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Related Concept Videos

Telomeres and Telomerase02:41

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 Telomerase02:41

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.
Replication in Eukaryotes02:31

Replication in Eukaryotes

Overview
Replication in Eukaryotes01:29

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...
Histone Variants at the Centromere02:30

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...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...

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Related Experiment Video

Updated: May 19, 2026

Analyzing Telomeric Protein-DNA Interactions Using Single-Molecule Magnetic Tweezers
11:21

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

Published on: August 30, 2024

Single-molecule variation in telomeric sequence and structure across humans.

Danilo Dubocanin1, Mitchell R Vollger2, Shane J Neph3

  • 1Department of Genetics, Stanford University, Palo Alto, CA, USA.

Biorxiv : the Preprint Server for Biology
|May 18, 2026
PubMed
Summary

Human chromosome ends have unique telomere variant repeat (TVR) codes that are heritable and stable. These codes reveal novel telomere lengthening mechanisms in the germline, impacting telomere cap formation.

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Modified Terminal Restriction Fragment Analysis for Quantifying Telomere Length Using In-gel Hybridization
11:29

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

Published on: July 10, 2017

Related Experiment Videos

Last Updated: May 19, 2026

Analyzing Telomeric Protein-DNA Interactions Using Single-Molecule Magnetic Tweezers
11:21

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

Published on: August 30, 2024

Modified Terminal Restriction Fragment Analysis for Quantifying Telomere Length Using In-gel Hybridization
11:29

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

Published on: July 10, 2017

Area of Science:

  • Genomics
  • Epigenetics
  • Human Genetics

Background:

  • Repetitive telomeric and subtelomeric regions pose challenges for studying genetic variation and chromatin organization.
  • Understanding chromosome end structure is crucial for human population genetics.

Purpose of the Study:

  • To create an atlas of telomere-spanning molecules to analyze genetic variation and chromatin organization at human chromosome ends.
  • To investigate the heritability, stability, and regulation of telomere variant repeat (TVR) codes.
  • To identify novel telomere lengthening mechanisms in the human germline.

Main Methods:

  • Integration of near-complete diploid genome assemblies from 212 individuals with long-read sequencing data.
  • Construction of an atlas of over 316,000 telomere-spanning molecules across 12,000 telomere arrays.
  • Single-molecule chromatin fiber sequencing to analyze chromatin structure at the telomere-subtelomere boundary.

Main Results:

  • Discovery of structured and unique telomere variant repeat (TVR) codes at nearly every human chromosome end.
  • Demonstration that subtelomere-proximal TVR codes are heritable, somatically stable, and influenced by TAR1 regulatory elements.
  • Identification of telomerase-independent telomere lengthening events, including interchromosomal telomere exchange and internal duplications.
  • Observation that TVR-rich regions exhibit telomeric chromatin with discontinuities.

Conclusions:

  • TVR codes represent a novel layer of genetic variation at human chromosome ends.
  • Proximal TVR codes are maintained across the human population, suggesting a role in genome stability.
  • The study reveals new insights into telomere maintenance and chromatin organization at chromosome ends.