In a rare disorder, a familiar protein disrupts gene functionMay 27, 2009As 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. Ian D. Krantz, of The Children's Hospital of Philadelphia, and colleagues investigated cohesin, a protein complex consisting of at least four proteins that form a ring that encircles chromosomes during cell division. Cohesin's long-established "canonical" role is to control chromatids-the long strands that chromosomes form during DNA replication. However, one open question in biology has been, "What does cohesin do when cells are not dividing?" The paper from Krantz's team provides part of the answer, as the first study in human cells to identify genes that are dysregulated when cohesin doesn't work properly. Cohesin's role in dysregulating gene expression has attracted considerable scientific interest with a recent discovery that it may also be implicated in cancer. Using DNA microarrays, Krantz and colleagues did a genome-wide analysis of mutant cell lines from 16 patients with severe CdLS. All the cells had mutations in the NIPBL gene, which plays a role in moving cohesin onto and off chromosomes, or in genes encoding components of the cohesin complex itself. The study team identified hundreds of genes that were dysregulated in patient samples compared to samples from healthy individuals, and also detected specific gene expression profiles that are unique to CdLS patients. Importantly, said Krantz, the expression levels of dysregulated genes corresponded to the severity of the disease. "We found that gene expression is exquisitely regulated by cohesin and the NIBPL gene," said Krantz. "The gene expression patterns we found have great potential to be used in a diagnostic tool for Cornelia de Lange syndrome." He added that gene profiling arrays have the potential to be developed as single-platform tools to diagnose, from a patient's blood sample, not only CdLS, but also a variety of other developmental disorders. Public Library of Science |
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| Related Gene Expression Current Events and Gene Expression News Articles It's a gas: New discovery may lead to heartier, high-yielding plants In a research report published in the November 2009 issue of the journal GENETICS, scientists show how a family of genes (1-aminocyclopropane-1-carboxylate synthase, or ACS genes) are responsible for production of ethylene. New research into the mechanisms of gene regulation A team led by Penn State's Ross Hardison, T. Ming Chu Professor of Biochemistry and Molecular Biology, has taken a large step toward unraveling how regulatory proteins control the production of gene products during development and growth. The Protein Srebp2 Drives Cholesterol Formation in Prion-Infected Neuronal Cells Which May Promote Prion-Dependent Diseases The regulating protein Srebp2 drives cholesterol formation, which prions need for their propagation, in prion-infected neuronal cells. Study reveals why certain drug combinations backfire Combination drug therapy has become a staple for treating many infections. For instance, doctors treat extensively drug resistant forms of tuberculosis with one drug that breaks down the pathogen's protective barriers and opens the door for another to deliver the deathblow. Penn Study Provides First Clear Idea of How Rare Bone Disease Progresses An international team of scientists, led by researchers at the University of Pennsylvania School of Medicine, is taking the first step in developing a treatment for a rare genetic disorder called fibrodysplasia ossificans progressiva (FOP), in which the body's skeletal muscles and soft connective tissue turns to bone, immobilizing patients over a lifetime with a second skeleton. Why can't chimps speak? If humans are genetically related to chimps, why did our brains develop the innate ability for language and speech while theirs did not? Treatment to improve degenerating muscle gains strength A study appearing in Science Translational Medicine puts scientists one step closer to clinical trials to test a gene delivery strategy to improve muscle mass and function in patients with certain degenerative muscle disorders. BUSM researchers show dieters can experience neurobiological similarities of drug addicts Researchers from Boston University School of Medicine (BUSM) have shown that intermittent access to foods rich in fat and sugar induces changes in the brain which are comparable to those observed in drug dependence. FDA approved leukemia drugs shows promise in ovarian cancer cells The drug Sprycel, approved for use by the U.S. Food and Drug Administration in patients with chronic myeloid leukemia, significantly inhibited the growth and invasiveness of ovarian cancer cells and also promoted their death, a study by researchers with UCLA's Jonsson Comprehensive Cancer Center found. Deciphering the regulatory code Embryonic development is like a well-organised building project, with the embryo's DNA serving as the blueprint from which all construction details are derived. More Gene Expression Current Events and Gene Expression News Articles |
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