Document Detail


A deletion of the paracellin-1 gene is responsible for renal tubular dysplasia in cattle.
MedLine Citation:
PMID:  10995564     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
Y Ohba; H Kitagawa; K Kitoh; Y Sasaki; M Takami; Y Shinkai; T Kunieda
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Genomics     Volume:  68     ISSN:  0888-7543     ISO Abbreviation:  Genomics     Publication Date:  2000 Sep 
Date Detail:
Created Date:  2000-11-16     Completed Date:  2000-11-16     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  229-36     Citation Subset:  IM    
Copyright Information:
Copyright 2000 Academic Press.
Affiliation:
Faculty of Agriculture, Division of Veterinary Medicine, Gifu University, Yanagido, Gifu, 501-1193, Japan.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/AB035210
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MeSH Terms
Descriptor/Qualifier:
Amino Acid Sequence
Animals
Base Sequence
Cattle / abnormalities*
Cattle Diseases / genetics*
DNA Primers
Female
Humans
Japan
Kidney Diseases / genetics,  veterinary*
Kidney Tubules / abnormalities*
Linkage (Genetics)
Male
Membrane Proteins / genetics*
Molecular Sequence Data
Pedigree
Sequence Alignment
Sequence Deletion*
Sequence Homology, Amino Acid
Sequence Homology, Nucleic Acid
Tight Junctions / genetics
Chemical
Reg. No./Substance:
0/DNA Primers; 0/Membrane Proteins; 0/claudin 16

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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