Subscribe free to our newsletters via your
. Earth Science News .




Subscribe free to our newsletters via your




















ABOUT US
Predicting the human genome using evolution
by Staff Writers
Oxford, UK (SPX) Nov 02, 2015


File image.

To gain a clearer picture of health and disease, scientists have now provided an independent reference for all human variation by looking through the evolutionary lens of our nearest relatives. Such a powerful approach has been developed by Temple University professor Sudhir Kumar and colleagues and was detailed in the advanced online publication of Molecular Biology and Evolution.

"There are two ways to generate a map of the human genome variation: one is to get genomes of all the humans and build a compilation as the 1,000 Genomes Project and others have undertaken," said Kumar, a Temple University professor and director of the Institute for Genomics and Evolutionary Medicine (iGEM). "The alternative, which is the basis of our approach, is to compile all genome data from other species and predict what the human sequence reference should be."

By observing evolution's "greatest hits" (and misses) and the history of the major themes and patterns of genome conservation (and divergence) across many species, Kumar's approach predicts probable mutations that will be found among people and the fate of human variation.

His research team relied on an evolutionary tree that included 46 vertebrate species spanning over 500 million years of life on Earth to predict the evolutionary probability (EP) of each possibility at each position of our genome. They applied their new method on all protein-coding genes in the human genome (more than 10 million positions). Consistent with the knowledge that most mutations are harmful, they found very low EPs (lower than 0.05) for a vast majority of potential mutations (94.4 percent).

Next, they produced a complete evolutionary catalog of all human protein variation, or evolutionary variome (eVar), that can be used to better understand human diseases and adaptations. And, it can be directly applied to the genomes of any other species. Their eVar was also compared against available human sequence data from the 1,000 Genomes Project to look at benign and disease mutations, and found that the use of EPs could correctly diagnose them. They also used a cancer benchmark dataset to show that EPs accurately predicted cancer-related mutations.

Lastly, they found a large number (36,691) of variations, that according to the EP data were evolutionarily improbable (EP less than 0.05), but were found 100 percent of the time in the 1,000 Genomes Project data---which Kumar suggests could be strong candidates for adaptive evolution---and what may make us uniquely human.

"The fascinating part of the story is that once we know what our ancient evolutionary history predicts our sequence to be, then we can compare this expectation to what we observe in human populations today. When there is a discordance such that an unlikely variant is found in many people, it directly indicates that something has changed about us or the protein," said Kumar.

Thanks for being here;
We need your help. The SpaceDaily news network continues to grow but revenues have never been harder to maintain.

With the rise of Ad Blockers, and Facebook - our traditional revenue sources via quality network advertising continues to decline. And unlike so many other news sites, we don't have a paywall - with those annoying usernames and passwords.

Our news coverage takes time and effort to publish 365 days a year.

If you find our news sites informative and useful then please consider becoming a regular supporter or for now make a one off contribution.

SpaceDaily Contributor
$5 Billed Once


credit card or paypal
SpaceDaily Monthly Supporter
$5 Billed Monthly


paypal only

.


Related Links
Molecular Biology and Evolution (Oxford University Press)
All About Human Beings and How We Got To Be Here






Comment on this article via your Facebook, Yahoo, AOL, Hotmail login.

Share this article via these popular social media networks
del.icio.usdel.icio.us DiggDigg RedditReddit GoogleGoogle

Previous Report
ABOUT US
Extinct ape species resets the scale on humans' ancestors
Washington DC (SPX) Nov 02, 2015
A team of researchers from the George Washington University (GW) and the Institut Catala de Paleontologia Miquel Crusafont (ICP) identified a new genus and species of small ape that existed before the evolutionary split of humans/great apes (hominids) and gibbons (the 'lesser apes' or hylobatids). Named Pliobates cataloniae, the new species has important implications for reconstructing the last ... read more


ABOUT US
Philippines' annual graveyard gatherings mix celebration with sadness

Using Google Street View to assess the engineering impact of natural disasters

Four castaways rescued off Mexico after month adrift

Third night in the cold for Afghan-Pakistan quake survivors

ABOUT US
Holograms go mainstream, with future full of possibility

New HP Enterprise sees cloud ties with Amazon, others

U.S. Air Force awards Southwest Research Institute development contract

New System Giving SMAP Scientists the Speed They Need

ABOUT US
The key to drilling wells with staying power in the developing world

'Toilet to tap' gains appeal in drought-parched California

Fiji leader says Pacific 'doomed' if climate talks fail

Beverly Hills nailed for not cutting back on water use

ABOUT US
NASA finds mass gains of Antarctic Ice Sheet greater than losses

Mummified seals reveal ecological impact of ice change

Arctic attracting new military scrutiny

Fishing main hurdle to Antarctic marine reserves: Australia

ABOUT US
Potato harvest reduced by half

EU lawmakers throw out GMO compromise law

Reducing the sweetness to survive

Farmers lose debt gamble in typhoon-plagued Philippines

ABOUT US
Iraq PM declares emergency in areas hit by heavy rain

Cyclone heads for Yemen after injuring 200 islanders

Oman, Yemen warn coastal areas as severe cyclone approaches

'Extremely severe' cyclone heading for Yemen, Oman: UN

ABOUT US
Africa's long-awaited intervention force finally stutters to life

South Sudan soldiers poach elephants in DR Congo

US charges Burkina man with $12m mosquito net fraud

Zimbabwe's Robert Mugabe wins Confucius Peace Prize

ABOUT US
Divisive religious beliefs humanity's biggest challenge: Grayling

Predicting the human genome using evolution

Extinct ape species resets the scale on humans' ancestors

Research backs human role in extinction of mammoths, other mammals




Memory Foam Mattress Review
Newsletters :: SpaceDaily :: SpaceWar :: TerraDaily :: Energy Daily
XML Feeds :: Space News :: Earth News :: War News :: Solar Energy News






The content herein, unless otherwise known to be public domain, are Copyright 1995-2017 - Space Media Network. All websites are published in Australia and are solely subject to Australian law and governed by Fair Use principals for news reporting and research purposes. AFP, UPI and IANS news wire stories are copyright Agence France-Presse, United Press International and Indo-Asia News Service. ESA news reports are copyright European Space Agency. All NASA sourced material is public domain. Additional copyrights may apply in whole or part to other bona fide parties. All articles labeled "by Staff Writers" include reports supplied to Space Media Network by industry news wires, PR agencies, corporate press officers and the like. Such articles are individually curated and edited by Space Media Network staff on the basis of the report's information value to our industry and professional readership. Advertising does not imply endorsement, agreement or approval of any opinions, statements or information provided by Space Media Network on any Web page published or hosted by Space Media Network. Privacy Statement