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Related Concept Videos

Cohesins02:20

Cohesins

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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...
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Cohesins02:20

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Separation of Sister Chromatids02:17

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At the transition from prophase to metaphase, there is a reduction in cohesion along the chromosomal arms, resulting in the resolution of sister chromatids. However, residual cohesin connections remain to hold the sister chromatids together until the transition from metaphase to anaphase. The residual connection prevents any premature separation of sister chromatids, blocking the risks of aneuploidy within the daughter cells.
At the onset of anaphase, separase, a proteolytic enzyme, is...
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Polarity of the Cytoskeleton01:18

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The intrinsic polarity of cells can be primarily attributed to two factors- i) the asymmetric accumulation of mobile components such are regulatory molecules and subcellular components across the cell and ii) the orientation of polar cytoskeletal filaments that make up the cytoskeletal networks, specifically microfilaments, and microtubules arranged along the axis of polarity. Interactions between the cytoskeletal filaments are crucial for the establishment and maintenance of the polar nature...
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Crossing Over01:30

Crossing Over

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Crossing over is the exchange of genetic information between homologous chromosomes during prophase I of meiosis I. Genetic recombination gives rise to allelic diversity in the newly formed daughter cells. In humans, crossing over produces genetically distinct haploid egg and sperm cells that undergo fertilization to produce unique offspring. Before cell division starts, the germ cell’s chromosome(s) undergo duplication in the S phase of the cell cycle. As the cells enter prophase I,...
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Related Experiment Video

Updated: Apr 21, 2026

Using Fluorescence In Situ Hybridization FISH to Monitor the State of Arm Cohesion in Prometaphase and Metaphase I Drosophila Oocytes
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Cohesin embraces new phenotypes.

Ian D Krantz1

  • 1Division of Human Molecular Genetics, The Children's Hospital of Philadelphia and The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

Nature Genetics
|October 30, 2014
PubMed
Summary
This summary is machine-generated.

New research links mutations in the cohesin complex gene SGOL1 to Chronic Atrial and Intestinal Dysrhythmia (CAID) syndrome. This discovery highlights cohesin's role in heart and gut rhythm regulation, expanding the cohesinopathy disorder group.

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Area of Science:

  • Genetics
  • Cardiology
  • Gastroenterology

Background:

  • Cohesin is a protein complex crucial for chromosome segregation.
  • Disorders linked to cohesin dysfunction are known as cohesinopathies.
  • The precise role of cohesin in regulating intrinsic organ rhythm was not fully understood.

Purpose of the Study:

  • To identify the genetic basis of a newly described disorder characterized by atrial and intestinal dysrhythmia.
  • To investigate the involvement of the cohesin complex in cardiac and intestinal rhythm regulation.
  • To further characterize the spectrum of cohesinopathy disorders.

Main Methods:

  • Whole-exome sequencing was performed on affected individuals.
  • Segregation analysis was conducted to confirm the identified mutations.
  • Functional studies may be implied but are not explicitly stated in the abstract.

Main Results:

  • Homozygous missense mutations in the SGOL1 gene were identified in patients with the novel disorder.
  • SGOL1 encodes a component of the cohesin complex.
  • The identified mutations provide a direct link between cohesin dysfunction and the observed dysrhythmia.

Conclusions:

  • Mutations in SGOL1 are causative for Chronic Atrial and Intestinal Dysrhythmia (CAID) syndrome.
  • This study implicates the cohesin complex in the regulation of intrinsic cardiac and intestinal rhythm.
  • The findings expand the known clinical manifestations of cohesinopathies.