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Title: The Virtues of Self-Flagellation: Forward and Reverse Genetics to Probe the Roles of Motile Cilia in Vertebrate Development and Human Disease
Authors: Morante, Nicholas Morante
Advisors: Burdine, Rebecca D
Contributors: Molecular Biology Department
Keywords: Cilia
Primary ciliary dyskinesia
Subjects: Genetics
Molecular biology
Cellular biology
Issue Date: 2017
Publisher: Princeton, NJ : Princeton University
Abstract: Motile cilia are microtubule based cellular projections that are important for the generation of fluid flow and cell propulsion in many tissues in vertebrates. Cilia motility is critically important for mucociliary clearance in the respiratory tract, propulsion of sperm, and for the breaking of the left-right axis in many clades of vertebrates. However, other physiologically important roles for motile cilia in vertebrate development and organ system function are beginning to emerge. In this thesis, I will describe the characterization and mapping of two novel alleles of motile cilia genes, braciole and mew, the generation of several different mutant lines in the critical motile cilia genes daw1, dyx1c1, foxj1a, foxj1b, and kif6, and utilize these lines to probe the functionality of human disease alleles. Importantly, I will also describe the identification of a role for motile cilia in spine morphogenesis to maintain spine linearity; a novel morphogenetic process with important ramifications for understanding the poorly understood etiology of the most common spinal deformity in the world, idiopathic scoliosis. These findings provide several new animal models to understand the consequences of loss of motile cilia function in humans and open multiple avenues of investigation into the morphogenesis of the spine.
Alternate format: The Mudd Manuscript Library retains one bound copy of each dissertation. Search for these copies in the library's main catalog:
Type of Material: Academic dissertations (Ph.D.)
Language: en
Appears in Collections:Molecular Biology

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