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Publication : Canine PKD1 is a single-copy gene: genomic organization and comparative analysis.

First Author  Dackowski WR Year  2002
Journal  Genomics Volume  80
Issue  1 Pages  105-12
PubMed ID  12079289 Mgi Jnum  J:77884
Mgi Id  MGI:2182859 Doi  10.1006/geno.2002.6804
Citation  Dackowski WR, et al. (2002) Canine PKD1 Is a Single-Copy Gene: Genomic Organization and Comparative Analysis. Genomics 80(1):105-12
abstractText  Most cases of autosomal dominant polycystic kidney disease are caused by mutations in the gene PKD1, encoding polycystin-1. To gain insight into the role of polycystin-1 in tubulogenesis and cystogenesis using the well-characterized canine kidney epithelial cell line MDCK, we have now cloned and characterized the exon/intron structure of the canine gene PKD1. FISH analysis showed that the dog genome lacks the multiple PKD1 homologs present in human. Intron 21 of dog PKD1 lacked the polypyrimidine tract characteristic of the human gene, whereas pyrimidine-rich elements were identified in canine intron 30. Canine polycystin-1 showed a higher degree of homology with the human counterpart and lower homology with mouse and rat. A striking degree of conservation (97% identity) was determined for the leucine-rich repeat domain between dog and human. Also, the homology analysis indicated that 4 of 16 Ig-like repeats (IgIII, IgVII, IgX, and IgXV) are likely to be functionally significant. This is particularly important in light of our recent findings demonstrating that Iglike domains form strong homophilic interactions and can mediate cell-cell adhesion. These data enable detailed analysis of the role of polycystin-1 in cystogenesis and tubulogenesis using the canine MDCK cell line. (c)2002 Elsevier Science (USA).
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