Corporate Banner
Satellite Banner
Scientific Communities
Become a Member | Sign in
Home>News>This Article

NIH Study Reveals Gene Critical to the Early Development of Cilia

Published: Thursday, July 03, 2014
Last Updated: Thursday, July 03, 2014
Bookmark and Share
Cilia are key to a broad class of genetic disorders.

Researchers at the National Eye Institute (NEI) have described the functions of a gene responsible for anchoring cilia - sensory hair-like extensions present on almost every cell of the body. They show in a mouse model that without the gene Cc2d2a, cilia throughout the body failed to grow, and the mice died during the embryonic stage.

The finding adds to an expanding body of knowledge about ciliopathies, a class of genetic disorders that result from defects in the structure or function of cilia. NEI is part of the National Institutes of Health.

The findings are published in the online journal Nature Communications. Senior author Anand Swaroop, Ph.D., is chief of the NEI laboratory of Neurobiology-Neurodegeneration and Repair. Lead author Shobi Veleri, Ph.D., is a research fellow in the laboratory.

Cilia are responsible for cell communication and play a key role in the receptor cells of sensory systems. For example, they are essential for odor detection in the nose and light reception in the eye. Because cilia are such a key element of cells, defects in genes that are involved in cilia development or function can cause complicated syndromes involving multiple organs and tissues.

Bardet-Biedl and Joubert syndromes are examples of ciliopathies with symptoms that include deafness, kidney disease, and degeneration of the retina. Meckel syndrome is a ciliopathy so dangerous babies with the genetic defect rarely make it to term.

On individual cells, cilia grow from the basal body, a circular dent on the outer membrane acting as a platform. Supporting structures called distal and subdistal appendages, which are like the flying buttresses supporting Notre Dame Cathedral, anchor the platform in the basal body, priming it for the growth of cilia.

Once anchored, the structures that form the cilium begin to extend from the site. Inside are a variety of proteins essential to maintain the cilium. Cc2d2a is believed to make a structural protein needed for cilia growth, but its precise functions have been unclear.

Researchers developed a mouse lacking Cc2d2a to investigate the gene.

When they looked at the tissues of the mutant mice in very early stages of development, researchers found very few to no cilia, suggesting the gene plays a critical role at an early time. Looking closely at where the cilia should exist, the researchers saw that the supporting structures needed for cilia to grow were either completely missing or abnormal.

In other experiments, the researchers found that the absence of Cc2d2a affected the activity of other genes and proteins involved in mouse nervous system development, including the key signaling protein, sonic hedgehog.

"This gene appears to play a key role in building structural support for the development of the cilia. Without this support, cilia are prevented from anchoring in the cell," said Dr. Swaroop. "It's like trying to build a house without a foundation. It's a big structural defect."

Studying the function and structure of cilia has become an active field of research that touches on many different organs and biological systems. More than 50 genes, including Cc2d2a have been discovered that, when defective, can lead to abnormal cilia development and ciliopathy in humans.

By continuing to study how these genes work and interact, Dr. Swaroop said he hopes to gain further insight into not just how defects in genes related to cilia development in the retina cause vision problems, but the wider impact of these defects across body system and organs.

Further Information

Join For Free

Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 3,500+ scientific posters on ePosters
  • More Than 5,100+ scientific videos on LabTube
  • 35 community eNewsletters

Sign In

Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.

Related Content

Structure of Primary Cannabinoid Receptor is Revealed
The findings provide key insights into how natural and synthetic cannabinoids including tetrahydrocannabinol —a primary chemical in marijuana—bind at the CB1 receptor to produce their effects.
Friday, October 21, 2016
NIH Study Determines Key Differences between Allergic and Non-Allergic Dust Mite Proteins
Researchers at NIH have uncovered factors that lead to the development of dust mite allergy and assist in the design of better allergy therapies.
Thursday, October 20, 2016
NIH Contributes to Global Effort to Prevent and Manage Lung Diseases
The large scale trial will measure health benefits of clean cookstoves.
Thursday, October 20, 2016
Untangling Cause Of Memory Loss In Neurodegenerative Diseases
NIH-funded mouse study identifies a possible therapeutic target for a family of disorders.
Tuesday, October 18, 2016
NIH Scientists Uncover Genetic Explanation for Frustrating Syndrome
Researchers at NIH have suggested that the multiple alpha tryptase gene copies might underlie health issues that affect a substantial number of people.
Tuesday, October 18, 2016
Scientists at NIH and Emory Achieve Sustained SIV Remission in Monkeys
The finding suggest that the immune systems of these animals are controlling SIV replication in the absence of antiretroviral therapy.
Friday, October 14, 2016
Untangling a Cause of Memory Loss in Neurodegenerative Diseases
The mouse study identifies a possible therapeutic target for a family of disorders.
Thursday, October 13, 2016
Visual Cortex Plays Role in Plasticity of Eye Movement Reflex
Researchers at NIH have found that the visual cortex region of the brain known to process sensory information plays a vital role in promoting the plasticity of innate, spontaneous eye movements.
Thursday, October 13, 2016
NIH Commits $6.7 M to Advance DNA, RNA Sequencing Technology
"Can you believe they make DNA sequencers the size of staplers?" asked Meni Wanunu, Ph.D. "Ideas that were crazy twenty years ago are now happening!"
Friday, October 07, 2016
Cone Snail Venom Reveals Insulin Insights
Researchers found that a fast-acting insulin from the cone snail can bind and activate the human insulin receptor.
Wednesday, October 05, 2016
DNA Vaccines Protect Monkeys Against Zika Virus
Two experimental Zika virus DNA vaccines developed by NIH scientists protected monkeys against Zika infection.
Wednesday, October 05, 2016
Targeting Cardiovascular Disease Risk Factors May be Important Across a Lifetime
The study suggests efforts to prevent risk factors should extend to those older than 65.
Tuesday, October 04, 2016
Researchers Find a Gap in the Brain’s Firewall Against Parkinson’s Disease
Researchers at NIH have found mouse study that identified a key player in the progression of the disorder.
Saturday, October 01, 2016
Drug to Treat Alcohol Use Disorder Shows Promise Among Drinkers With High Stress
The findings suggest that potential future studies with drugs targeting vasopressin blockade should focus on populations of people with AUD who also report high levels of stress.
Friday, September 30, 2016
Monkeys Protected by Zika DNA Vaccine
Experimental Zika virus DNA vaccines successfully protected monkeys against Zika infection.
Thursday, September 29, 2016
Scientific News
Integrated Omics Analysis
Studying multi-omics promises to give a more holistic picture of the organism and its place in its ecosystem, however despite the complexities involved those within the field are optimistic.
Unravelling the Role of Key Genes and DNA Methylation in Blood Cell Malignancies
Researchers from the University of Nebraska Medical Center have demonstrated the role of Dnmt3a in safeguarding normal haematopoiesis.
Salford Lung Study - The First Real World Clinical Trial
In this podcast, we learn about the Salford Lung Study and its potential to revolutionize the way we assess new drugs and treatments around the world.
Point of Care Diagnostics - A Cautious Revolution
Advances in molecular biology, coupled with the miniaturization and improved sensitivity of assays and devices in general, have enabled a new wave of point-of-care (POC) or “bedside” diagnostics.
Mass Spec Technology Drives Innovation Across the Biopharma Workflow
With greater resolving power, analytical speed, and accuracy, new mass spectrometry technology and techniques are infiltrating the biopharmaceuticals workflow.
Structure of Primary Cannabinoid Receptor is Revealed
The findings provide key insights into how natural and synthetic cannabinoids including tetrahydrocannabinol —a primary chemical in marijuana—bind at the CB1 receptor to produce their effects.
Illumina Contributes to ClinVar Database
The contribution includes variants of all classifications, from pathogenic to benign, identified during interpretation of whole genome sequences generated in the CLIA-certified, CAP-accredited Illumina Clinical Services Laboratory.
Overlooked Molecules Could Revolutionise our Understanding of the Immune System
Researchers have discovered that around one third of all the epitopes displayed for scanning by the immune system are a type known as ‘spliced’ epitopes.
Study Finds Key Regulator in Pulmonary Fibrosis
Researchers identify an enzyme that could open the way to therpies for chronic fatal lung disease.
Signaling Pathway Could Be Key to Improved Osteoporosis Treatment
Inhibition of SIK2 enzyme both stimulates bone formation and reduces bone breakdown in animal model.
Scroll Up
Scroll Down
Skyscraper Banner

Skyscraper Banner
Go to LabTube
Go to eposters
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
3,500+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
5,100+ scientific videos