Navigation Links
Scientists find a fingerprint of evolution across the human genome

The Human Genome Project revealed that only a small fraction of the 3 billion letter DNA code actually instructs cells to manufacture proteins, the workhorses of most life processes. This has raised the question of what the remaining part of the human genome does. How much of the rest performs other biological functions, and how much is merely residue of prior genetic events"

Scientists from Cold Spring Harbor Laboratory (CSHL) and the University of Chicago now report that one of the steps in turning genetic information into proteins leaves genetic fingerprints, even on regions of the DNA that are not involved in coding for the final protein. They estimate that such fingerprints affect at least a third of the genome, suggesting that while most DNA does not code for proteins, much of it is nonetheless biologically important important enough, that is, to persist during evolution.

Conservation of genetic information

To gauge how critical a particular stretch of DNA is, biologists often look at the detailed sequence of letters it consists of, and compare it with a corresponding stretch in related creatures like mice. If the stretch serves no purpose, the thinking goes, the two sequences will differ because of numerous mutations since the two species last shared an ancestor. In contrast, its believed that the sequences of important genes will be similar, or conserved, in different species, because animals with mutations in these genes did not survive. Biologists therefore regard conserved sequences as a sign of biological importance.

To test for conservation, researchers need to find matching stretches in the two species. This is relatively easy for stretches that code for proteins, where scientists long ago learned the meaning of the sequence. For noncoding regions, however, the comparison is often ambiguous. Even within a gene, stretches of DNA that code for pieces of the target protein are usually interspersed with much larger noncoding stretches, called introns, that are removed from the RNA working copy of the DNA before the protein is made.

Signs of splicing

Previous researchers assumed that mutations in the middle of introns do not affect the final protein, so they simply accumulate. In the new work, however, the researchers found signs that evolution rejects some types of mutations even in these regions of the genome. Although the selection is weak, introns are not neutral, in their effect on survival, says CSHL professor Michael Zhang, a bioinformatics expert who headed the research team.

To look for selection, CSHL researcher Chaolin Zhang, a doctoral candidate at Stony Brook University, looked in the human genome for a subtle statistical imbalance in how often various letters appear. The researchers attribute this imbalance to special short stretches of DNA that mark regions to be removed. Unless these signal sequences are sprinkled throughout an intron, the data suggest, it may not be properly spliced out, with potentially fatal consequences. Other sequences must likewise be preserved in the regions to be retained.

The scientists found a preference for some letters across intron regions, and the opposite preference in coding regions. Together, these regions make up at least a third of the genome, which is thus under selective pressure during evolution. The result supports other recent studies that suggest that, although most DNA does not code for proteins, much of it is nonetheless biologically important.

In addition to demonstrating how splicing affects genetic evolution, the statistical analysis identified possible signaling sequences, some that were already known and others that are new. According to co-author Adrian Krainer, a CSHL professor and splicing expert, the exciting thing will be to experimentally test whether these predicted elements are really true.


Contact: Jim Bono
Cold Spring Harbor Laboratory

Related biology news :

1. Death protein research secures funding for UCF scientists
2. Yale scientists visualize the machinery of mRNA splicing
3. Cold Spring Harbor Laboratory scientists devise potential approach to treat spinal muscular atrophy
4. Scientists discover 356 animal inclusions trapped in 100 million years old opaque amber
5. Great Ape Trust to gather internationally recognized scientists for Decade of the Mind III
6. CSHL scientists part of team that discovers role of rare gene mutations in schizophrenia
7. CSHL scientists identify a mechanism that helps fruit flies lock-in memories
8. Scientists find that squid beak is both hard and soft, a material that engineers want to copy
9. Scientists launch first comprehensive database of human oral microbiome
10. NYU scientists set stage for understanding how color vision is processed
11. Scientists launch human oral microbiome database
Post Your Comments:
(Date:10/29/2015)... 29, 2015 Daon, a global leader in ... released a new version of its IdentityX Platform ... North America have already installed IdentityX v4.0 ... a FIDO UAF certified server component as ... activate FIDO features. These customers include some of the ...
(Date:10/29/2015)... , Oct. 29, 2015  Connected health pioneer, ... the explosion of technology-enabled health and wellness, and the ... book, The Internet of Healthy Things ... or smartphones even existed, Dr. Kvedar, vice president, Connected ... health care delivery, moving care from the hospital or ...
(Date:10/29/2015)... , Oct. 29, 2015 Today, ... a partnership with 2XU, a global leader in ... a smart hat with advanced bio-sensing technology. The ... athletes to monitor key biometrics to improve overall ... partnership, the two companies will bring together the most ...
Breaking Biology News(10 mins):
(Date:11/24/2015)... ... November 24, 2015 , ... The United States Golf ... the 2016 USGA Green Section Award. Presented annually since 1961, the USGA Green Section ... her work with turfgrass. , Clarke, of Iselin, N.J., is an extension ...
(Date:11/24/2015)... ... November 24, 2015 , ... International Society for Pharmaceutical Engineering ... premier annual events for pharmaceutical manufacturing: 2015 Annual Meeting. The conference took place ... the largest number of attendees in more than a decade. , “The ...
(Date:11/24/2015)... ... 2015 , ... The Academy of Model Aeronautics (AMA), led by its Executive ... Multirotor Grand Prix, to represent the First–Person View (FPV) racing community. , FPV racing ... this type of racing and several new model aviation pilots have joined the community ...
(Date:11/24/2015)... SAN FRANCISCO , Nov. 24, 2015 /PRNewswire/ ... today announced that Emily Leproust, Ph.D., Twist Bioscience ... Piper Jaffray Healthcare Conference on December 1, 2015 ... Palace Hotel in New York City. ... . Twist Bioscience is on ...
Breaking Biology Technology: