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Genetic Mouse Models of Autism

Studies of autism patients’ DNA revealed decreases or increases in the number of copies of specific genes. Two of these genes are unique in that they do not encode proteins, but instead only make strings of ribonucleic acid (non-coding RNA). The function of these non-coding RNA molecules are completely unknown. Interestingly, protein coding sequences are highly homologous (80-90%) between mouse and man and most genes are shared between these two mammalian species. However, these two non-coding RNA genes cannot be found anywhere within the complete DNA sequence of the mouse genome. They are only found in humans and other primates, suggesting they might have a unique role in the primate brain. Dr. Anderson explored the function of these two novel genes in human neuronal cells and introduced them into the mouse brain to assess their impact on autism-related behaviors and neuronal circuit function. The hope was that these studies would discover the function of these two novel genes and that these studies would also determine whether these genes could alter the behavior and neuronal circuit function to help establish an etiologic role in human autism.