Phenotype Details
Phene ID
2554
Name
Renal dysplasia
Phene Name
Renal tubular dysplasia (RTD); Chronic interstitial nephritis with diffuse zonal fibrosis (CINF)
OMIA ID
1135
Species ID
9913
Characterised
Yes
Characterised Year
2000
Linked Genes
SymbolGene IDChromosomeDescription
CLDN162821841claudin 16
Linked Variants
Variant IDPhenotypeGene IDDeleteriousChromosomeGenomicTranscriptProtein
648Renal dysplasia28218411N/AN/AN/A
781Renal dysplasia28218411N/AN/AN/A
Linked Breeds
BreedBreed IDSpecies IDVBO Term
Japanese Black, Japan (Cattle)319913http://purl.obolibrary.org/obo/VBO_0004987
Molecular Genetics

Building on the mapping results of Kobayashi et al. (2000) (see Mapping section above), Hirano et al. (2000) did some further fine mapping, and then constructed a cosmid library of the fine-mapped region of BTA1, and then used the best cosmid clone as a probe of kidney cDNA from normal and affected animals, identifying a single cDNA, which, when sequenced, turned out to be the bovine paracellin-1 gene, which they called Claudin-16, and which lacked exons 1-4 in affected animals. Independently, and building on the mapping results of Ohba et al. (2000; Mammalian Genome 11:316-319), Ohba et al. (2000; Genomics 68:229-236) did some further fine mapping and physical mapping of the region, and then identified and sequenced their comparative positional candidate gene, paracellin-1, revealing "a region of 37 kb including exons 1 to 4 of the bovine paracellin-1 gene was deleted in the affected animals". Thus both groups arrived at the same result at around the same time: the former paper was published in May 2000, and the latter in September 2000.

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