Wednesday, April 23, 2014

Splice Variants Reveal Connections Among Autism Genes

Researchers from the University of California, San Diego School of Medicine and the Center for Cancer Systems Biology at the Dana-Farber Cancer Institute has discovered a new aspect of autism, showing that some proteins involved in the disorder interact with more partners than known. These had not been found before because they involve alternately spliced forms of autism genes found in the brain.


In the study, the scientists isolated hundred of autistic genes from the brain, and screened their protein products against other proteins to identify interacting partners. Proteins produced by alternatively-spliced autism genes formed a network that produced a view of how autism genes are connected.

The total number of interactions doubled, and what was found was that the different variants of the same proteins could alter the wiring of the entire system. This is also the first time for anything like this to happen.

The new network between proteins between proteins also showed how multiple autism genes connect to one another. Scientists found that a class of mutations involved in autistic genes, known as copy number variants, involve genes that are connected closely or indirectly.

Not only did this new discovery illuminate greater knowledge on autism proteins, but the new networks represent a resource for future autism studies and also places where new drug treatments may be experimented.


Themes of Nature of Science:

  • Science is collaborative
  • Science is based on evidence
  • Role of credibility
  • Importance of repeatability
  • Role of motivation and curiosity
http://www.biologynews.net/archives/2014/04/11/splice_variants_reveal_connections_among_autism_genes.html


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