Witman Lab Publications


The Chlamydomonas Flagellum as a Model for Human Ciliary Disease

UMMS Affiliation

Program in Molecular Medicine; Department of Cell Biology

Publication Date


Document Type

Book Chapter


Chlamydomonas; Flagella; Cilia; Ciliary Motility Disorders


Cell and Developmental Biology | Cell Biology


Studies in Chlamydomonas have illuminated the basic biology of many ciliary and basal body proteins involved in human diseases and developmental disorders, including PCD, hydrocephalus, epilepsy, situs inversus, and PKD. This chapter reviews past work on Chlamydomonas that has provided important insights into these diseases, and discusses additional diseases for which Chlamydomonas has the potential to be very informative in the future. Frequently, the human genes causing a disease have been identified by positional cloning, and the proteins they encode have been shown to be localized to cilia or basal bodies by immunofluorescence microscopy, but the functions of the proteins are understood poorly or not at all.ChlamydomonasIn many of these cases, Chlamydomonas offers the best opportunity for a detailed analysis that could lead to an understanding of the basic biology of the human disease protein. Diseases associated with them usually involve defects in the ciliary assembly machinery or ciliary signaling. These diseases include polycystic kidney disease (PKD), retinal degeneration and blindness, and several syndromes that usually involve kidney disease and/or blindness plus other symptoms. These diseases are explained in detail. Genomic stability is dependent on correct centriole duplication and function and control of the cell cycle may involve the primary cilium, so defects in cilia and basal bodies/centrioles also may lead to cancer, which is also covered here.

DOI of Published Version



Pazour, G. J. and G. B. Witman. 2009. The Chlamydomonas flagellum as a model for human ciliary disease. In: The Chlamydomonas Sourcebook. Vol. 3. Cell Motility and Behavior (ed. G. B. Witman). Elsevier, New York, NY. pp. 445-478. DOI 10.1016/B978-0-12-370873-1.00052-6. Link to article on publisher's website A partial preview of this chapter is available via Google Books.

Journal/Book/Conference Title

The Chlamydomonas Sourcebook