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Related Concept Videos

Replicative Cell Senescence02:15

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...
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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

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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 Eukaryotes01:29

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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.
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Fixing Double-strand Breaks

The double-stranded structure of DNA has two major advantages. First, it serves as a safe repository of genetic information where one strand serves as the back-up in case the other strand is damaged. Second, the double-helical structure can be wrapped around proteins called histones to form nucleosomes, which can then be tightly wound to form chromosomes. This way, DNA chains up to 2 inches long can be contained within microscopic structures in a cell. A double-stranded break not only damages...

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Utilizing Murine Inducible Telomerase Alleles in the Studies of Tissue Degeneration/Regeneration and Cancer
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Telomere dysfunction in human bone marrow failure syndromes.

Ludmila Shtessel1, Shawn Ahmed

  • 1Department of Genetics, University of North Carolina, Chapel Hill, USA.

Nucleus (Austin, Tex.)
|June 8, 2011
PubMed
Summary

Telomerase activity is common in cancers and some stem cells, but its absence causes diseases linked to stem cell loss. This review explores telomere maintenance mechanisms in human diseases, focusing on SNM1B/Apollo

Keywords:
ApolloSNM1Bdyskeratosis congenitatelomerasetelomere

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Area of Science:

  • Molecular Biology
  • Genetics
  • Cell Biology

Background:

  • Telomerase, a ribonucleoprotein, is active in most human cancers and certain stem cells, but typically repressed in healthy somatic tissues.
  • Dysfunctional telomere maintenance is implicated in various human diseases, often linked to the loss of critical stem and progenitor cells.
  • Hereditary defects causing shortened telomeres manifest as bone marrow failure, pulmonary fibrosis, and other symptoms.

Purpose of the Study:

  • To review the mechanisms of telomere maintenance contributing to human diseases.
  • To elucidate the role of dysfunctional telomere homeostasis in disease pathology.
  • To discuss the specific involvement of SNM1B/Apollo nuclease in Hoyeraal-Hreidarsson syndrome.

Main Methods:

  • Literature review of studies on telomere maintenance, telomerase activity, and associated human diseases.
  • Analysis of genetic defects leading to telomere shortening and their clinical manifestations.
  • Focus on the molecular mechanisms involving SNM1B/Apollo in specific genetic disorders.

Main Results:

  • Telomerase expression is a hallmark of approximately 90% of human cancers.
  • Stem cells retain telomerase activity, crucial for tissue self-renewal.
  • Defects in telomere maintenance lead to stem cell depletion and severe pathologies.

Conclusions:

  • Telomere maintenance is critical for preventing human diseases associated with stem cell dysfunction.
  • SNM1B/Apollo nuclease plays a significant role in the pathology of Hoyeraal-Hreidarsson syndrome.
  • Understanding telomere homeostasis mechanisms is key to developing therapeutic strategies for related diseases.