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

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 4,000+ scientific posters on ePosters
  • More Than 5,300+ 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

Cancer Cells 'Talk' to their Environment, and it Talks Back
Scientists from Cornell University have developed a novel microscopy technique to measure the force breast cancer cells exert on their surroundings.
Wednesday, November 23, 2016
Wicked Weeds May Be Agricultural Angels
Agricutural scientists suggest less control over nature, as weeds can be beneficial to agriculture.
Wednesday, November 16, 2016
Bad Mitochondrial DNA May Increase Risk of Autism in Kids
Researchers have confired a genetic link between mtDNA and certain forms of autism spectrum disorder.
Tuesday, November 01, 2016
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
Scientific News
Big Genetics in BC: The American Society for Human Genetics 2016 Meeting
Themes at this year's meeting ranged from the verification, validation, and sharing of data, to the translation of laboratory findings into actionable clinical results.
Stem Cells in Drug Discovery
Potential Source of Unlimited Human Test Cells, but Roadblocks Remain.
Automated Low Volume Dispensing Trends
Gain a better understanding of the current and future market requirements for fully automated LVD systems.
Cancer Genetics: Key to Diagnosis, Therapy
When applied judiciously, cancer genetics directs caregivers to the right drug at the right time, while sparing patients of unnecessary or harmful treatments.
Unique Visual Stimulation May Be New Treatment for Alzheimer’s
Noninvasive technique reduces beta amyloid plaques in mouse models of Alzheimer’s disease.
Major Neuroscience Initiative Launched
Tianqiao and Chrissy Chen Institute invest $115 million to further expand neuroscience research, while Caltech construct $200 million biosciences complex.
Making It Personal
Cancer vaccine linked to increased immune response against leukemia cells.
Genetics Control Regenerative Properties Of Stem Cells
Researchers define how genetic factors control regenerative properties of blood-forming stem cells.
Diabetes Missing Link Discovered
Researchers from the University of Auckland have shown that beta catenin plays a vital role in the control of insulin release from the pancreas.
Study Reveals New Role for Hippo Pathway in Suppressing Cancer Immunity
Hippo pathway signaling regulates organ size by moderating cell growth, apoptosis and stem cell renewal, but dysregulation contributes to cancer development.
Scroll Up
Scroll Down
Skyscraper Banner

SELECTBIO Market Reports
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
4,000+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
5,300+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FOR FREE!