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ARL2BP, a novel ciliopathy protein, is required for cilia microtubule formation Abigail R. Moye Cilia are specialized organelles essential for cellular function. Not surprisingly, mutations in ciliarelated genes are linked to multi-syndromic diseases termed ciliopathies. These include blinding diseases such as retinitis pigmentosa (RP). One such novel gene is ARL2BP (ARL2-binding protein) and is linked to RP and situs inversus (organ reversal) in humans, a phenotype produced by defects in the nodal cilia of developing embryos. Defects in photoreceptor cilia, as well as situs inversus in human patients, suggest that ARL2BP plays an invaluable role in the structure and function of cilia. However little is known about the role for this protein in the cilium. In this dissertation, I investigate the role for ARL2BP in cilia formation and function using a novel mouse model lacking ARL2BP, generated using CRISPR-Cas9 system. In Chapter 1 of my dissertation, I review the independent role for ARL2BP in cilia. In Chapter 2, the visual phenotype associated with loss of ARL2BP is described. I propose a model in which ARL2BP is required for the proper doublet microtubule structure that comprises the ciliary axoneme. In Chapter 3, I present my recent work demonstrating ARL2BP’s role in other ciliated tissues. My findings show that loss of ARL2BP causes an impairment in spermiogenesis, which was also observed in a human patient. In addition, the absence of ARL2BP is linked to situs inversus and ventriculomegaly. In Chapter 4, unpublished results are discussed, revealing the interacting partner of ARL2BP, and how this interaction fits into the regulation of doublet microtubule structure and maintenance. This work provides a strong groundwork for future investigations on ARL2BP and its involvement with its partners and cilia. These experiments will shed light on the function of ARL2BP and ultimately contribute to our understanding of cilia development, photoreceptor structure, and associated human diseases.