The Most Detailed Template yet of the Different Ways in Which Women and Men, Individuals and Populations, are Driving One of the Main Motors of Evolution
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(HealthNewsDigest.com) – REYKJAVIK, Iceland, October 27, 2010 — Scientists from deCODE genetics today publish in Nature the highest resolution recombination map of the human genome yet developed. Recombination is the reshuffling of the genome that occurs in the formation of eggs and sperm: we inherit one version of each chromosome from each of our parents,and create novel blends of the two that we pass on to our offspring. This process is fundamental to generating human diversity, providing novel configurations of the genome that enable the species to adapt to ever-changing environments. The map is published and made freely available to the scientific community at http://www.nature.com, and at
http://www.decode.com/addendum, where updates will be provided.
In 2002, deCODE created a 6000-marker framework recombination map that
enabled the correct assembly of the first sequence of the human genome. The
map published today, which is put into the public domain as deCODE and other
institutions begin to sequence and analyze large numbers of whole genomes,
was constructed using 300,000 single-letter markers, or SNPs. It incorporates
data from more than 15,000 parent-offspring pairs participating in deCODE’s
gene discovery work in Iceland to show in high resolution where
recombinations tend to take place. Among the findings are that some 15% of
male and female recombination hotspots are unique to each sex. Moreover,
women tend to contribute more to generating new combinations of genes, while
men are doing more to create new versions of the genes themselves. So too,
new variations in the PRDM9 gene have been identified that correlate with
differences between individuals in how evenly recombinations are spread
across the genome, and with different distributions of recombinations between
people of African and European origin.
“This map is to me a thing of beauty. We are looking in quite high
definition at the ingenious processes driving the generation of human
diversity. From our previous work we have seen in basic terms that
recombination is different between women and men, and between individuals and
families. There are genetic factors that increase recombination in one sex
while decreasing it in the other; women recombine at 1.6 times the rate of
men; and women who recombine more tend to have more children. So we knew that
nature is putting a premium on the generation of diversity. Here we see in
detail the variations involved in generating variation, from women and men
playing complementary roles in generating new versions and new configurations
of genes, to differences in versions of PRDM9 between Africans and
Europeans,” said Kari Stefansson, deCODE CEO and senior author on the paper.
The construction of this map was made possible by the unique breadth and
comprehensiveness of deCODE’s population genetics resources in Iceland, and
by new methods developed by deCODE statisticians for determining the parental
origins of genetic markers. Because this new map is built by looking directly
at real recombination events in large numbers of real families, it provides
the first detailed picture of recombination differences between the sexes and
individuals. By contrast, other recent recombination maps have been
constructed using data on linkage disequilibrium – the frequency with which
strings of genetic markers tend to be inherited together – in large numbers
of unrelated people. The virtue of the latter maps is that they provide an
historical catalogue of recombination as our species has evolved; the new
deCODE map provides the complementary view of what this process looks like in
a real population at a specific point in time.
About deCODE
Headquartered in Reykjavik, Iceland, deCODE genetics is a global leader
in analyzing and understanding the human genome. Using its unique expertise
and population resources, deCODE has discovered key genetic risk factors for
dozens of common diseases ranging from cardiovascular disease to cancer.
deCODE employs its capabilities to develop DNA-based tests and scans to
better understand individual risk and empower prevention, and partners its
tests, intellectual property and analytical capabilities with companies and
research institutions around the globe. Through its CLIA- and CAP-certified
laboratory deCODE offers DNA-based tests for gauging risk and empowering
prevention of common diseases, including deCODE ProstateCancer(TM); deCODE
MI(TM) for heart attack; deCODE BreastCancer, for the common forms of breast
cancer; deCODE AF(TM) for atrial fibrillation and stroke; deCODE
Glaucoma(TM); and deCODE T2(TM) for type 2 diabetes. Through its pioneering
personal genome analysis service deCODEme(TM), deCODE enables individuals to
better understand their risk of dozens of common diseases and to learn about
their ancestry and other traits. Visit us on the web at
http://www.decode.com; at http://www.decodediagnostics.com; at
http://www.decodeme.com; and on our blog at http://www.decodeyou.com.
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