| Citation | Chen N, Mah A, Blacque OE, Chu J, Phgora K, Bakhoum MW, Newbury RH, Khattra J, Chan S, Go A, Efimenko E, Johnsen R, Phirke P, Swoboda P, Marra M, Moerman DG, Leroux MR, Baillie DL, Stein LD. Identification of ciliary and ciliopathy genes in Caenorhabditis elegans through comparative genomics. Genome Biol, 2006. |
| PubMed ID | 17187676 |
| Short Description | Identification of ciliary and ciliopathy genes in Caenorhabditis elegans through comparative genomics. GEO Record: GSE6563 Platform: GPL200 Download gene-centric, log2 transformed data: WBPaper00028949.ce.mr.csv |
| # of Conditions | 4 |
Full Description
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ABSTRACT: BACKGROUND: The recent availability of genome sequences of multiple related Caenorhabditis species has made it possible to identify, using comparative genomics, similarly transcribed genes in Caenorhabditis elegans and its sister species. Taking this approach, we have identified numerous novel ciliary genes in C. elegans, some of which may be orthologs of unidentified human ciliopathy genes. RESULTS: By screening for genes possessing canonical X-box sequences in promoters of three Caenorhabditis species, namely C. elegans, C. briggsae and C. remanei, we identified 93 genes (including known X-box regulated genes) that encode putative components of ciliated neurons in C. elegans and are subject to the same regulatory control. For many of these genes, restricted anatomical expression in ciliated cells was confirmed, and control of transcription by the ciliogenic DAF-19 RFX transcription factor was demonstrated by comparative transcriptional profiling of daf-19(+) and daf 19(-) animals. Finally, we demonstrate that the dye-filling defect of dyf-5 (mn400) animals, which is indicative of compromised exposure of cilia to the environment, is caused by a nonsense mutation in the serine/threonine protein kinase gene M04C9.5. CONCLUSION: Our comparative genomics-based predictions may be useful for identifying genes involved in human ciliopathies, including Bardet-Biedl Syndrome (BBS), since the C. elegans orthologs of known human BBS genes contain X-box motifs and are required for normal dye filling in C. elegans ciliated neurons. Experimental Details: WBPaper00028949:daf-12(sa204)_rep1 WBPaper00028949:daf-12(sa204)_rep2 WBPaper00028949:daf-19(m86)_daf-12(sa204)_rep1 WBPaper00028949:daf-19(m86)_daf-12(sa204)_rep2. |
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