The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney
Abstract
Polycystic kidney disease (PKD) is a common human genetic illness. It is characterized by the formation of multiple kidney cysts that are thought to result from over-proliferation of epithelial cells. Zebrafish larvae can also develop kidney cysts. In an insertional mutagenesis screen in zebrafish, we identified 12 genes that can cause cysts in the glomerular-tubular region when mutated and we cloned 10 of these genes. Two of these genes, vhnf1(tcf2) and pkd2, are already associated with human cystic kidney diseases. Recently, defects in primary cilia have been linked to PKD. Strikingly, three out of the 10 genes cloned in this screen are homologues of Chlamydomonas genes that encode components of intraflagellar transport (IFT) particles involved in cilia formation. Mutation in a fourth blocks ciliary assembly by an unknown mechanism. These results provide compelling support for the connection between cilia and cystogenesis. Our results also suggest that lesions in genes involved in cilia formation and function are the predominant cause of cystic kidney disease, and that the genes identified here are excellent candidates for novel human PKD genes.
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Cites
Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells
Nauli, S. M., Alenghat, F. J., Luo, Y., Williams, E., Vassilev, P., Li, X., Elia, A. E. H., Lu, W., Brown, E. M., Quinn, S. J., et al. (2003) · Nature Genetics · doi:10.1038/ng1076 · Cited by 2,057
Pazour, G. J., Dickert, B. L., Vucica, Y., Seeley, E. S., Rosenbaum, J. L., Witman, G. B., & Cole, D. G. (2000) · The Journal of Cell Biology · doi:10.1083/jcb.151.3.709 · Cited by 1,147
Self-citationA motility in the eukaryotic flagellum unrelated to flagellar beating.
Kozminski, K. G., Johnson, K. A., Forscher, P., & Rosenbaum, J. L. (1993) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.90.12.5519 · Cited by 1,007
Cole, D. G., Diener, D. R., Himelblau, A. L., Beech, P. L., Fuster, J. C., & Rosenbaum, J. L. (1998) · The Journal of Cell Biology · doi:10.1083/jcb.141.4.993 · Cited by 898
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Cited by
Autosomal dominant polycystic kidney disease
Torres, V. E., Harris, P. C., & Pirson, Y. (2007) · The Lancet · doi:10.1016/s0140-6736(07)60601-1 · Cited by 1,550
Chapter Two Intraflagellar Transport (IFT)
Pedersen, L. B., & Rosenbaum, J. L. (2008) · Current Topics in Developmental Biology · doi:10.1016/s0070-2153(08)00802-8 · Cited by 521
MEC-17 is an α-tubulin acetyltransferase
Akella, J. S., Wloga, D., Kim, J., Starostina, N. G., Lyons-Abbott, S., Morrissette, N. S., Dougan, S. T., Kipreos, E. T., & Gaertig, J. (2010) · Nature · doi:10.1038/nature09324 · Cited by 489
Svärd, J., Henricson, K. H., Persson-Lek, M., Rozell, B., Lauth, M., Bergström, Å., Ericson, J., Toftgård, R., & Teglund, S. (2006) · Developmental Cell · doi:10.1016/j.devcel.2005.12.013 · Cited by 468
αTAT1 is the major α-tubulin acetyltransferase in mice
Kalebic, N., Sorrentino, S., Perlas, E., Bolasco, G., Martinez, C., & Heppenstall, P. A. (2013) · Nature Communications · doi:10.1038/ncomms2962 · Cited by 241
Metadata
- Authors
- Sun, Z., Amsterdam, A., Pazour, G. J., Cole, D. G., Miller, M. S., & Hopkins, N.
- Venue
- Development
- Publisher
- The Company of Biologists
- Published
- 2004-08-15
- Volume
- 131
- Issue
- 16
- Pages
- 4085-4093
- ISSN
- 0950-1991 (ISSN-L)
- 1477-9129
- OpenAlex
- W2060970598
- Cited by
- 528
- References
- 4
- FWCI
- 16.33
- Type
- journal article
- Language
- en
- Open access
- closed
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- Sun, Z., Amsterdam, A., Pazour, G. J., Cole, D. G., Miller, M. S., & Hopkins, N. (2004). A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney. Development. https://doi.org/10.1242/dev.01240
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