Journal Article

A splice form of polycystin-2, lacking exon 7, does not interact with polycystin-1

Karl Hackmann, Arseni Markoff, Feng Qian, Nadia Bogdanova, Gregory G. Germino, Petra Pennekamp, Bernd Dworniczak, Jürgen Horst and Volker Gerke

in Human Molecular Genetics

Volume 14, issue 21, pages 3249-3262
Published in print November 2005 | ISSN: 0964-6906
Published online September 2005 | e-ISSN: 1460-2083 | DOI:
A splice form of polycystin-2, lacking exon 7, does not interact with polycystin-1

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Polycystin-2 (or polycystic kidney disease gene 2 product, PKD2) and its homologues are calcium-regulated ion channels. Mutations in PKD2 are causative for autosomal dominant polycystic kidney disease. Alternative splicing has been documented for the ‘PKD2-like’ genes as a naturally occurring event and for PKD2 in pathologic context. Here we studied naturally occurring PKD2/Pkd2 (human/murine) splice forms on the mRNA and protein levels. Systematic scanning of PKD2/Pkd2 cDNAs obtained through RT–PCR from murine tissues and human cell lines revealed alternative splice forms that were sequenced and checked for translation. We identified three major alternative transcripts of PKD2/Pkd2, PKD2/Pkd2Δ6, PKD2/Pkd2Δ7 and PKD2/Pkd2Δ9, and one minor splice form, PKD2/Pkd2Δ12−13, numbered according to deleted exons or parts thereof. A transcript lacking exon 7 (PKD2/Pkd2Δ7) generated significantly altered protein variant. This polycystin-2Δ7 protein appeared stable, when expressed in cell culture and apparently did not interact with polycyctin-1, which should be due to the reversed topology (extracellular) of the interacting C-terminus (intracellular in polycystin-2). Pkd2Δ7 transcript was predominantly expressed in brain and amounted to 3–6.4% of Pkd2 transcripts in the relevant organ. Moreover, both Pkd2 and Pkd2Δ7 were developmentally regulated. Polycystin-2Δ7 adds on to the number of identified polycystin molecules. The predominant expression in brain indicates a function in this organ. The inability to interact with polycystin-1 expands further the PKD1-independent functions of polycystin-2 forms.

Journal Article.  7960 words.  Illustrated.

Subjects: Genetics and Genomics

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