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Related Concept Videos

Microtubules in Signaling01:22

Microtubules in Signaling

The primary cilium, made up of microtubules, acts as antennae on the cell surfaces for relaying external stimuli into the cells. These fine hair-like structures are present, generally one per cell. These are non-motile cilia in a 9+0 microtubules arrangement, where the central pair of microtubules are absent. The primary cilia arise from the basal body embedded in the cell membrane. Intraflagellar transport (IFT) carries requisite proteins from the cytoplasm to the cilium because the primary...
Mechanism of Ciliary Motion01:05

Mechanism of Ciliary Motion

The ciliary structures were first seen in 1647 by Antonie Leeuwenhoek while observing the protozoans. In lower organisms, these appendages are responsible for cell movement, while in higher organisms, these appendages help in the movement of the extracellular fluids within the body cavities.
The cilia are made up of microtubules in a 9+2 arrangement, with nine microtubule doublet ring bundles, surrounding a pair of central singlet microtubule bundles. The doublet microtubule bundles are...
Cytoskeletal Coordination in Cell Migration01:32

Cytoskeletal Coordination in Cell Migration

A migrating cell changes its shape during the cyclic events of attachment and detachment from the substratum and repositions the cell organelles correspondingly. These complex events are orchestrated by the dynamic cytoskeletal network comprising actin filaments, intermediate filaments, and microtubules. Cytoskeletal crosstalk — the direct and indirect communication between the different components — is crucial for this coordination. Direct communication involves various linker proteins that...
Assembly of Complex Microtubule Structures01:32

Assembly of Complex Microtubule Structures

Complex microtubule structures are present in resting cells and in dividing cells. In resting cells, they are responsible for maintaining the cellular architecture, tracks for intracellular transport, positioning of organelles, assembly of cilia and flagella. They mediate the bipolar spindle assembly for chromosomal segregation and positioning of the cell division plate in dividing cells. The formation of microtubule complex structures depends on the cell type, cell stage, and cell function.
Cadherins in Tissue Organization01:19

Cadherins in Tissue Organization

The cadherins are a superfamily of cell adhesion molecules comprising over 180 variants, with specific tissues expressing a particular combination of cadherin types. Cadherins generally exhibit homophilic binding; i.e., cadherins on one cell bind to cadherins of the same or closely related type on another cell. Thus, cells of the same type have a specific affinity to bind to each other and sort themselves into clusters to form tissues.
Cell Sorting During Development
Cell sorting plays an...
Catenins01:23

Catenins

Catenins are characterized by multiple binding domains and dynamic structures that allow them to function as linker proteins in cell junction complexes. All catenins, except α-catenin, contain a characteristic protein sequence called the armadillo repeat and are therefore also called armadillo proteins.
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Related Experiment Video

Updated: Jun 2, 2026

Artificial Intelligence Approaches to Assessing Primary Cilia
08:58

Artificial Intelligence Approaches to Assessing Primary Cilia

Published on: May 1, 2021

Complex interactions between genes controlling trafficking in primary cilia.

Polloneal Jymmiel R Ocbina1, Jonathan T Eggenschwiler, Ivan Moskowitz

  • 1Developmental Biology Program, Sloan-Kettering Institute, New York, New York, USA.

Nature Genetics
|May 10, 2011
PubMed
Summary
This summary is machine-generated.

Genetic mutations in DYNC2H1 cause skeletal dysplasias by disrupting cilia function. Gene interactions reveal these disorders stem from altered cilia structure, not direct signaling defects.

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Last Updated: Jun 2, 2026

Artificial Intelligence Approaches to Assessing Primary Cilia
08:58

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Published on: May 1, 2021

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08:14

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Simple Detection of Primary Cilia by Immunofluorescence
08:07

Simple Detection of Primary Cilia by Immunofluorescence

Published on: May 15, 2020

Area of Science:

  • Cell Biology
  • Genetics
  • Developmental Biology

Background:

  • Cilia-associated human genetic disorders, or ciliopathies, exhibit diverse abnormalities and complex inheritance patterns.
  • Mutations in DYNC2H1, crucial for retrograde ciliary motor function, lead to skeletal dysplasias with variable expressivity.

Purpose of the Study:

  • To investigate the genetic relationships between DYNC2H1 and other genes involved in ciliary trafficking.
  • To elucidate the cellular mechanisms underlying DYNC2H1-related ciliopathies.

Main Methods:

  • Utilizing mouse models with mutations in Dync2h1.
  • Analyzing the effects of genetic interactions with Ift172 and Ift122 on ciliary structure and function.
  • Assessing Sonic hedgehog signaling pathway activity and developmental outcomes.

Main Results:

  • Dync2h1 mutations in mice disrupt cilia structure, impair Sonic hedgehog signaling, and cause mid-gestation lethality.
  • Heterozygous Ift172, involved in anterograde ciliary transport, suppressed Dync2h1-related phenotypes, including lethality.
  • Reduced dosage of Ift122, also involved in retrograde ciliary transport, similarly suppressed Dync2h1 phenotypes.

Conclusions:

  • Genetic interactions highlight the critical role of intraflagellar transport (IFT) genes in maintaining cilia architecture.
  • Phenotypes in DYNC2H1-related ciliopathies are primarily caused by disruptions in cilia structure, rather than direct impacts on signaling pathways.