Single-Molecule Magnetic Tweezers

Analyzing Telomeric Protein-DNA Interactions Using Single-Molecule Magnetic Tweezers

Published on: August 30, 2024

Examination of the Telomere G-overhang Structure in Trypanosoma brucei

Examination of the Telomere G-overhang Structure in Trypanosoma brucei

Published on: January 26, 2011

Array technology has advanced subtelomere variation detection.
Fluorescence in situ hybridization (FISH) remains essential for confirming array-identified subtelomeric gains and losses.

Conclusions:

Accurate detection of subtelomeric copy number variation is critical for diagnosing genetic disorders.
A combination of array technology and FISH is necessary for comprehensive subtelomere analysis.