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Gene sequencing project mines data once considered 'junk' for clues about cancer
Date:1/24/2013

a particular chromosome; telomeres cannot.

"For scientists analyzing whole-genome sequencing data the telomeres were just a headache," said the study's corresponding author Jinghui Zhang, Ph.D., an associate member of the St. Jude Department of Computational Biology. "We could not properly map them to a position on the human genome, so we didn't really use them."

Then listening to a colleague's presentation, Parker had an idea: "Why not just count the telomeric DNA and look for changes between the normal and cancer cells of patients?"

Zhang said the question was a conceptual leap in thinking about how to use whole-genome sequencing data to study telomeres and cancer. "This is the classic story of how one person's problem is another person's gold," she said.

Parker and his colleagues developed an approach that correctly distinguished between older and younger individuals based on the amount of telomeric DNA in their blood or bone marrow cells. Researchers used three other methods to confirm that whole-genome sequencing could be used to reliably capture telomeric DNA differences between normal and cancer cells. Additional supportive evidence came when investigators found that the method yielded similar estimates of the telomeric DNA content of twins with leukemia who shared similar genetic alterations.

When investigators used the method to study pediatric cancer patients, they found tumors that gained telomeric DNA were also more likely to contain chromosomal abnormalities, including rearrangements within and between chromosomes. Researchers also found that different cancers had distinct patterns of telomeric DNA change. In some cases, the change offered clues about the mechanism responsible for lengthening the telomeres, pointing to a process called alternative lengthening of telomeres.


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Contact: Carrie Strehlau
carrie.strehlau@stjude.org
901-595-2295
St. Jude Children's Research Hospital
Source:Eurekalert

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