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Breakthroughs in Science

  • Alternative splicing (AS) in genes generates vast transcriptomic and proteomic complexity greater than the number of genes of an individual. Dr. Geschwind and colleagues report that small regions of 3-15 nucleotides (microexons) display marked evolutionary conservation and switch-like regulation. They state “The results thus reveal a highly conserved program of dynamic microexon regulation associated with the remodeling of protein-interaction networks during neurogenesis, the misregulation of which is linked to autism.”

    "A highly conserved program of neuronal microexons is misregulated in autistic brains."

    Irimia et al. Cell 159:1511-1523, 2014. (Abstract only)
  • Research in Dr. Snyder’s lab provided a framework for understanding the large number of genes that are altered in ASD. Many of the genes altered in ASD code for proteins in the corpus striatum, a group of structures responsible for controlling movement, motivation and rewards.

    "Integrated Systems Analysis Reveals a Molecular Network Underlying Autism Spectrum Disorders." Li et al. Molecular Syst. Biol. 10:774, 2014.

  • Dr. Sulzer and his colleagues have established that a major difference between the brains of Autism Spectrum Disorder donors and control brains was that the ASD donors showed evidence of less pruning of spines in layer V pyramidal neurons than normal donors. The research was based on tissue from 25 donors to this bank.

    "Loss of mTOR-Dependent Macroautophagy Causes Autistic-like Synaptic Pruning Deficits" Tang et al. Neuron 83, 1-13, 2014.

  • The laboratories of Anne Comi and Jonathan Pevsner have identified a somatic mutation resulting in Sturge-Weber Syndrome using tissue donated by families with this disorder to the UMB BTB.

    "Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ" Shirley et al., N. Eng. J. Med. 2013, DOI: 10.1056/NEJMoa1213507