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'Punctuated' evolution in the human genome

Researchers report today that regions of the human genome have been hotspots for acquiring duplicated DNA sequences ?but only at specific time-points during evolution. It appears that long periods of genomic stasis, at least with regard to the accretion of duplicated DNA fragments, are "punctuated" by relatively brief episodes of duplicative activity. This is the first time that such temporal bias has been documented for DNA duplications, and it challenges the evolutionary paradigm that continuous alterations occur during the course of genome evolution.

The scientists, who are affiliated with the University of Washington (Seattle, WA), Case Western Reserve University (Cleveland, OH), the University of Bari (Bari, Italy), Washington University (St. Louis, MO), Washington State University (Pullman, WA), and Duke University (Durham, NC), report their findings online today in the journal Genome Research.

Dr. Evan E. Eichler, Associate Professor of Genome Sciences at the University of Washington, heads the team. "Primate genomic sequence comparisons are becoming useful for elucidating the evolutionary history and organization of our own genome," he explains. "Such studies are particularly informative within human pericentromeric regions ?areas of rapid change in genomic structure."

Pericentromeric regions are sequences of DNA that lie in close proximity to the centromere, which plays a critical role in chromosomal separation during cell division. Pericentromeric regions contain an abundance of segmental duplications, which are large DNA sequences that exhibit strong similarity to the euchromatic ancestral loci from which they were copied. According to Eichler, the limited number of comparisons of pericentromeric regions among closely related primates suggests extraordinary dynamism, where duplication, deletion, and rearrangement of large segments of DNA occur at an unprecedented scale.

Eichler's group performed a comprehensive structural an
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Source:Cold Spring Harbor Laboratory


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