Characterization of the murine polycystic kidney disease (Pkd2) gene |
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| Authors: | P Pennekamp N Bogdanova M Wilda A Markoff H Hameister J Horst B Dworniczak |
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| Institution: | Institut für Humangenetik, Westf?lische Wilhelms-Universit?t Muenster, Vesaliusweg 12-14, 48149 Münster, Germany, DE
Abteilung medizinische Genetik der Universit?t Ulm, Albert-Einstein-Allee 11, 89069 Ulm, Germany, DE
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| Abstract: | Autosomal dominant polycystic kidney disease (ADPKD) is one of the most frequent genetically transmitted disorders among
Europeans with an attributed frequency of 0.1%. The two most common genetic determinants for ADPKD are the PKD1 and PKD2 genes.
In this study we report the genomic structure and pattern of expression of the Pkd2 gene, the murine homolog of the human PKD2 gene. Pkd2 is localized on mouse Chromosome (Chr) 5 proximal to anchor marker D5Mit175, spans at least 35 kb of the mouse genome, and consists of 15 exons. Its translation product consists of 966 amino acids,
and the peptide shows a 95% homology to human polycystin2. Functional domains are particularly well conserved in the mouse
homolog. The expression of mouse polycystin2 in the developing embryo at day 12.5 post conception is localized in mesenchymally
derived structures. In the adult mouse, the protein is mostly expressed in kidney, which suggests its functional relevance
for this organ.
Received: 13 March 1998 / Accepted: 11 May 1998 |
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