title: A deletion of the paracellin-1 gene is responsible for renal tubular dysplasia in cattle.
abstract: Various hereditary diseases analogous to particular human 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 microsatellite 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.
authors.affiliation: Faculty of Agriculture, Division of Veterinary Medicine, Gifu University, Yanagido, Gifu, 501-1193, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Ohba
authors.forename: H
authors.initials: H
authors.lastname: Kitagawa
authors.forename: K
authors.initials: K
authors.lastname: Kitoh
authors.forename: Y
authors.initials: Y
authors.lastname: Sasaki
authors.forename: M
authors.initials: M
authors.lastname: Takami
authors.forename: Y
authors.initials: Y
authors.lastname: Shinkai
authors.forename: T
authors.initials: T
authors.lastname: Kunieda
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002417:Cattle / Q000002:abnormalities*; D002418:Cattle Diseases / Q000235:genetics*; D057167:Claudins; D017931:DNA Primers; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007564:Japan; D007674:Kidney Diseases / Q000235:genetics / Q000662:veterinary*; D007684:Kidney Tubules / Q000002:abnormalities*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D010375:Pedigree; D016415:Sequence Alignment; D017384:Sequence Deletion; D017386:Sequence Homology, Amino Acid; D012689:Sequence Homology, Nucleic Acid; D019108:Tight Junctions / Q000235:genetics
chemical_list: D057167:Claudins; D017931:DNA Primers; D008565:Membrane Proteins; C502010:claudin 16