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

New Method Helps Link Genomic Variation to Protein Production

Published: Friday, November 09, 2012
Last Updated: Friday, November 09, 2012
Bookmark and Share
Research presented at American Society of Human Genetics 2012.

Scientists have adopted a novel laboratory approach for determining the effect of genetic variation on the efficiency of the biological process that translates a gene’s DNA sequence into a protein, such as hemoglobin, according to a presentation at the American Society of Human Genetics 2012 meeting in San Francisco.

In the 0.1% of the DNA that differs between any two individuals, scientists search for the biological mechanisms underlying human genetic differences, including disease susceptibility.

”How exactly these slight changes in the DNA affect the biology of the human body is not known in most cases,” said Constantin Polychronakos, M.D., professor of pediatrics, experimental medicine and human genetics at McGill University, Montreal, Canada.

“We decided to investigate the possibility that some of these changes may alter the translation of RNA into protein, a question that had not been systematically examined before,” he added.

Translation is the final stage of gene expression at which the gene’s DNA recipe for a protein can be modified, said McGill University scientist Quan Li, Ph.D., who presented the research.

In general, genomic studies have focused on finding links between diseases and variation in DNA. However, the new study takes a big step toward understanding how that variation affects the production of proteins, which are the molecules that most directly affect health and disease.

The study was designed to determine the effect of single-nucleotide polymorphisms (SNPs), which are variations in the DNA sequence, on the process of translation, Dr. Li said.

Translation begins when a gene’s DNA sequence is transcribed into the messenger RNA (mRNA) molecule that carries the transcript, or the blueprint for the protein encoded by the gene, to ribosomes, where proteins are manufactured in a cell.

Dr. Li and his colleagues developed a novel and scalable method that uses the binding of mRNAs to ribosomes as a proxy for translational efficiency of mRNAs that differ from one another because of SNPs.

“Because efficiently translated transcripts associate with multiple ribosomes while less active ones with fewer or no ribosomes, we hypothesized that functional transcripts would show a detectable shift in this distribution,” said Dr. Li.

Huiqi Qu, Ph.D., co-investigator of this study and assistant professor at the University of Texas School of Public Health, Brownsville, said, “The results of the proof-of-principle pilot study have clearly shown translational differences between mRNAs that differ only slightly from one another can be detected at a transcriptome-wide scale.” The transcriptome refers to the multiple types of RNAs that function in a cell.

“This study may represent the ‘tip of the iceberg,’ and its application to larger sample sizes will facilitate a shift toward functional genomics,” said Dr. Polychronakos. “Functional genomics tells us how genetic variation affects disease and points more directly toward possible therapies.”

“It will add an important tool in the evaluation of genetic loci associated with complex disorders,” Dr. Polychronakos added.

The researchers’ presentation is titled, “Translational cis-regulation of gene expression in the human genome: the effect of human single nucleotide polymorphisms.”

Further Information
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 2,800+ scientific posters on ePosters
  • More Than 4,000+ 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

ASHG, The Jackson Laboratory Launch Educational Collaboration
New programs aim to integrate genetics and genomics into medicine.
Friday, June 13, 2014
DNA Variants Explain Over 10% of Inherited Genetic Risk for Heart Disease
About 10.6% of the inherited genetic risk for developing coronary artery disease (CAD) can be explained by specific DNA variations.
Monday, November 12, 2012
Exome Sequencing: Potential Diagnostic Assay for Unexplained Intellectual Disability
Research findings confirming that de novo mutations represent a major cause of previously unexplained intellectual disability were presented at the American Society of Human Genetics 2012 meeting.
Monday, November 12, 2012
Scientific News
High Throughput Mass Spectrometry-Based Screening Assay Trends
Dr John Comley provides an insight into HT MS-based screening with a focus on future user requirements and preferences.
The MaxSignal Colistin ELISA Test Kit from Bioo Scientific
Kit can help prevent the antibiotic apocalypse by keeping last resort drugs out of the food supply.
"Good" Mozzie Virus Might Hold Key to Fighting Human Disease
Australian scientists have discovered a new virus carried by one of the country’s most common pest mosquitoes.
Non-Disease Proteins Kill Brain Cells
Scientists at the forefront of cutting-edge research into neurodegenerative diseases such as Alzheimer’s and Parkinson’s have shown that the mere presence of protein aggregates may be as important as their form and identity in inducing cell death in brain tissue.
Closing the Loop on an HIV Escape Mechanism
Research team finds that protein motions regulate virus infectivity.
New Class of RNA Tumor Suppressors Identified
Two short, “housekeeping” RNA molecules block cancer growth by binding to an important cancer-associated protein called KRAS. More than a quarter of all human cancers are missing these RNAs.
Potential Treatment for Life-Threatening Viral Infections Revealed
The findings point to new therapies for Dengue, West Nile and Ebola.
World’s First Therapeutic Venom Database
Open-source library describes nearly 43,000 effects on the human body.
Biologists Induce Flatworms to Grow Heads and Brains of Other Species
Findings shed light on role of a new kind of epigenetic signaling in evolution, could yield clues for understanding birth defects and regeneration.
Fat Cells Originating from Bone Marrow Found in Humans
Cells could contribute to diabetes, heart disease.
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
2,800+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
4,000+ scientific videos