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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...
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...
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...
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...
Histone Variants at the Centromere02:30

Histone Variants at the Centromere

Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3 variants are also...
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

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Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

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Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

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Clinical, <i>in vitro</i>, and <i>in vivo</i> evidence of <i>WAPL</i> as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

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Related Experiment Video

Updated: May 22, 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

RAD21 mutations cause a human cohesinopathy.

Matthew A Deardorff1, Jonathan J Wilde, Melanie Albrecht

  • 1Division of Genetics, The Children's Hospital of Philadelphia, PA 19104, USA. deardorff@email.chop.edu

American Journal of Human Genetics
|May 29, 2012
PubMed
Summary

Mutations in the RAD21 gene cause a cohesinopathy, a developmental disorder with growth and skeletal issues. These RAD21 mutations lead to milder cognitive impairment compared to other cohesinopathies like Cornelia de Lange syndrome.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Molecular Biology

Background:

  • The cohesin complex is crucial for cell division (mitosis and meiosis) and is linked to human developmental disorders.
  • Mutations in cohesin-related genes cause syndromes like Cornelia de Lange Syndrome (CdLS).

Purpose of the Study:

  • To investigate the role of mutations in the RAD21 gene, a core cohesin component, in human development.
  • To characterize the clinical and molecular phenotype associated with RAD21 mutations.

Main Methods:

  • Clinical evaluation of individuals with RAD21 mutations.
  • Functional studies in a zebrafish model to assess DNA damage response and transcription.
  • Analysis of mutation impact on protein interactions within the cohesin complex.

Main Results:

  • Human RAD21 mutations cause a cohesinopathy with growth retardation, skeletal anomalies, and facial features overlapping CdLS.
  • Individuals with RAD21 mutations exhibit milder cognitive impairment than those with classical CdLS.
  • Mutations impair DNA damage response and disrupt transcription, with dominant missense mutations causing more severe defects.

Conclusions:

  • RAD21 is essential for normal eukaryotic development.
  • RAD21 mutations define a distinct cohesinopathy with specific clinical features.
  • Understanding RAD21's role is key to deciphering cohesinopathies and human development.