PMC:4157146 / 27164-28631 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4157146","sourcedb":"PMC","sourceid":"4157146","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4157146","text":"The evolutionarily conserved role of CCDC151 in vertebrate cilia was verified by examination of zebrafish flanders mutants. ccdc151ts272a (flanders) was generated in the Tübingen ENU mutagenesis screen.56 flanders mutants present morphologically with a ventral body curvature and kidney cysts (Figure 2A), characteristic of mutations that affect ciliary motility in zebrafish. We mapped the flanders mutation to a 2.4 Mb region on chromosome 6 and sequenced exons from candidate genes in this region. A c.631T\u003eA substitution was discovered in exon 6 of ccdc151 (RefSeq NM_001077369.2) that is predicted to introduce a premature stop codon at lysine 211 of the 545 amino acid protein (p.Lys211∗) (Figure 2B). Consistent with what was previously reported,54 whole mount in situ hybridization (WISH) analysis identified ccdc151 expression restricted to tissues that contain motile cilia in zebrafish including the left-right organizer (Kupffer’s vesicle [KV]), the otic vesicle, and the pronephric tubules (Figure 2C). Further support that ccdc151 is the gene mutated in flanders was provided by in situ hybridization showing evidence for nonsense-mediated decay of the transcript in embryos genotyped as mutant, which entirely lacked expression (Figure 2D). In addition, the flanders phenotype could be rescued by injection of ccdc151 RNA (Figure S2), and a phenocopy of the flanders mutant phenotype was generated by antisense morpholino injection (Figures S2 and S3).","tracks":[{"project":"2_test","denotations":[{"id":"25192045-9007226-2045890","span":{"begin":202,"end":204},"obj":"9007226"},{"id":"25192045-24067530-2045891","span":{"begin":753,"end":755},"obj":"24067530"}],"attributes":[{"subj":"25192045-9007226-2045890","pred":"source","obj":"2_test"},{"subj":"25192045-24067530-2045891","pred":"source","obj":"2_test"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"2_test","color":"#93e9ec","default":true}]}]}}