A deletion of the paracellin-1 gene is responsible for renal tubular dysplasia in cattle

Yasunori Ohba, Hitoshi Kitagawa, Katsuya Kitoh, Yoshihide Sasaki, Marika Takami, Yusuke Shinkai, Tetsuo Kunieda

    研究成果査読

    77 被引用数 (Scopus)

    抄録

    Various hereditary diseases analogous to particular hman heritable diseases have been identified in cattle. Investigation of these cattle diseases will provide useful information regarding the pathogenesis of the corresponding human diseases. Renal tubular dysplasia is an autosomal recessive disease of Japanese black cattle characterized by renal failure and growth retardation. We have previously mapped the locus responsible for the disease within a region on bovine chromosome 1. In the present study, we further typed additional markers in this region and found that a genomic segment of bovine chromosome 1 including the microsattelite marker BMS4009 was deleted in the affected animals. Construction of a physical map covering this region with BAC clones and comparison of the nucleotide sequences of this region between normal and affected animals revealed that a region of 37 kb including exons 1 to 4 of the bovine paracellin-1 gene was deleted in the affected animals. The paracellin-1 gene, which is the causative gene for human renal hypomagnesemia with hypercaciuria and nephrocalcinosis, encodes a tight junction protein of renal epithelial cells. Therefore, we concluded that deletion of the paracellin-1 gene is responsible for renal tubular dysplasia of cattle, and the cattle disease could be a good model for the human disease. (C) 2000 Academic Press.

    本文言語English
    ページ(範囲)229-236
    ページ数8
    ジャーナルGenomics
    68
    3
    DOI
    出版ステータスPublished - 9月 15 2000

    ASJC Scopus subject areas

    • 遺伝学

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