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Silenced gene research gains loud praise

By: Lisa Du

Issue date: 12/5/07 Section: News
Last update: 12/5/07 at 5:57 AM EST
Alexander Hartemink, an assistant professor of computer science, wrote an algorithm to identify silenced genes.
Media Credit: Chris McGuire
Alexander Hartemink, an assistant professor of computer science, wrote an algorithm to identify silenced genes.

Imagine knowing that you're more susceptible to cancer because of nonfunctional genes inherited from your parents.

Such knowledge might soon be available, according to a recent study by Duke researchers, graduate students and undergraduates. Their study, published in the Dec. 3 issue of journal Genome Research, revealed 156 possible "imprinted" genes in the human genome.

Imprinted genes are like mutated genes in that only one copy is functional. The other inherited copy is turned off and silenced by molecular markers from either the mother or father, leaving no back-up if the one working copy is damaged, said Randy Jirtle, professor of radiation oncology at Duke University Medical Center and a senior author of the study.

The importance of these imprinted genes is connected to the epigenome, which is the regulation of genes, he added.

"The copy that's turned off, that's marked in the egg or sperm in the previous generation, that's done by epigenetic mechanisms," Jirtle said. "DNA methylation, chromatin changes, histone marks, that type of thing."

Because the genes are epigenetically marked, they are more susceptible to environmental modifications, said Alexander Hartemink, assistant professor of computer science and a senior author of the study.

Jirtle explained that environmental conditions such as nutrition could turn the gene on or off and can make a person more susceptible to certain diseases and disorders. For example, individuals with two turned-on copies of the gene for insulin-like growth factor II are more prone to have colon, breast or prostate cancer.

"It's a premalignant environment that's present in your body basically," he said.

Since the imprinted genes are already marked in the gamete stages, conditions like cancer, autism and schizophrenia can be detected very early by looking at the epigenome, which can potentially change the whole approach to treatment of such diseases, Jirtle said.

"I think in the long run we're going to understand diseases better, in particular the role that imprinted genes play," he added.

Jirtle said the process to find these imprinted genes required a collaborative effort between biology and computer science, and could not have been done without either one.
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April Eppler

posted 12/05/07 @ 3:36 PM EST

I have a six year old autistic son, so this is very interesting to me.

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