- Awarded: 2012
- Award Type: Research
- Award #: 240344
Certain gene mutations can compromise normal protein functioning, leading to heritable diseases. Although researchers have identified a few genes that are disrupted in some people with autism, for the most part, autism spectrum disorders remain genetically undefined. Mutations in the AUTS2 gene, which most likely result in truncated versions of the AUTS2 protein, have been found in several people who exhibit autism symptoms.
Danny Reinberg and his colleagues at the New York University School of Medicine plan to test whether the absence of intact AUTS2 causes autism. Their preliminary results indicate, unexpectedly, that normal AUTS2 protein forms a complex with a set of known polycomb proteins. These are proteins that can remodel chromatin — genetic material composed of DNA and proteins called histones — and thereby regulate the expression of other genes.
On the basis of these promising findings, the researchers plan to explore how AUTS2 regulates gene expression using a powerful assay established in the Reinberg laboratory, along with other biochemical and cell biology analyses. They may also study other proteins that interact with or regulate AUTS2, and map all the genes that AUTS2 regulates in human cells. This should shed light on the critical pathways involved in autism. Lastly, Reinberg’s team plans to analyze a mouse model lacking the AUTS2 gene, which may help clarify how defects in AUTS2 affect brain function.