Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

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...
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...
Cytoskeletal Accessory Proteins01:13

Cytoskeletal Accessory Proteins

The cytoskeleton is an essential cell component that plays several structural and functional roles. However, the filaments that make up the cytoskeleton cannot function independently and depend on the accessory or ancillary proteins to effectively carry out their function. Accessory proteins associate with cytoskeletal filaments and their monomers, aiding filament formation and function. They also help in the cross-communication among cytoskeletal filaments. Cytoskeletal accessory proteins are...
The Contractile Ring02:15

The Contractile Ring

Contractile rings are composed of microfilaments and are responsible for separating the daughter cells during cytokinesis. Contractile ring assembly proceeds along with other cell cycle events; however, very few mechanistic details are known about the timing and coordination of the contractile rings with the cell cycle.
A small GTPase, RhoA, controls the function and assembly of the contractile ring. RhoA belongs to the Ras superfamily of proteins. The activation of formins by RhoA promotes...
The Contractile Ring02:15

The Contractile Ring

Contractile rings are composed of microfilaments and are responsible for separating the daughter cells during cytokinesis. Contractile ring assembly proceeds along with other cell cycle events; however, very few mechanistic details are known about the timing and coordination of the contractile rings with the cell cycle.
A small GTPase, RhoA, controls the function and assembly of the contractile ring. RhoA belongs to the Ras superfamily of proteins. The activation of formins by RhoA promotes...
Separation of Sister Chromatids02:17

Separation of Sister Chromatids

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...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Nucleolar Dynamics During Oogenesis.

bioRxiv : the preprint server for biology·2026
Same author

A complete human pancreatic cancer genome.

bioRxiv : the preprint server for biology·2026
Same author

Haplotype-resolved centromeric chromatin organization from a complete diploid human genome.

bioRxiv : the preprint server for biology·2026
Same author

A Complete Genome for the Common Marmoset.

bioRxiv : the preprint server for biology·2026
Same author

Multicellular origins of murine ovarian inflammaging.

Communications biology·2026
Same author

Origin and evolution of acrocentric chromosomes in human and great apes.

bioRxiv : the preprint server for biology·2026

Related Experiment Video

Updated: Jul 1, 2026

Observing Mitotic Division and Dynamics in a Live Zebrafish Embryo
10:10

Observing Mitotic Division and Dynamics in a Live Zebrafish Embryo

Published on: July 15, 2016

Cohesinopathies: One ring, many obligations.

Adrian J McNairn1, Jennifer L Gerton

  • 1Stowers Institute for Medical Research, Kansas City, MO 64110, USA.

Mutation Research
|September 13, 2008
PubMed
Summary

Genetic disorders Cornelia de Lange syndrome (CdLS) and Roberts syndrome (RBS) are now classified as cohesinopathies. Mutations in cohesin pathway genes like NIPBL and ESCO2 cause these conditions, offering new avenues for research.

Area of Science:

  • Human Genetics
  • Molecular Biology
  • Cell Biology

Background:

  • Cornelia de Lange syndrome (CdLS) and Roberts syndrome (RBS)/SC Phocomelia (SC) are genetic disorders initially described over 75 years ago.
  • Recent genetic studies link these disorders to the cohesin pathway, essential for chromosome segregation.

Purpose of the Study:

  • To reclassify CdLS and RBS/SC Phocomelia as cohesinopathies based on genetic findings.
  • To highlight the role of cohesin pathway genes in these developmental disorders.

Main Methods:

  • Genetic analysis of patients with CdLS, RBS, and SC Phocomelia.
  • Identification of causative genes within the cohesin pathway.

Main Results:

  • Over 60% of CdLS cases involve de novo mutations in SCC2/NIPBL, SMC1, or SMC3.

More Related Videos

Using Fluorescence In Situ Hybridization (FISH) to Monitor the State of Arm Cohesion in Prometaphase and Metaphase I Drosophila Oocytes
12:46

Using Fluorescence In Situ Hybridization (FISH) to Monitor the State of Arm Cohesion in Prometaphase and Metaphase I Drosophila Oocytes

Published on: December 6, 2017

Spatiotemporal Analysis of Cytokinetic Events in Fission Yeast
11:19

Spatiotemporal Analysis of Cytokinetic Events in Fission Yeast

Published on: February 20, 2017

Related Experiment Videos

Last Updated: Jul 1, 2026

Observing Mitotic Division and Dynamics in a Live Zebrafish Embryo
10:10

Observing Mitotic Division and Dynamics in a Live Zebrafish Embryo

Published on: July 15, 2016

Using Fluorescence In Situ Hybridization (FISH) to Monitor the State of Arm Cohesion in Prometaphase and Metaphase I Drosophila Oocytes
12:46

Using Fluorescence In Situ Hybridization (FISH) to Monitor the State of Arm Cohesion in Prometaphase and Metaphase I Drosophila Oocytes

Published on: December 6, 2017

Spatiotemporal Analysis of Cytokinetic Events in Fission Yeast
11:19

Spatiotemporal Analysis of Cytokinetic Events in Fission Yeast

Published on: February 20, 2017

  • The gene ESCO2 has been identified as causative for Roberts syndrome and SC Phocomelia.
  • These disorders represent a new class: cohesinopathies.

    • Conclusions:

    • CdLS and RBS/SC Phocomelia are cohesinopathies resulting from defects in the cohesin complex.
    • Modern genetic, biochemical, and cell biological approaches can elucidate the mechanisms underlying these disorders.