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Big differences in duplicated DNA distinguish chimp and human genomes

f human-only duplications were new duplications in our species. They likely started out as a single copy of a segment in an ancestral species of both chimps and humans, and after the species split off from each other, that segment was duplicated many times in the human genome over millions of years. Most of the remaining one-third of duplication differences are due to deletion of segments in one of the two species - the segment is deleted from the genome, copy by copy, over time.

The researchers found that many of the species-specific duplications have also caused differences in gene expression. Of the individual genes within the duplicated segments of the genome, many of those that are specific to either chimps or humans are expressed differently in the two species. Gene expression is the process through which genetic information is changed into structures and functions in a living cell.

In addition to other differences, researchers found that among shared segmental duplications, humans often had fewer copies of those segments than chimps. The most dramatic example involved a piece of DNA near the site of an ancient chromosome fusion point on chromosome 2. In humans, this piece of DNA is represented as four copies, but in the chimp it has expanded to about 500 copies near the end of the chromosomes. Researchers don't yet understand why this particular piece of DNA has been independently unstable in the evolution of both the human and chimp genomes.


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Source:University of Washington


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