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Hackmann, K, Markoff, A, Qian, F, Bogdanova, N, Germino, GG, Pennekamp, P, Dworniczak, B, Horst, J and Gerke, V (2005) A splice form of polycystin-2, lacking exon 7, does not interact with polycystin-1. Hum. Mol. Genet. 14:3249-62


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/Pkd2Delta6, PKD2/Pkd2Delta7 and PKD2/Pkd2Delta9, and one minor splice form, PKD2/Pkd2Delta12-13, numbered according to deleted exons or parts thereof. A transcript lacking exon 7 (PKD2/Pkd2Delta7) generated significantly altered protein variant. This polycystin-2Delta7 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). Pkd2Delta7 transcript was predominantly expressed in brain and amounted to 3-6.4% of Pkd2 transcripts in the relevant organ. Moreover, both Pkd2 and Pkd2Delta7 were developmentally regulated. Polycystin-2Delta7 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.


PubMed Online version:10.1093/hmg/ddi356


Alternative Splicing/genetics; Animals; Base Sequence; Blotting, Western; Brain/metabolism; Cell Line; DNA Primers; DNA, Complementary/genetics; Exons/genetics; Fluorescent Antibody Technique; Humans; Immunoprecipitation; Membrane Proteins/genetics; Membrane Proteins/metabolism; Mice; Models, Molecular; Molecular Sequence Data; Proteins/metabolism; Reverse Transcriptase Polymerase Chain Reaction; Sequence Analysis, DNA; TRPP Cation Channels



Gene product Qualifier GO ID GO term name Evidence Code with/from Aspect Notes Status

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