BS: 1986, South Dakota State University
PhD: 1991, University of Minnesota
Post Doctoral Studies: Worcester Foundation for Biomedical Research
Function of the Mammalian Primary Cilium and Mechanisms of Eukaryotic Ciliary Assembly
The Pazour lab is interested in understanding the mechanism for assembly of eukaryotic cilia and the function that these organelles play in vertebrate health and development. Across the eukaryotic kingdom, cilia function to produce force for cell motility and serve as cellular antennae allowing cells to sense the environment. In vertebrates, cilia play critical roles in development by establishing the left-right pattern of organ development and in organizing hedgehog and other signaling pathways. Ciliary dysfunction leads to a spectrum of structural birth defects affecting every organ of the body. In addition, our senses of sight and smell utilize ciliary localized receptors and thus ciliary defects can lead to anosmia and blindness. Post development, cilia play critical roles in tissue homeostasis and ciliary dysfunction causes a number of serious adult onset diseases including polycystic kidney disease, obesity and cancers such as medulloblastoma and basal cell carcinoma.
In the kidney, the epithelial cells of uriniferous tubule have prominent primary cilia extending from their apical surface into the lumen. The precise function of the cilia is unknown but they are thought to monitor the tubule diameter. If the cilia are defective, the tubule epithelial cell over proliferate and transform the normally narrow-lumen tubule into a large cyst. For more information see "Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene Tg737, are required for assembly of cilia and flagella"
In the heart, cilia (green in the image below) play critical roles in left-right patterning and hedgehog signaling. Ciliary dysfunction causes severe structural cardiac malformations and is thought to be a major cause of structural heart disease in the human population. For more information see "Global genetic analysis in mice unveils central role for cilia in congenital heart disease"