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    
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.
Y Ohba; H Kitagawa; K Kitoh; Y Sasaki; M Takami; Y Shinkai; T Kunieda
Related Documents :
17179414 - Microsatellite marker-based genetic analysis of relatedness between commercial and heri...
14985974 - General and specific combining ability from partial diallels of radiata pine: implicati...
17009104 - Phylogenetic relationships among indigenous sheep populations in east asia based on fiv...
8552604 - The estrogen receptor locus is associated with a major gene influencing litter size in ...
24365584 - Association between il12b polymorphisms and tuberculosis risk: a meta-analysis.
19202204 - Mutation analysis of the cftr gene in slovak cystic fibrosis patients by dhplc and subs...
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.
Faculty of Agriculture, Division of Veterinary Medicine, Gifu University, Yanagido, Gifu, 501-1193, Japan.
Data Bank Information
Bank Name/Acc. No.:
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Amino Acid Sequence
Base Sequence
Cattle / abnormalities*
Cattle Diseases / genetics*
DNA Primers
Kidney Diseases / genetics,  veterinary*
Kidney Tubules / abnormalities*
Linkage (Genetics)
Membrane Proteins / genetics*
Molecular Sequence Data
Sequence Alignment
Sequence Deletion*
Sequence Homology, Amino Acid
Sequence Homology, Nucleic Acid
Tight Junctions / genetics
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

Previous Document:  N -methyl- D -aspartate (NMDA) induced apoptosis in adult rabbit retinas.
Next Document:  Modeling the feasibility of whole genome shotgun sequencing using a pairwise end strategy.