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

Genetic Switches Play Big Role in Human Evolution

Published: Wednesday, June 12, 2013
Last Updated: Wednesday, June 12, 2013
Bookmark and Share
Study offers further proof that the divergence of humans from chimpanzees was profoundly influenced by mutations to DNA sequences.

The study, published June 9 in Nature Genetics, provides evidence for a 40-year-old hypothesis that regulation of genes must play an important role in evolution since there is little difference between humans and chimps in the proteins produced by genes. Indeed, human and chimpanzee proteins are more than 99 percent identical.

The researchers showed that the number of evolutionary adaptations to the part of the machinery that regulates genes, called transcription factor binding sites, may be roughly equal to adaptations to the genes themselves.

“This is the most comprehensive and most direct analysis to date of the evolution of gene regulatory sequences in humans,” said senior author Adam Siepel, Cornell associate professor of biological statistics and computational biology.

“It’s taken these 40 years to get a clear picture of what’s going on in these sequences because we haven’t had the data until very recently,” said Leonardo Arbiza, a postdoctoral researcher in Siepel’s lab and the paper’s lead author.

Less than 2 percent of the human genome – the complete set of genetic material – contains genes that code for proteins. In cells, these proteins are instrumental in biological pathways that affect an organism’s health, appearance and behavior.

Much less is known about the remaining 98 percent of the genome; however, in the 1960s, scientists recognized that some of the non-protein coding DNA regulates when and where genes are turned on and off and how much protein they produce. The regulatory machinery works when proteins called transcription factors bind to specific short sequences of DNA that flank the gene, called transcription factor binding sites, and by doing so, switch genes on and off.

Among the findings, the study reports that when compared with protein coding genes, binding site DNA shows close to three times as many “weakly deleterious mutations,” that is, mutations that may weaken or make an individual more susceptible to disease, but are generally not severe. Weakly deleterious mutations exist in low frequencies in a population and are eventually weeded out over time. These mutations are responsible for many inherited human diseases.

While genes generally tend to resist change, a mutation occasionally leads to a favorable trait and increases across a population; this is called positive selection. By contrast, “transcription factor binding sites show considerable amounts of positive selection,” said Arbiza, with evidence for adaptation in binding sites that regulate genes controlling blood cells, brain function and immunity, among others.

“The overall picture shows more evolutionary flexibility in the binding sites than in protein coding genes,” said Siepel. “This has important implications for how we think about human evolution and disease.”

This is the one of the first studies to combine recent data that identifies transcription factor binding sites, data on human genetic variation and genome comparisons between humans and apes. A new computational method called INSIGHT (Inference of Natural Selection from Interspersed Genomically coHerent elemenTs), designed by Ilan Gronau, a postdoctoral researcher in Siepel’s lab and a co-author of the study, allowed the scientists to integrate these diverse data types and find evidence of natural selection in the regulatory DNA.

“Transcription factor binding sites are probably the regulatory elements we know the most about,” said Arbiza. “If you want to understand evolution of gene expression regulation, that’s a good starting point.”

INSIGHT may now be used by other researchers for analyzing other short regulatory DNA sequences, such as micro-RNAs, non-coding molecules that also play a role in gene regulation.

The study was funded by the Packard Foundation, Alfred P. Sloan Foundation, National Science Foundation, National Institutes of Health, and a fellowship from the Cornell Center for Vertebrate Genomics.

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 5,200+ 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 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

C Dots Show Powerful Tumor Killing Effect
Nanoparticles known as Cornell dots, or C dots, have shown great promise as a therapeutic tool in the detection and treatment of cancer.
Friday, September 30, 2016
$1M NIH Grant to Refine PCR Based Cancer Test
Researchers at Cornell University, Weill Cornell Medicine, the University of California, San Francisco, and the Infectious Diseases Institute in Kampala, Uganda, recieve a four-year, $1 million grant to hone technology for a quick, in-the-field diagnosis of Kaposi's sarcoma — a cancer frequently related to HIV infections.
Friday, September 02, 2016
Vortex Ring Freezing Applications
Accidental lab discovery could aid cell delivery and cell-free protein production.
Monday, August 22, 2016
Measuring Chemistry on a Chip
Researchers developing chemical sensor chip for sample analysis in a lab or monitoring air and water quality in the field.
Thursday, August 18, 2016
Key to Chronic Fatigue Syndrome is in Your Gut, Not Head
Researchers report they have identified biological markers of the disease in gut bacteria and inflammatory microbial agents in the blood.
Wednesday, June 29, 2016
Pathogen Takes Control of Gypsy Moth Populations
A new fungal pathogen is killing gypsy moth caterpillars and crowding out communities of pathogens and parasites that previously destroyed these moth pests.
Tuesday, April 26, 2016
Eating Green Could be in Your Genes
Genetic variation uncovered that has evolved in populations that have historically favored vegetarian diets, such as in India, Africa and parts of East Asia.
Friday, April 01, 2016
$4.8M USAID Grant to Improve Food Security
To strengthen capacity to develop and disseminate genetically engineered eggplant in Bangladesh and the Philippines, the USAID has awarded Cornell a $4.8 million, three-year cooperative grant.
Friday, April 01, 2016
Proteins Seek, Attack, Destroy Tumor Cells in Bloodstream
Using white blood cells to ferry potent cancer-killing proteins through the bloodstream virtually eliminates metastatic prostate cancer in mice, Cornell researchers have confirmed.
Friday, January 15, 2016
Tumor-suppressing Gene Lends Insight to Cancer Treatment
Researchers have found that delicate replication process derails if a gene named PTEN has mutated or is absent.
Tuesday, July 14, 2015
Synthetic Immune Organ Produces Antibodies
Cornell engineers have created a functional, synthetic immune organ that produces antibodies and can be controlled in the lab, completely separate from a living organism.
Friday, June 12, 2015
On Planes, Savory Tomato Becomes Favored Flavor
Study shows the effect that airplane noise has on passengers' taste preferences.
Friday, May 15, 2015
$5.5M NSF Grant Aims to Improve Rice Crops with Genome Editing
Researchers to precisely target, cut, remove and replace DNA in a living cell to improve rice.
Friday, May 08, 2015
'Shield' Gives Tricky Proteins a New Identity
Solubilization of Integral Membrane Proteins with high Levels of Expression.
Saturday, April 11, 2015
DNA Safeguard May Be Key In Cancer Treatment
Cornell researchers have developed a new technique to understand the actions of key proteins required for cancer cells to proliferate.
Monday, March 09, 2015
Scientific News
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.
Editing Gene Mutations in Anemia
Researchers successfully use a new gene editing strategy to correct mutations that cause a form of anemia.
Genes Help Track Odd Migrations of Zika Mosquitoes
Study shows that mosquitoes carrying Zika virus or Dengue fever a genetically distinct around the world.
Nanomedicine Aims to Improve HIV Drug Therapies
New research aims to improve the administration and availability of drug therapies to HIV patients using nanotechnology.
Tumor Markers Reveal Lethality Of Bladder Cancers
Researchers found that detection of certain tumor cells in early stage cancers helps identify high-risk cancers.
Gene Editing Corrects Sickle Cell Mutation
Researchers demonstrate a potential pathway to developing gene-editing treatments for sickle cell disease.
Driving Mosquito Evolution to Fight Malaria
Researchers propose insect repellent in conjunction with insecticides to extend current insecticide lifetime.
Lab-on-a-Chip to Help Detect Cancer
In this podcast, we speak to Gustavo Stolovitsky to learn about his career and the work he is doing at IBM Research.
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
5,200+ scientific videos