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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.

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...

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...

Replication in Eukaryotes

Replication in Eukaryotes

Translesion DNA Polymerases

Translesion DNA Polymerases

Translesion (TLS) polymerases rescue stalled DNA polymerases at sites of damaged bases by replacing the replicative polymerase and installing a nucleotide across the damaged site. Doing so, TLS allows additional time for the cell to repair the damage before resuming regular DNA replication.
TLS polymerases are found in all three domains of life - archaea, bacteria, and eukaryotes. Of the different classes of TLS polymerases, members of the Y family are fitted with specialized structures that...

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Related Experiment Video

Updated: Jun 28, 2026

Utilizing Murine Inducible Telomerase Alleles in the Studies of Tissue Degeneration/Regeneration and Cancer

Utilizing Murine Inducible Telomerase Alleles in the Studies of Tissue Degeneration/Regeneration and Cancer

Published on: April 13, 2015

Telomerase dysfunction and dyskeratosis congenita.

Amanda J Walne¹, Inderjeet Dokal

¹Department of Haematology, Division of Investigative Science, Faculty of Medicine, Imperial College London, Hammersmith Hospital, Du Cane Road, London, W12 ONN, United Kingdom, a.walne@imperial.ac.uk.

|November 13, 2008

Summary

Dyskeratosis congenita (DC) is a rare genetic disorder affecting multiple systems, primarily bone marrow failure. Research suggests telomere maintenance dysfunction is key, linking DC to premature aging and cancer risk.

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Area of Science:

Genetics
Molecular Biology
Hematology

Background:

Dyskeratosis congenita (DC) is a multisystem disorder with mucocutaneous abnormalities and high cancer risk.
It presents significant clinical and genetic heterogeneity, with recognized X-linked, autosomal dominant, and autosomal recessive forms.
The underlying genetic causes for recessive DC remain largely unknown.

Purpose of the Study:

To elucidate the genetic basis and molecular mechanisms of Dyskeratosis congenita.
To understand the role of telomere maintenance in the pathogenesis of DC.
To highlight the connection between telomerase dysfunction and clinical manifestations like premature aging and malignancy.

Main Methods:

Review of existing literature on DC genetics and molecular pathways.
Analysis of genetic mutations associated with known forms of DC (X-linked, autosomal dominant).
Identification of candidate genes involved in telomere maintenance for recessive forms.

Main Results:

X-linked DC is linked to mutations in dyskerin, a component of telomerase.
Autosomal dominant DC is associated with mutations in TERC, the RNA component of telomerase.
All DC patients exhibit short telomeres, indicating telomere maintenance dysfunction as a central pathology.

Conclusions:

Dyskeratosis congenita pathogenesis is primarily linked to telomerase dysfunction.
Understanding DC highlights the critical role of telomerase in preventing premature aging and cancer.
Further research is needed to identify genes responsible for the recessive forms of DC.