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Related Concept Videos

M-Cdk Drives Transition Into Mitosis02:15

M-Cdk Drives Transition Into Mitosis

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Checkpoints throughout the cell cycle serve as safeguards and gatekeepers, allowing the cell cycle to progress in favorable conditions and slow or halt it in problematic ones. This regulation is known as the cell cycle control system.
Cyclin-dependent kinases, or Cdks, work in concert with cyclins to control cell cycle transitions. M-Cdk, a complex of Cdk1 bound to M cyclin, is a well-known example of this coordinated control that drives the transition from the G2 to the M phase.
M cyclin...
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Analysis of Cardiomyocyte Development using Immunofluorescence in Embryonic Mouse Heart
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Cyclin-dependent kinase 13 is indispensable for normal mouse heart development.

Qazi Waheed-Ullah1, Anna Wilsdon1, Aseel Abbad1

  • 1School of Life Sciences, Faculty of Medicine and Health Sciences, University of Nottingham, Nottingham, UK.

Journal of Anatomy
|November 18, 2024
PubMed
Summary

Genetic variants in cyclin-dependent kinase 13 (CDK13) are linked to congenital heart disease (CHD). A mouse model shows Cdk13 loss-of-function causes severe heart defects, highlighting CDK13

Keywords:
Cdk13CHDcongenital heart diseasecongenital heart disorderscyclin‐dependant kinase 13high‐resolution episcopic microscopy

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Area of Science:

  • Developmental Biology
  • Genetics
  • Cardiovascular Research

Background:

  • Congenital heart disease (CHD) affects approximately 1% of newborns.
  • Genetic studies have identified variants in cyclin-dependent kinase 13 (CDK13) in individuals with syndromic CHD.
  • Pathogenic CDK13 variants cause a human disorder with intellectual disability, developmental delay, and a high incidence of CHD (35%).

Purpose of the Study:

  • To investigate the role of CDK13 in embryonic heart development.
  • To analyze a presumed loss-of-function Cdk13 mouse model (Cdk13tm1b) for its effects on heart development.

Main Methods:

  • Analysis of a Cdk13 loss-of-function transgenic mouse model (Cdk13tm1b).
  • X-gal staining to assess Cdk13 expression patterns during embryonic development.
  • RT-qPCR to quantify Cdk13 transcript levels in mutant and wild-type hearts.
  • High-resolution episcopic microscopy for detailed 3D morphological analysis of embryonic and postnatal hearts.

Main Results:

  • Homozygous Cdk13tm1b mutants exhibited embryonic lethality by E15.5.
  • Cdk13 expression was observed in developing heart regions from E10.5 onwards.
  • Both homozygous and heterozygous Cdk13tm1b mutants displayed a spectrum of CHDs, including ventricular septal defects, bicuspid aortic valve, double outlet right ventricle, and atrioventricular septal defects.
  • 100% of homozygous hearts and 17.02% of heterozygous hearts showed CHD.
  • Differential gene expression was noted in homozygous mutants for key heart development genes.

Conclusions:

  • Reduced CDK13 function in mice leads to a range of congenital heart defects.
  • The observed heart defects in the mouse model are consistent with the human CDK13-related disorder phenotype.
  • This study provides crucial insights into the role of CDK13 in heart development and its contribution to CHD.