HNSE-O2-6. Interrogating a Centrosomal-specific Role for DDX3X During Brain Development
Nabih Ghani1
Natnael Basazinew1
Ching Lan (Lanie) Chang2
Richard Gu3
Hayley Baker1
Van Vo, Ph.D.2
Faculty Mentor: Edwin Oh, Ph.D.2
1College of Sciences, Department of Life Sciences
2College of Sciences, Nevada Institute of Personalized Medicine
3College of Sciences, Department of Chemistry and Biochemistry
ABSTRACT
DEAD-box proteins are RNA helicases that are characterized by a conserved Asp-Glu-Ala-Asp motif. These proteins are involved in a variety of processes within cells, ranging from cell cycle progression to the innate immune response. DDX3X is a protein-coding gene found on the X chromosome that codes for a DEAD-box RNA helicase and variants in this gene are believed to be involved in 1-3% of unexplained intellectual disabilities in females. The DDX3X protein is vital for cell viability and is found in all tissues within the body. While mutations in the human DDX3X gene have been characterized to cause intellectual disabilities, seizures, and autism, the mechanism that associates the genetic lesions to pathology is still under investigation. Here, we use mass spectrometry to characterize a complex interactome of DDX3X in the mouse brain. We also verify the novel interactions using immunoblotting techniques and show that phenotypes associated with loss of function DDX3X mutations can be explained through some centrosomal proteins identified in our screen. The data suggest that the loss of DDX3X from the centrosome can perturb neuronal development.
Speakers
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Ching Lan (Lanie) Chang | College of Sciences
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Dr. Edwin Oh | School of Medicine
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Hayley Baker | College of Sciences
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Nabih Ghani | College of Sciences
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Natnael Basazinew | College of Sciences
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Richard Gu | College of Sciences