RT Journal
A1 Hirano, Takashi
A1 Kobayashi, Naohiko
A1 Itoh, Tomohito
A1 Takasuga, Akiko
A1 Nakamaru, Teruhiko
A1 Hirotsune, Shinji
A1 Sugimoto, Yoshikazu
T1 Null Mutation of PCLN-1/Claudin-16 Results in Bovine Chronic Interstitial Nephritis
JF Genome Research 
JO Genome Research 
YR 2000 
FD May 01 
VO 10 
IS 5 
SP 659 
OP 663 
DO 10.1101/gr.10.5.659 
UL http://genome.cshlp.org/content/10/5/659.abstract 
AB 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-16was 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.[The CL-16cDNA sequence has been deposited at GenBank under accession no. AB030082.]