Navigation Links
Wide range of differences, mostly unseen, among humans
Date:9/5/2013

No two human beings are the same. Although we all possess the same genes, our genetic code varies in many places. And since genes provide the blueprint for all proteins, these variants usually result in numerous differences in protein function. But what impact does this diversity have? Bioinformatics researchers at Rutgers University and the Technische Universitaet Muenchen (TUM) have investigated how protein function is affected by changes at the DNA level. Their findings bring new clarity to the wide range of variants, many of which disturb protein function but have no discernible health effect, and highlight especially the role of rare variants in differentiating individuals from their neighbors.

The slightest changes in human DNA can result in an incorrect amino acid being incorporated into a protein. In some cases, all it takes is for a single base to be substituted in a person's DNA, a variant known as a single nucleotide polymorphism (SNP). "Many of these point mutations have no impact on human health. However, of the roughly 10,000 'missense' SNPs in the human genome that is, SNPs affecting the protein sequence at least a fifth can change the function of the protein," explains Prof. Yana Bromberg of the Department of Biochemistry and Microbiology at Rutgers University. "And in some cases, the affected protein is so important and the change so large that we have to wonder why the person with this mutation is still healthy."

Furthermore, two unrelated individuals have thousands of different mutations that affect proteins. Previously, scientists did not fully understand how this large number of mutations affects the coding sequences of DNA. To investigate these "silent" mutations, Bromberg joined forces with Rutgers colleague Prof. Peter Kahn and Prof. Burkhard Rost at TUM.

Silent mutations more significant than previously thought

"We found that many of the mutations are anything but silent," declares Rost, head of the TUM Chair for Bioinformatics and a fellow of the TUM Institute for Advanced Study. The research indicates an extremely wide range of mutations. Many SNPs, for example, are neutral and do not affect protein function. Some, however, cause pathogenic disruption to protein functionality. "There is a gray area between these extremes," Rost explains. "Some proteins have a reduced biological function but are tolerated by the organism and therefore do not directly trigger any disease."

The research team analyzed over one million SNPs from a number of DNA databases. They used artificial learning methods to simulate the impact of DNA mutations on the function of proteins. This approach enabled them to investigate the impact of a large number of SNPs quickly and efficiently.

Insight into human evolution

The study's findings suggest that, with respect to diversity in protein function, the individual differences between two people are greater than previously assumed. "It seems that humans can live with many small changes in protein function," says Rost. One conclusion the researchers draw is that the wide functional spectrum of proteins must play a key role in evolution. In addition, Bromberg says, "Protein functional diversity may also hold the key to developing personalized medicine."


'/>"/>

Contact: Patrick Regan
patrick.regan@tum.de
49-016-242-79876
Technische Universitaet Muenchen
Source:Eurekalert

Related biology news :

1. How chewing gum or a shed hair can let strangers read your Book of Life
2. Immunohistochemistry effectively detects ALK rearrangement
3. Stem cell study could aid quest to combat range of diseases
4. Wireless, implanted sensor broadens range of brain research
5. Strange phallus-shaped creature provides crucial missing link
6. A European invader outcompetes Canadian plants even outside its usual temperature range
7. Wake Forest Innovations Launches New Dot-Com Companies Offering Industry and Business Easy Access to Broad Range of Scientific Services
8. March of the pathogens: Parasite metabolism can foretell disease ranges under climate change
9. FASEB SRC announces conference registration open for: Genetic Recombination & Genome Rearrangements
10. Climate change projected to alter Indiana bat maternity range
11. Study shows immunohistochemistry is reliable screening tool for ALK rearrangement
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/5/2017)... -- Today HYPR Corp. , leading innovator in ... the HYPR platform is officially FIDO® Certified . ... that empowers biometric authentication across Fortune 500 enterprises and ... 15 million users across the financial services industry, however ... suites and physical access represent a growing portion of ...
(Date:3/30/2017)... HONG KONG , March 30, 2017 ... developed a system for three-dimensional (3D) fingerprint identification by adopting ground ... technology into a new realm of speed and accuracy for use ... applications at an affordable cost. ... ...
(Date:3/24/2017)... The Controller General of Immigration from Maldives Mr. Mohamed Anwar ... the prestigious international IAIR Award for the most innovative high security ePassport ... ... Maldives Immigration Controller General, Mr. ... on the right) have received the IAIR award for the "Most innovative ...
Breaking Biology News(10 mins):
(Date:10/10/2017)... , ... October 10, 2017 , ... Dr. Bob Harman, ... his local San Diego Rotary Club. The event entitled “Stem Cells ... and had 300+ attendees. Dr. Harman, DVM, MPVM was joined by two human ...
(Date:10/10/2017)... PA (PRWEB) , ... October 10, 2017 , ... ... year’s recipients of 13 prestigious awards honoring scientists who have ... presented in a scheduled symposium during Pittcon 2018, the world’s leading conference and ...
(Date:10/9/2017)... ... October 09, 2017 , ... The Giving Tree Wellness Center ... the needs of consumers who are incorporating medical marijuana into their wellness and ... , As operators of two successful Valley dispensaries, The Giving Tree’s two founders, ...
(Date:10/7/2017)... 6, 2017  The 2017 Nobel Prize in ... Jacques Dubochet, Joachim Frank and ... cryo-electron microscopy (cryo-EM) have helped to broaden ... biology community. The winners worked with systems manufactured ... produce highly resolved, three-dimensional images of protein structures ...
Breaking Biology Technology: