In a rare disorder, a familiar protein disrupts gene function

As reported this week in the open-access journal PLoS Biology, an international team of scientists studying a rare genetic disease has discovered that a bundle of proteins already known to be important for keeping chromosomes together also plays an important role in regulating gene expression in humans. In addition to shedding light on the biological roles of these proteins, the research may lead to the development of better diagnostic tools for Cornelia de Lange syndrome (CdLS), a multisystem developmental disease.

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