This is the first time that we have a global view of the evolutionary origin of some of the most complicated regions of the human genome, said paper author Evan Eichler, a professor from the University of Washington School of Medicine and the Howard Hughes Medical Institute.
The researchers tracked down the ancestral origin of more than two thirds of these long DNA duplications. In the Nature Genetics paper they highlight two big picture findings.
First, the researchers suggest that specific regions of the human genome experienced elevated rates of duplication activity at different times in our recent genomic history. This contrasts with most models of genomic duplication which suggest a continuous model for recent duplications.
Second, the researchers show that a large fraction of the recent duplication architecture centers around a rather small subset of core duplicons short segments of DNA that come together to form segmental duplications. These cores are focal points of human gene/transcript innovations.
We found that not all of the duplications in the human genome are created equal. Some of them the core duplicons appear to be responsible for recent genetic innovations the in human genome, explained Pevzner, who is the director of the UCSD Center for Algorithmic and Systems Biology, located at the UCSD division of Calit2.
The authors uncovered 14 such core duplicons.
We note that in 4 of the 14 cases, there is compelling evidence that genes embedded within the cores are associated with novel human gene innovations. In two case
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University of California - San Diego