" "
Satellite Banner
Genomics
Scientific Community
 
Become a Member | Sign in
Home>News>This Article
  News
Return

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 2,900+ scientific posters on ePosters
  • More than 4,200+ 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 TechnologyNetworks.com 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

Tick Genome Reveals Secrets of a Successful Bloodsucker
NIH-funded study could lead to new tick control methods.
Tuesday, February 09, 2016
Genomic Signature Shared by Five Types of Cancer
National Institutes of Health researchers have identified a striking signature in tumor DNA that occurs in five different types of cancer.
Monday, February 08, 2016
Cancer Drug Target Visualized at Atomic Resolution
New study using cryo-electron microscopy shows how potential drugs could inhibit cancer.
Thursday, February 04, 2016
Genome-Wide Study Yields Markers of Lithium Response
An international consortium of scientists has identified a stretch of chromosome that is associated with responsiveness to the mood-stabilizing medication lithium among patients with bipolar disorder.
Monday, February 01, 2016
Schizophrenia’s Strongest Known Genetic Risk Deconstructed
Suspect gene may trigger runaway synaptic pruning during adolescence – NIH-funded study.
Thursday, January 28, 2016
NIH Genome Sequencing Program Targets the Genomic Bases of Common, Rare Disease
The National Institutes of Health will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
Friday, January 15, 2016
Three Glaucoma-Related Genes Discovered
NIH-funded genetics analysis of glaucoma is largest to date.
Tuesday, January 12, 2016
International Study Reveals New Genetic Clues to AMD
NIH-funded research provides framework for future studies of AMD biology, therapy.
Tuesday, December 22, 2015
Dementia Linked to Deficient DNA Repair
Mutant forms of breast cancer factor 1 (BRCA1) are associated with breast and ovarian cancers but according to new findings, in the brain the normal BRCA1 gene product may also be linked to Alzheimer’s disease.
Tuesday, December 01, 2015
Batten Disease may Benefit from Gene Therapy
NIH-funded animal study suggests one-shot approach to injecting genes.
Friday, November 13, 2015
NIH Researchers Link Single Gene Variation to Obesity
Variation in the BDNF gene may affect brain’s regulation of appetite, study suggests.
Saturday, October 31, 2015
Researchers Identify Potential Alternative to CRISPR-Cas Genome Editing Tools
New Cas enzymes shed light on evolution of CRISPR-Cas systems.
Saturday, October 31, 2015
Potential Alternative to CRISPR-Cas Genome Editing Tools
New Cas enzymes shed light on evolution of CRISPR-Cas systems.
Friday, October 23, 2015
Charting Genetic Variation Across the Globe
An international team of scientists has created the world’s largest catalog of human genetic differences in populations around the globe.
Tuesday, October 20, 2015
Gene Therapy Staves Off Blindness from Retinitis Pigmentosa in Canine Model
NIH-funded study suggests therapeutic window may extend to later-stage disease.
Tuesday, October 20, 2015
Scientific News
Common Cell Transformed into Master Heart Cell
By genetically reprogramming the most common type of cell in mammalian connective tissue, researchers at the University of Wisconsin—Madison have generated master heart cells — primitive progenitors that form the developing heart.
Genetic Mutation that Prevents Diabetes Complications
The most significant complications of diabetes include diabetic retinal disease, or retinopathy, and diabetic kidney disease, or nephropathy. Both involve damaged capillaries.
Could the Food we Eat Affect Our Genes?
Almost all of our genes may be influenced by the food we eat, according to new research.
Neanderthal DNA Influences Human Disease Risk
Large-scale, evolutionary analysis compares genetic data alongside electronic health records.
Improving Regenerative Medicine
Lab-created stem cells may lack key characteristics, UCLA research finds.
Tick Genome Reveals Secrets of a Successful Bloodsucker
NIH has announced that decipher the genome of the blacklegged tick which could lead to new tick control methods.
"Dark Side" of the Transcriptome
New approach to quantifying gene "read-outs" reveals important variations in protein synthesis and has implications for understanding neurodegenerative diseases.
Individuals' Medical Histories Predicted by their Noncoding Genomes
Researchers have found that analyzing mutations in regions of the genome that control genes can predict medical conditions such as hypertension, narcolepsy and heart problems.
New Source of Mutations in Cancer
Recently, a new mutation signature found in cancer cells was suspected to have been created by a family of enzymes found in human cells called the APOBEC3 family.
Advancing Synthetic Biology
Living systems rely on a dizzying variety of chemical reactions essential to development and survival. Most of these involve a specialized class of protein molecules — the enzymes.
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
2,900+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
4,200+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FOR FREE!