Hereditary and Clinico-pathological Examinations of PCLN-1/Claudin-16 Deficiency in Japanese Black Cattle in the Touhoku Region

Watanabe, Daisaku; A, Bán; Takahashi, M.; Ishikawa, H.; Watanabe, Alexandra Sayuri; Yamanobe, H.; Tunokane, S.; Fujimori, K; Miyake, Yohei; Okada, Kōsuke; Otsuka, Hisanori; Oguro, M; Kawamura, Shuji; Hirano, Takashi; Sugimoto, Yoshikazu; S, Abe; Saito, Hiroshige

doi:10.4190/jjvc2001.25.1

Cited by 3 publications

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“…The claudin 16 (CL-16) defective in Japanese Black cattle is a hereditary disease that causes severe renal failure, growth retardation, and overgrowth of hooves in young animals [5,23]. It is also known as "renal tubular dysplasia in Japanese Black cattle" [13][14][15][16][17] or "bovine chronic interstitial nephritis with diffuse zonal fibrosis" [5,8].…”

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Abnormal Development of Nephrons in <i>Claudin-16</i>- Defective Japanese Black Cattle

Okada

Ishikawa

Fujimori

et al. 2005

The Journal of Veterinary Medical Science

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ABSTRACT. The kidneys of 37 Japanese Black calves aged 2 to 65 months diagnosed with Claudin 16 (CL-16) defect by the DNA-based test were examined pathologically. The animals exhibited clinical symptoms such as growth impairment, renal failure, overgrowth of hooves, and anemia at a young age. There was no correlation between the time of onset and age. Kidney weights relative to body weight were similar to those in normal animals, but both kidney net weights and size were reduced due to atrophy in animals that showed severe renal dysfunction. Histopathological examination of the kidneys showed reduction in the number of glomeruli, compensatory hypertrophy of glomeruli and tubules, and glomerular and tubular atrophy accompanied by interstitial fibrosis and lymphocytic infiltration. Glomeruli were clearly less in number in the kidneys of CL-16-defective animals than those of normal animals even in the cases with mild lesions. A small number of immature glomeruli and tubules were also detected, suggesting that there were fewer nephrons developed at birth in CL-16 -defective animals. It was suggested that a defect of the CL-16 gene is involved in the "abnormal development of nephrons". Immunohistopathological examination of the kidneys showed that the epithelium of thick ascending limb of Henle was stained with anti-CL-16 antibody in the control animals, but not in the affected animals, suggesting a defect of CL-16 in the epithelium of renal tubules in the affected animals. KEY WORDS: abnormal development, Claudin 16, Japanese Black cattle, nephrons, Paracellin-1.

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Abnormal Development of Nephrons in <i>Claudin-16</i>- Defective Japanese Black Cattle

Okada

Ishikawa

Fujimori

et al. 2005

The Journal of Veterinary Medical Science

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“…This syndrome manifests itself in calves as increased bleeding tendency, abnormal granules in leukocytes, decreased number of dense granules in platelets and partial albinism (Tu et al, 1996). Claudin-16 deficiency is also a recessive genetic defect and is known to cause renal failure (Kobayashi et al, 2000;Sasaki et al, 2002;Watanabe et al, 2002).…”

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Economic implications of using Japanese Black sires carrying recessive genes associated with genetic defects

Nishio

Kahi

Hirooka

2008

Animal

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The objective of this study was to calculate cumulative discounted expressions (CDE) for Japanese Black sires carrying a single defective allele in a herd by applying the gene-flow method to investigate the expression pattern of homozygous recessive genotype and to evaluate the monetary loss of using these sires. A single biallelic locus was considered with A representing the dominant allele and a representing the recessive allele. The gene-flow method was modified to consider the fitness of homozygous recessive genotype. Input parameters representing a typical situation in a Japanese Black cattle herd were used to calculate the CDE and the loss of using carrier sires. The effects of initial allele frequency and fitness on the CDE were determined for Aa and AA sires. The CDE of Aa sires were larger than those of AA sires under all initial allele frequencies and fitness. The difference in the CDE between using Aa and AA sires was largest when fitness was 0 (lethal recessive condition). The differences in the loss between Aa and AA sires were larger with increasing initial allele frequencies in lethal recessive condition. Applying the method used in this study to defects reported in Japanese Black cattle and with a population size of 628 000, the difference in the loss between using Aa and AA sires was US$48 575 800 and US$74 418 000 in the case of Band-3 and Claudin-16 deficiencies, respectively. The approach used in this study could be applied to other genetic defects in different breeds and species.

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Carrier Rate of Factor XI Deficiency in Stunted Japanese Black Cattle

Watanabe

Hirano²,

Sugimoto³

et al. 2006

The Journal of Veterinary Medical Science

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ABSTRACT. Blood examinations and genotyping of Factor XI (F11) were performed in growth retardation Japanese Black cattle and their dams. Genotyping of F11 revealed that the recessive homozygous and heterozygous genotype frequencies were 5.2% and 50.0% in the Claudin-16 (CL-16) deficiency group (n=58), 0% and 14.2% in the renal dysplasia group (n=7), 0% and 26.1% in the non-CL-16 deficiency nephritis group (n=23), 8.9% and 46.7% in the hypogenesis syndrome group (n=45), 6.2% and 25.0% in the neonatal weak calf syndrome group (n=32), 9.1% and 38.6% in the respective dams group (n=44), 0% and 23.1% in the normal cattle group (n=13), and 5.9% and 38.2% in total (n=222), respectively. 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. No abnormal bleeding was observed clinically in the present study, and 4 of the recessive homozygous dams showed normal growth and parturition.

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Hereditary and Clinico-pathological Examinations of PCLN-1/Claudin-16 Deficiency in Japanese Black Cattle in the Touhoku Region

Abstract: A total of 110 Japanese Black cattle, diagnosed with Claudin-16 (CL-16) deficiency by DNA test between June 1999 and June 2001, were studied.

Cited by 3 publications

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Abnormal Development of Nephrons in <i>Claudin-16</i>- Defective Japanese Black Cattle

Abnormal Development of Nephrons in <i>Claudin-16</i>- Defective Japanese Black Cattle

Economic implications of using Japanese Black sires carrying recessive genes associated with genetic defects

Carrier Rate of Factor XI Deficiency in Stunted Japanese Black Cattle

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