| First Author | Hirano T | Year | 2000 |
| Journal | Genome Res | Volume | 10 |
| Issue | 5 | Pages | 659-63 |
| PubMed ID | 10810088 | Mgi Jnum | J:62301 |
| Mgi Id | MGI:1858700 | Doi | 10.1101/gr.10.5.659 |
| Citation | Hirano T, et al. (2000) Null mutation of PCLN-1/Claudin-16 results in bovine chronic interstitial nephritis. Genome Res 10(5):659-63 |
| abstractText | Inherited chronic renal diseases are associated with failures in glomerular filtration and tubular resorption. Such failures invariably result from defects in selective filtration and absorption in surface renal epithelium. Recently, we described an autosomal recessive chronic interstitial nephritis with diffuse zonal fibrosis (CINF) in cattle. Bovine CINF, characterized by increased blood urea nitrogen, creatinine, and urinary proteins, leads to lethality before puberty, usually within the first 6 months or year of life. Here, we demonstrate that the first four exons of PCLN-1/Claudin-16 (CL-16), which encodes a member of the claudin family of tight junction proteins, were deleted in CINF-affected cattle. CL-16 was expressed preferentially in kidneys of normal cattle, but transcripts were totally absent in affected offspring. This observation suggests that the lack of CL-16 protein contributes to the dysfunction of paracellular renal transport systems. |
