University of South Carolina

Researchers detect life cycle in mammalian genomes

The fragile regions in mammals’ genomes that are thought to play a key role in evolution go through a “birth-and-death” process, according to new work by University of South Carolina and University of California-San Diego researchers.

The study, published this week in the journal Genome Biology, could help researchers identify the current fragile regions in the human genome – information that may reveal how the human genome will evolve in the future.

“We made a step toward understanding the mechanism of genome rearrangements that ‘shuffle’ genomic architectures and represent one of the major driving forces behind evolutionary diversity,” said Dr. Max Alekseyev, one of the study’s authors and a professor of computer science in the College of Engineering and Computing at USC. “In contrast to previous studies, our results allow one not only to analyze the evolution in retrospect but also to predict the future changes in genomic architectures.”

Alekseyev worked with Dr. Pavel Pevzner from UC-San Diego. The two researchers study genomes and genome evolution from a computational perspective.

An important question in evolutionary studies is whether there are "fragile" regions where genome rearrangements are happening over and over again. The fragile regions are prone to “genomic earthquakes” that can trigger genome rearrangements, disrupt genes, alter gene regulation and otherwise play an important role in the evolution and emergence of new species. For example, humans have 23 chromosomes while some apes have 24 chromosomes, a consequence of a genome rearrangement that fused two chromosomes in our ape ancestor into human chromosome 2.

Although nearly all recent studies support the existence of these fragile regions, there have been some doubts about their existence, raised from a comparative analysis of multiple mammalian genomes.

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