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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.
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Protein Complex Assembly02:41

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Proteins can form homomeric complexes with another unit of the same protein or heteromeric complexes with different types.  Most protein complexes self-assemble spontaneously via ordered pathways, while some proteins need assembly factors that guide their proper assembly. Despite the crowded intracellular environment, proteins usually interact with their correct partners and form functional complexes.
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Protein Complexes with Interchangeable Parts01:57

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Groups of proteins may form a complex where each protein in this complex has a different role in the overall execution of the complex’s function. Often some of the proteins in the complex can be replaced by a closely related variant to give a complex that contains many of the same components yet is functionally distinct.
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Formation of Complex Ions03:45

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A type of Lewis acid-base chemistry involves the formation of a complex ion (or a coordination complex) comprising a central atom, typically a transition metal cation, surrounded by ions or molecules called ligands. These ligands can be neutral molecules like H2O or NH3, or ions such as CN− or OH−. Often, the ligands act as Lewis bases, donating a pair of electrons to the central atom. These types of Lewis acid-base reactions are examples of a broad subdiscipline called coordination...
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Complexation Equilibria: Factors Influencing Stability of Complexes01:09

Complexation Equilibria: Factors Influencing Stability of Complexes

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In complexation reactions, metal cations are the electron pair acceptors, and the ligands are the electron pair donors. The stability of the metal complexes depends primarily on the complexing ability of the central metal ion and the nature of the ligands. Generally, the complexing ability of the metal ion depends on the size and charge of the ion. As the metal ion size increases, the stability of the metal complexes decreases, provided that the valency of the metal ion and the ligands remain...
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Complex Power01:14

Complex Power

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Power engineers have introduced the concept of complex power to determine the cumulative effect of parallel loads. This idea plays a crucial role in power analysis because it encompasses all the details related to the power consumed by a specific load.
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Measuring Composition of CD95 Death-Inducing Signaling Complex and Processing of Procaspase-8 in this Complex
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Cohesin complex-associated holoprosencephaly.

Paul Kruszka1, Seth I Berger1, Valentina Casa2

  • 1Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Brain : a Journal of Neurology
|July 24, 2019
PubMed
Summary
This summary is machine-generated.

Holoprosencephaly, a common brain malformation, is linked to new X-linked cohesin gene variants (STAG2, SMC1A). This discovery highlights the cohesin complex

Keywords:
X-linked inheritancecohesin complexforebrain divisionholoprosencephaly

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Area of Science:

  • Genetics and Developmental Biology
  • Human Genetics
  • Molecular Biology

Background:

  • Holoprosencephaly (HPE) is a frequent congenital disorder caused by incomplete forebrain division.
  • Genetic factors underlie HPE, yet 80-90% of cases lack a genetic diagnosis.
  • The cohesin complex's role in HPE pathogenesis is not well understood.

Purpose of the Study:

  • To identify novel genetic causes of holoprosencephaly.
  • To investigate the role of cohesin complex genes in median forebrain development.
  • To explore X-linked inheritance patterns in HPE.

Main Methods:

  • Whole exome sequencing to identify genetic variants.
  • Whole mount in situ hybridization in mouse embryos.
  • shRNA knockdown in human neural stem cells.

Main Results:

  • Identified loss-of-function variants in X-linked cohesin genes STAG2 and SMC1A in 11 individuals with HPE.
  • Found variants in non-X-linked cohesin genes SMC3 and RAD21 in four individuals.
  • Demonstrated STAG2 and SMC1A expression in mouse prosencephalic neural folds.
  • Showed STAG2 and SMC1A knockdown alters expression of key HPE-associated genes in human neural stem cells.

Conclusions:

  • The cohesin complex is a critical regulator of median forebrain development.
  • Variants in STAG2 and SMC1A represent a significant cause of X-linked holoprosencephaly.
  • This study expands the genetic landscape of holoprosencephaly and implicates cohesin dysfunction in its etiology.