6 research outputs found

    Prolonged maturation of prefrontal white matter in chimpanzees

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    Delayed maturation in the prefrontal cortex, a brain region associated with complex cognitive processing, has been proposed to be specific to humans. However, we found, using a longitudinal design, that prefrontal white matter volume in chimpanzees increased gradually with age, and the increase appears to continue beyond the onset of puberty, as in humans. This provides the first evidence for a prolonged period of prefrontal connection elaboration in great apes

    Synthetic Lethal and Convergent Biological Effects of Cancer-Associated Spliceosomal Gene Mutations

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    Mutations affecting RNA splicing factors are the most common genetic alterations in myelodysplastic syndrome (MDS) patients and occur in a mutually exclusive manner. The basis for the mutual exclusivity of these mutations and how they contribute to MDSis not well understood. Here we report that although different spliceosome gene mutations impart distinct effects on splicing, they are negatively selected for when co-expressed due to aberrant splicing and downregulation of regulators of hematopoietic stem cell survival and quiescence. In addition to this synthetic lethal interaction, mutations in the splicing factors SF3B1 and SRSF2 shareconvergent effects on aberrant splicing of mRNAs that promote nuclear factor kB signaling. These data identify shared consequences of splicing-factor mutations and the basis for their mutual exclusivity
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