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Related Concept Videos

Cohesins02:20

Cohesins

Cohesin protein complexes are a molecular glue that holds two sister chromatids together. They play an important role both in mitosis and meiosis. In mitosis, all cohesin complexes present on the chromosomes are removed before the start of the anaphase stage.
Cohesin complexes in Meiotic Division
Meiosis involves two distinct rounds of chromosomal segregation and cell divisions— Meiosis I followed by Meiosis II – producing four daughter cells. Meiosis I includes the separation of homologous...
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.
Coat Assembly and GTPases01:33

Coat Assembly and GTPases

Vesicles incorporate different coat protein subunits in different cell locations, which changes the properties of the coat, such as the shape and geometry of the transport vesicles. Thus, vesicle coat proteins also play a significant role in cargo selection.
Coat assembly depends on the local availability of phosphatidylinositol phosphates or PIPs and GTP-binding proteins. Adaptor proteins, which link the coat proteins to the membrane, bind to these PIPs and play a crucial role in controlling...
Condensins02:15

Condensins

Condensins are large protein complexes that use ATP to fuel the assembly of chromosomes during mitosis. They transform the tangled, shapeless mass of post-interphase DNA into individualized chromosomes by compacting, organizing, and segregating chromosomal DNA.
The plant and animal cells contain two types of condensin complexes—condensin I and condensin II. Both complexes have five subunits: two SMC (Structural Maintenance of Chromosomes) subunits, a kleisin subunit, and two HEAT-repeat...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

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...

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Related Experiment Video

Updated: May 25, 2026

Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer
28:15

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Published on: July 28, 2010

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.

Beverley H Anderson1, Paul R Kasher, Josephine Mayer

  • 1Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, UK.

Nature Genetics
|January 24, 2012
PubMed
Summary
This summary is machine-generated.

Mutations in CTC1, a gene crucial for telomere maintenance, cause Coats plus, a disorder affecting multiple organs. This finding links telomere dysfunction to Coats plus, impacting DNA replication and telomeric integrity.

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

Area of Science:

  • Genetics and Molecular Biology
  • Cell Biology
  • Human Disease Genetics

Background:

  • Coats plus is a rare, multi-system disorder with significant impact on ocular, neurological, skeletal, and gastrointestinal systems.
  • The genetic basis and molecular mechanisms underlying Coats plus have remained largely elusive.
  • Telomere maintenance disorders, such as dyskeratosis congenita, share phenotypic similarities with Coats plus.

Purpose of the Study:

  • To identify the genetic cause of Coats plus.
  • To investigate the role of CTC1 in the pathogenesis of Coats plus.
  • To explore the relationship between CTC1, telomere maintenance, and DNA replication in Coats plus.

Main Methods:

  • Genetic mutation analysis in affected individuals.
  • Telomere length assessment in patient-derived cells and individuals.
  • Analysis of DNA damage markers (γH2AX) in cell lines.
  • Bioinformatic analysis of CTC1 function within protein complexes.

Main Results:

  • Mutations in CTC1 (conserved telomere maintenance component 1) were identified as the cause of Coats plus.
  • Individuals with Coats plus exhibited shortened telomeres.
  • Cell lines from Coats plus patients showed an increased presence of spontaneous γH2AX-positive cells, indicating DNA damage.
  • CTC1's role in the α-accessory factor (AAF) complex and its stimulation of DNA polymerase-α primase activity were highlighted.

Conclusions:

  • CTC1 mutations are causative for Coats plus, establishing a link between this disorder and telomere maintenance dysfunction.
  • Shortened telomeres and increased DNA damage are key molecular features of Coats plus.
  • CTC1 plays a critical role in DNA metabolism beyond telomeric integrity, potentially affecting DNA replication initiation.