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Related Concept Videos

Role of Septins01:02

Role of Septins

2.0K
Septins are the recently discovered fourth major protein component of the cytoskeleton, along with microfilaments, microtubules, and intermediate filaments. These proteins can associate with other cytoskeletal filaments and carry out varied roles or can be free-floating in the cytoplasm.
Cellular Functions of Septins
Recent studies have revealed the multifaceted roles of septins in various cellular processes such as cytokinesis, ciliogenesis, and neurogenesis. Septins act as scaffolds and...
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DNA Damage can Stall the Cell Cycle02:37

DNA Damage can Stall the Cell Cycle

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In response to DNA damage, cells can pause the cell cycle to assess and repair the breaks. However, the cell must check the DNA at certain critical stages during the cell cycle. If the cell cycle pauses before DNA replication, the cells will contain twice the amount of DNA. On the other hand, if cells arrest after DNA replication but before mitosis, they will contain four times the normal amount of DNA. With a host of specialized proteins at their disposal,cells must use the right protein at...
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Restarting Stalled Replication Forks02:37

Restarting Stalled Replication Forks

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DNA replication is initiated at sites containing predefined DNA sequences known as origins of replication. DNA is unwound at these sites by the minichromosome maintenance (MCM) helicase and other factors such as Cdc45 and the associated GINS complex.The unwound single strands are protected by replication protein A (RPA) until DNA polymerase starts synthesizing DNA at the 5’ end of the strand in the same direction as the replication fork. To prevent the replication fork from falling apart,...
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Septins01:19

Septins

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Septins are protein filaments forming the cytoskeleton along with the microtubules, microfilaments, intermediate filaments, and other accessory proteins. In 1971 while studying the cell division cycle in mutant Saccharomyces cerevisiae Harwell et al. first identified the septin-related genes playing a crucial role in yeast cytokinesis. Fluorescence microscopy revealed that these proteins localize at the budding neck as rings. These ring-like proteins were then named Septins by John Pringle, and...
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The Spindle Assembly Checkpoint02:19

The Spindle Assembly Checkpoint

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The spindle assembly checkpoint is a molecular surveillance mechanism ensuring the fidelity of chromosome segregation during anaphase. The checkpoint monitors the completion of all the prerequisite steps before chromosome segregation to determine whether the segregation process should proceed or be delayed.
Many proteins function together to control the spindle assembly checkpoint. Mutations affecting these proteins may allow cells to proceed into anaphase prematurely, resulting in the...
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Related Experiment Video

Updated: Nov 29, 2025

Medium-throughput Screening Assays for Assessment of Effects on Ca2+-Signaling and Acrosome Reaction in Human Sperm
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ACTN4 Mediates SEPT14 Mutation-Induced Sperm Head Defects.

Yu-Hua Lin1,2, Chia-Yen Huang3,4,5, Chih-Chun Ke6,7

  • 1Department of Chemistry, Fu Jen Catholic University, New Taipei City 242, Taiwan.

Biomedicines
|November 24, 2020
PubMed
Summary

Mutations in SEPT14 cause sperm head defects by disrupting ACTN4 and actin function during sperm development. This impacts male fertility by affecting sperm structure and formation.

Keywords:
ACTN4SEPT14male infertilityseptinteratozoospermia

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Area of Science:

  • Cell Biology
  • Molecular Biology
  • Reproductive Biology

Background:

  • Septins (SEPTs) are cytoskeletal GTP-binding proteins crucial for cellular processes.
  • SEPT14 mutations are linked to sperm head abnormalities, but the molecular mechanism is unclear.

Purpose of the Study:

  • To investigate the molecular pathological mechanism of SEPT14 mutation-induced sperm head defects.
  • To identify SEPT14 interactors and elucidate their role in sperm formation.

Main Methods:

  • Co-immunoprecipitation (co-IP) and mass spectrometry were used to identify SEPT14 interactors.
  • Immunostaining and co-localization studies were performed in male germ cells and sperm.
  • Cell models with mutated SEPT14 were analyzed.

Main Results:

  • SEPT14 was localized to the manchette structure in sperm.
  • ACTN4 was identified as a SEPT14 interactor, co-localizing in the sperm head.
  • SEPT14 mutations disrupted ACTN4 localization and actin function, leading to sperm head defects.

Conclusions:

  • SEPT14 interacts with ACTN4, a key protein in actin organization.
  • SEPT14 mutations impair sperm head formation by disrupting ACTN4 and actin dynamics.
  • Understanding this mechanism is vital for diagnosing and potentially treating male infertility associated with SEPT14 mutations.