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Analysis of 29 mammals reveals 'dark matter' of human genome

October 15, 2011 - Washington

By comparing the genomes of 29 different mammals, US scientists have discovered the vast majority of the so-called "dark matter" in the human genome that could explain genetic variability in cancer and other diseases.

"The discovery of this regulatory network fills in a missing piece in the puzzle of cell regulation and allows us to identify genes never before associated with a particular type of tumour or disease," said Andrea Califano, PhD, professor of systems biology, director of the Columbia Initiative in Systems Biology, and senior author of the CUMC research team.

The findings have the potential to broaden investigations into how tumours develop and grow, who is at risk for cancer, and how to identify and inactivate key molecules that encourage the growth and spread of cancer.

"This network helps explain the so-called dark matter of the genome," added Dr. Califano.

"For years, scientists have been cataloguing all the genes involved in particular diseases. But if you add up all the genetic and epigenetic alterations that have been identified, even with high-resolution studies, there are still many cases where you cannot explain why a person has the disease.

"Now we have a new tool for explaining these genetic variations, for gaining a better understanding of the disease and, ultimately, for finding new treatments," she added.

The study was recently published in the journal Cell.


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