Some scientists call it the “final frontier” of our DNA—even though it lies at the center of every X-shaped chromosome in nearly every one of our cells. It’s called the centromere, and it plays a crucial role in the everyday cell division that keeps us healthy. Which also makes it a key suspect in birth defects, cancers and other diseases that arise from cell division problems. Now, a new technique may force this mysterious stretch of DNA to give up its secrets at last. Already, the first test of the approach has yielded clues about the role of centromeres in Down syndrome, which arises when a child inherits an extra copy of chromosome 21.
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In the new paper, [Rafael] Contreras-Galindo, [David] Markovitz, active emeritus U-M professor Mark Kaplan, M.D., and a team of collaborators report results from their comparison of centromeres from individuals with and without Down syndrome. They show a strong link between the condition and instabilities found on chromosome 21––both in the centromere and in the stretches of DNA that flank it, called pericentromeres. Unstable centromeres and pericentromeres could help explain why people with Down syndrome inherit an extra copy of that chromosome, although much work remains to test this hypothesis.
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