Richard Gu1, 2
Van Vo, Ph.D.3
Faculty Research Mentor: Edwin Oh, Ph.D.3
1College of Sciences, Department of Chemistry and Biochemistry
2Howard R. Hughes College of Engineering, Department of Computer Science
3Nevada Institute of Personalized Medicine
Primary cilia are small hair-like organelles that are expressed in various types of mammalian cells. Their function is to gather information about their environment and induce a functional response in nearby cells. Defects in primary cilia can lead to diseases/disorders in humans, known as ciliopathies. Some ciliary proteins have been associated with the development of cancer. To better understand the association between primary cilia and cancer, online databases were used to investigate the alterations of ciliary genes in different cancers. A list of ciliary genes was compiled utilizing the CiliaCarta database, which is a validated compendium of ciliary genes. The list of ciliary genes was then searched in cBioPortal, a cancer database that allows for analysis of large-scale cancer genomics data sets, to determine if there are mutations/changes in expression of these ciliary genes in different cancers. Various protein changes and mutations of ciliary genes such as IFT88, IFT57, TUBB3, and TRAF3IP1 were identified in cancers such as glioblastoma, pediatric ewing sarcoma, and colorectal adenocarcinoma. Through further analysis, missense mutations were the most prevalent followed by splice mutations. By identifying the types and locations of these mutations, we can further investigate how mutations of specific ciliary genes contribute to a particular cancer through using cancer cells or animal models.