Related Experiment Video
Updated: Apr 11, 2026
08:41
Author Spotlight: Deciphering the Role of ATM in Ataxia-Telangiectasia and the Associated Cerebellar Degeneration
Published on: December 27, 2024
2.1K
Ciliopathies and DNA damage: an emerging nexus
1aDepartments of Internal Medicine bEugene McDermott Center for Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Current Opinion in Nephrology and Hypertension
|June 8, 2015
Summary
Cilia and centrosome proteins are newly linked to DNA damage and repair pathways. This discovery offers new insights into the pathogenesis of cystic kidney diseases and related ciliopathies.
Area of Science:
- Molecular Biology
- Genetics
- Cell Biology
Background:
- Cilia and centrosomes are crucial in cystic kidney diseases.
- Recent research highlights their unexpected roles beyond typical functions.
Purpose of the Study:
- To review recent findings linking ciliary and centrosomal proteins to DNA damage and repair.
- To explore new perspectives on cystic kidney disease pathogenesis.
Main Methods:
- Literature review of recent publications.
- Analysis of established connections between cilia, centrosomes, and cell cycle.
- Examination of DNA damage and repair pathways.
Main Results:
- Several ciliopathy proteins are involved in DNA replication and repair pathways.
- Malfunction in these DNA processes may underlie certain ciliopathy-related diseases.
- Specific ciliopathy genes associated with DNA repair pathways are identified.
Conclusions:
- Cilia and centrosome proteins have a newly recognized role in DNA repair.
- This link provides a potential common mechanism for various ciliopathy-related diseases.
- Understanding these connections offers novel therapeutic avenues for cystic kidney diseases.
Related Concept Videos
02:36DNA Damage can Stall the Cell Cycle
10.4K
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...
10.4K
02:36DNA Damage Can Stall the Cell Cycle
3.4K
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...
3.4K
01:38Nucleotide Excision Repair
5.9K
DNA Distortion and Damage
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
5.9K
01:08Nucleotide Excision Repair
42.7K
Overview
42.7K
02:25Overview of DNA Repair
35.5K
In order to be passed through generations, genomic DNA must be undamaged and error-free. However, every day, DNA in a cell undergoes several thousand to a million damaging events by natural causes and external factors. Ionizing radiation such as UV rays, free radicals produced during cellular respiration, and hydrolytic damage from metabolic reactions can alter the structure of DNA. Damages caused include single-base alteration, base dimerization, chain breaks, and cross-linkage.
Chemically...
Chemically...
35.5K
02:25Overview of DNA Repair
10.5K
10.5K