Huda Zoghbi, of Baylor College of Medicine and the Howard Hughes Medical Institute and Juan Young, also of Baylor and colleagues report in the online Early Edition of the Proceedings of the National Academy of Science, posted the week of October 17, 2005, that the Rett Syndrome gene, MECP2, regulates RNA splicing. This work was funded in part by the Rett Syndrome Research Foundation (RSRF).
Rett Syndrome (RTT) is a severe neurological disorder diagnosed almost exclusively in girls. Children with RTT appear to develop normally until 6 to 18 months of age, when they enter a period of regression, losing speech and motor skills. Most develop repetitive hand movements, irregular breathing patterns, seizures and extreme motor control problems. RTT leaves its victims profoundly disabled, requiring maximum assistance with every aspect of daily living. There is no cure.
RTT is caused by mutations in a gene (MECP2) that regulates expression of other genes. Genes are made up of long stretches of nucleotide bases that are divided into exons (sequences that code for protein) and introns (non-coding sequences). Genes make proteins in a multi-step process. The first, called transcription, takes place in the cell nucleus where DNA is copied into RNA. The second step involves cutting out the introns and pasting together the exons to make up the mature RNA. This RNA is then translated into proteins.
Monica Coenraads | EurekAlert!
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For the first time ever, scientists have determined the cosmic origin of highest-energy neutrinos. A research group led by IceCube scientist Elisa Resconi, spokesperson of the Collaborative Research Center SFB1258 at the Technical University of Munich (TUM), provides an important piece of evidence that the particles detected by the IceCube neutrino telescope at the South Pole originate from a galaxy four billion light-years away from Earth.
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Physicists working with Roland Wester at the University of Innsbruck have investigated if and how chemical reactions can be influenced by targeted vibrational excitation of the reactants. They were able to demonstrate that excitation with a laser beam does not affect the efficiency of a chemical exchange reaction and that the excited molecular group acts only as a spectator in the reaction.
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Optical spectroscopy allows investigating the energy structure and dynamic properties of complex quantum systems. Researchers from the University of Würzburg present two new approaches of coherent two-dimensional spectroscopy.
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