Web address:
     http://www.sciencedaily.com/releases/2013/02/
     130214141608.htm   

Humans and Chimps Share Genetic Strategy in Battle Against Pathogens


Feb. 14, 2013 — A genome-wide analysis searching for evidence of long-lived 
balancing selection -- where the evolutionary process acts not to select the 
single best adaptation but to maintain genetic variation in a population -- has 
uncovered at least six regions of the genome where humans and chimpanzees share 
the same combination of genetic variants.

The finding, to be published Feb. 14 in the journal Science, suggests that in 
these regions, human genetic variation dates back to a common ancestor with 
chimpanzees millions of years ago, before the species split. It also highlights 
the importance of the dynamic co-evolution of human hosts and their pathogens 
in maintaining genetic variation.

Balancing selection allows evolution to keep all hereditary options open. The 
classic human example is the persistence of two versions of the hemoglobin 
gene: a normal version and hemoglobin S., a mutation that distorts the shape 
and function of red blood cells. Those who inherit two normal hemoglobin genes 
are at high risk for malaria, a parasitic disease that infects more than 200 
million people each year. Those who inherit one normal gene and one hemoglobin 
S. gene are partially protected from malaria -- a potentially life-saving 
benefit. Those with two copies of the gene suffer from sickle-cell anemia, a 
serious and lifelong circulatory disease.

"When we looked for genetic clues pointing to other, more ancient, examples of 
balancing selection, we found strong evidence for at least six such regions and 
weaker evidence for another 119 -- many more than we expected," said study 
author Molly Przeworski, PhD, professor of human genetics and of ecology and 
evolution at the University of Chicago.

"We don't yet know what their functions are," she said. None of the six regions 
codes for a protein. There are clues that they are involved in host-pathogen 
interactions, "but which pathogens, what immune processes," she said, "we don't 
know."

The researchers used genetic data from 10 chimpanzees from Western Africa and 
59 humans from sub-Saharan Africa who were part of the 1,000 Genomes Project.

The scientists looked for cases in which genetic variations that arose in the 
ancestor of humans and chimpanzees have been maintained through both lines. The 
fact that variation in these regions of the genome has persisted for so long 
argues that they "must have been functionally important over evolutionary 
time," said Ellen Leffler, a graduate student in Przeworski's laboratory and 
first author of the study.

The researchers, from the University of Chicago and Oxford University, designed 
the study to be very conservative. "We wanted to find the cases we believed the 
most, rather than the most cases," Przeworski said.

Computers sorted snippets of the genetic data from humans and chimps into 
clusters depending on how similar the subjects were to each other. For almost 
every snippet, they found a cluster of humans and a separate cluster of 
chimpanzees, as expected. But there were a few segments of the genomes in which 
each cluster included both chimpanzees and humans; in those regions, some 
humans were more closely related to some chimpanzees than to other humans.

"Instances in which natural selection maintains genetic variation in a 
population over millions of years are thought to be extremely rare," the 
authors wrote. The oldest and best known example of balanced polymorphism 
shared between humans and chimpanzees is the major histocompatibility complex 
(MHC), a group of genes that help the immune system distinguish between the 
body and potential invaders, such as bacteria or viruses.

Last year, a team led by Przeworski found that humans and gibbons shared 
genetic variation related to the ABO blood-group system from a common ancestor.

The six new examples of balanced selection described in this study appear to 
play a role, like the MHC, in fending off infectious disease. This requires a 
variety of evolutionary tools, including balancing selection. When a population 
moves to a new environment -- for example the exodus out of Africa to northern 
Europe -- they face many one-time adjustments, such as adapting to less intense 
sunlight and decreased ultraviolet radiation. Over many generations, their 
offspring manage to decrease melanin production -- a static adaptation for a 
static environment.

Fighting off pathogens is more dynamic, a constant arms race. Balancing 
selection may have enabled humans and chimps to retain multiple lines of 
defense that can be called on when a pathogen evolves new weapons.

"Our results imply that dynamic co-evolution of human hosts and their pathogens 
has played an important role in shaping human variation," Przeworski said. 
"This highlights the importance of a different kind of selection pressure in 
human evolution."

The National Institutes of Health, The Royal Society, the Wellcome Trust and 
the Howard Hughes Medical Institute funded this study. Additional authors 
include Ziyue Gao, Laure Segurel and Guy Sella from the University of Chicago; 
Susanne Pfeifer, Adam Auton, Oliver Venn, Rory Bowden, Peter Donnelly and 
Gilean McVean from Oxford University; Ronald Bonstrop from the Biomedical 
Primate Research Centre in the Netherlands; and Jeffrey Wall from the 
University of California at San Francisco.
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Story Source:

    The above story is reprinted from materials provided by University of 
Chicago Medical Center.

    Note: Materials may be edited for content and length. For further 
information, please contact the source cited above.

Journal Reference:

    E. M. Leffler, Z. Gao, S. Pfeifer, L. Segurel, A. Auton, O. Venn, R. 
Bowden, R. Bontrop, J. D. Wall, G. Sella, P. Donnelly, G. McVean, M. 
Przeworski. Multiple Instances of Ancient Balancing Selection Shared Between 
Humans and Chimpanzees. Science, 2013; DOI: 10.1126/science.1234070

Need to cite this story in your essay, paper, or report? Use one of the 
following formats:
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MLA
University of Chicago Medical Center (2013, February 14). Humans and chimps 
share genetic strategy in battle against pathogens. ScienceDaily. Retrieved 
February 16, 2013, from http://www.sciencedaily.com­ 
/releases/2013/02/130214141608.htm

Note: If no author is given, the source is cited instead.

Disclaimer: This article is not intended to provide medical advice, diagnosis 
or treatment. Views expressed here do not necessarily reflect those of 
ScienceDaily or its staff.




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