Nav: Home

Over 800 new genome regions possibly relevant to human evolution identified

February 04, 2019

A study by the research group Bioinformatics of Genome Diversity at the Universitat Autònoma de Barcelona (UAB), published in the journal Nucleic Acids Research, increases by 40% the total number of signals of natural selection detected in the human genome to date. Researchers were able to add a total of 873 new regions of the human genome as firm candidates to have been the target of natural selection at some point from the emergence of our species to the present. These are added to the 1,986 regions that had already been detected, providing a very valuable set of data to help answer the question: what makes us humans?

The large amount of genomic data fostered by the genomic revolution has drastically changed the evolutionary vision of the human past, challenging interpretations and solving disputes upheld for years by archaeologists, historians, anthropologists and linguists.

By colonising almost all corners of the planet, our species has found itself subject to continuous adaptation challenges. These selective pressures left signatures in the affected regions of the genomethat can be inferred by analysing the genetic variation.

In 2018, the research group Bioinformatics of Genome Diversity at the Universitat Autònoma de Barcelona (UAB), in collaboration with scientists from the Institute of Evolutionary Biology (IBE), published PopHuman, the greatest inventory of genetic diversity measures computed throughout the human genome using the data from the 1000 Genome Project. By using PopHuman, the UAB researchers scanned a set of 8 measures, which detect different selection footprints and cover distinct time scales along the genome. The detection of these regions in our species allows us to assess the general genomic impact as well as to determine the specific genomic variants responsible for the different human adaptations.

The study includes information from 22 human populations and a total of 2,859 candidate regions under selection. A total of 1986 of these regions had already been detected. The new study by the UAB researchers therefore contributes with 40% more genomic signals relevant to human adaptation, some of which are related to the hybridisation of our species with the Neanderthals and other hominid species. Among the results obtained are well-known examples of local adaptations, such as the recurrent adaptations produced in the region containing the LCT gene, which encodes the enzyme responsible for the degradation of lactose. Another classical example of local adaptation can be found in the region containing the EGLN1 gene, related to the route of the hypoxia inducible factor (HIF), which is related to the ability to live in high-altitudes, such as those living in Tibet.

Researchers foresee that future studies of the newly-detected genomic signals will help them to explain new examples of human adaptation, as well as to improve our knowledge on how the introgression of archaic genomes has modelled our current genomes.

The results have been compiled in the new PopHumanScan catalogue. The catalogue was designed as a collective database that, for the first time, includes numerous structural and functional annotations on the regions, as well as the recurrence of selection signals in the different populations analysed. PopHumanScan aims to become a central repository to share information, guide future studies and help advance our understanding of how selection has modelled our genome as a response to the changes in the environment or lifestyle of human populations.
-end-
This study was made available online in October 2018 ahead of final publication in print in January 2019.

Universitat Autonoma de Barcelona

Related Genome Articles:

A close look into the barley genome
An international consortium, with the participation of the Helmholtz Zentrum München, Plant Genome and Systems Biology Department (PGSB), has published methodologically significant data on the barley genome.
Barley genome sequenced
Looking for a better beer or single malt Scotch whiskey?
From Genome Research: Pathogen demonstrates genome flexibility in cystic fibrosis
Chronic lung infections can be devastating for patients with cystic fibrosis (CF), and infection by Burkholderia cenocepacia, one of the most common species found in cystic fibrosis patients, is often antibiotic resistant.
A three-dimensional map of the genome
Cells face a daunting task. They have to neatly pack a several meter-long thread of genetic material into a nucleus that measures only five micrometers across.
Rhino genome results
A study by San Diego Zoo Global reveals that the prospects for recovery of the critically endangered northern white rhinoceros -- of which only three individuals remain -- will reside with the genetic resources that have been banked at San Diego Zoo Global's Frozen Zoo®.
Science and legal experts debate future uses and impact of human genome editing in Gender & the Genome
Precise, economical genome editing tools such as CRISPR have made it possible to make targeted changes in genes, which could be applied to human embryos to correct mutations, prevent disease, or alter traits.
Genome: It's all about architecture
How do pathogens such as bacteria or parasites manage to hide from their host's immune system?
Accelerating genome analysis
An international team of scientists, led by researchers from A*STAR's Genome Institute of Singapore and the Bioinformatics Institute, have developed SIFT 4G (SIFT for Genomes) -- a software that can lead to faster genome analysis.
Packaging and unpacking of the genome
Single-cell techniques have been used to investigate histone replacement and chromatin remodeling in developing oocytes.
The astounding genome of the dinoflagellate
Dinoflagellates live free-floating in the ocean or symbiotically with corals, serving up -- or as -- lunch to a host of mollusks, tiny fish and coral species.

Related Genome Reading:

Best Science Podcasts 2019

We have hand picked the best science podcasts for 2019. Sit back and enjoy new science podcasts updated daily from your favorite science news services and scientists.
Now Playing: TED Radio Hour

Changing The World
What does it take to change the world for the better? This hour, TED speakers explore ideas on activism—what motivates it, why it matters, and how each of us can make a difference. Guests include civil rights activist Ruby Sales, labor leader and civil rights activist Dolores Huerta, author Jeremy Heimans, "craftivist" Sarah Corbett, and designer and futurist Angela Oguntala.
Now Playing: Science for the People

#521 The Curious Life of Krill
Krill may be one of the most abundant forms of life on our planet... but it turns out we don't know that much about them. For a create that underpins a massive ocean ecosystem and lives in our oceans in massive numbers, they're surprisingly difficult to study. We sit down and shine some light on these underappreciated crustaceans with Stephen Nicol, Adjunct Professor at the University of Tasmania, Scientific Advisor to the Association of Responsible Krill Harvesting Companies, and author of the book "The Curious Life of Krill: A Conservation Story from the Bottom of the World".