Disease relevance of CLDN16

• Null mutation of PCLN-1/Claudin-16 results in bovine chronic interstitial nephritis [1].
• Renal tubular dysplasia is an autosomal recessively inherited disorder in Japanese black cattle that is due to deletion mutations in the claudin-16 gene and causes chronic renal failure and death of affected animals [2].

High impact information on CLDN16

• Focusing on chicken due to its expression of two galectins as a model for this approach, the combining-site architecture of the lectin from adult liver (CL-16) is apparently homologous to that previously observed for bovine galectin-1 (Solís, D., Jiménez-Barbero, J., Martín-Lomas, M., and Díaz-Mauriño, T. (1994) Eur. J. Biochem. 223, 107-114) [3].
• These results showed that the carrier rate of F11 deficiency was high in Japanese Black cattle, and that the CL-16 deficiency, hypogenesis syndrome, neonatal weak calf syndrome, and dams groups had a large amount of recessive homozygous genotype than the other groups [4].
• Abnormal development of nephrons in claudin-16-defective Japanese black cattle [5].
• Here, we report a multiplex-PCR procedure to determine the genotype for claudin-16 deficiency in preimplantation embryos [2].

Anatomical context of CLDN16

• Genetic diagnosis of claudin-16 deficiency and sex determination in bovine preimplantation embryos [2].

Analytical, diagnostic and therapeutic context of CLDN16

• When biopsied embryo cells were examined for claudin-16 deficiency, 97.2% of genotypes were consistent with the PCR results obtained for the corresponding embryos [2].

References