In Rare Disease, A Familiar Protein Disrupts Gene Function

Thursday, May 28, 2009 - 20:28 in Biology & Nature

Scientists studying a rare genetic disease discovered that a bundle of proteins with the long-established function of keeping chromosomes together also plays an important role in regulating genes in humans. When cohesin, a protein complex, doesn't work properly, genes are dysregulated in the multisystem developmental disease Cornelia de Lange syndrome.

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