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Vol. 12, Issue 3, 589-599, March 2001
and
*Department of Cell Biology, University of Alabama at Birmingham,
Birmingham, Alabama 35294; Mutations in Tg737 cause a wide spectrum of
phenotypes, including random left-right axis specification, polycystic
kidney disease, liver and pancreatic defects, hydrocephalus, and
skeletal patterning abnormalities. To further assess the biological
function of Tg737 and its role in the mutant pathology,
we identified the cell population expressing Tg737 and
determined the subcellular localization of its protein product called
Polaris. Tg737 expression is associated with cells
possessing either motile or immotile cilia and sperm. Similarly,
Polaris concentrated just below the apical membrane in the region of
the basal bodies and within the cilia or flagellar axoneme. The data
suggest that Polaris functions in a ciliogenic pathway or in cilia
maintenance, a role supported by the loss of cilia on the ependymal
cell layer in ventricles of Tg737orpk brains
and by the lack of node cilia in
Tg737Department of Medicine,
University of Alabama at Birmingham, Birmingham, Alabama 35294; and
Birmingham Veterans Affairs Medical Center, Birmingham,
Alabama 35294
2-3
Gal mutants.
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Y. J. Zhang, W. K. O'Neal, S. H. Randell, K. Blackburn, M. B. Moyer, R. C. Boucher, and L. E. Ostrowski Identification of Dynein Heavy Chain 7 as an Inner Arm Component of Human Cilia That Is Synthesized but Not Assembled in a Case of Primary Ciliary Dyskinesia J. Biol. Chem., May 10, 2002; 277(20): 17906 - 17915. [Abstract] [Full Text] [PDF]
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G. J. Pazour, S. A. Baker, J. A. Deane, D. G. Cole, B. L. Dickert, J. L. Rosenbaum, G. B. Witman, and J. C. Besharse The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance J. Cell Biol., April 1, 2002; 157(1): 103 - 114. [Abstract] [Full Text] [PDF]
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I. Ibanez-Tallon, S. Gorokhova, and N. Heintz Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus Hum. Mol. Genet., March 1, 2002; 11(6): 715 - 721. [Abstract] [Full Text] [PDF]
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B. K. Yoder, A. Tousson, L. Millican, J. H. Wu, C. E. Bugg Jr., J. A. Schafer, and D. F. Balkovetz Polaris, a protein disrupted in orpk mutant mice, is required for assembly of renal cilium Am J Physiol Renal Physiol, March 1, 2002; 282(3): F541 - F552. [Abstract] [Full Text] [PDF]
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G. J. Pazour, S. A. Baker, J. A. Deane, D. G. Cole, B. L. Dickert, J. L. Rosenbaum, G. B. Witman, and J. C. Besharse The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance J. Cell Biol., April 1, 2002; 157(1): 103 - 114. [Abstract] [Full Text] [PDF]
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