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Human Molecular Genetics Advance Access published online on September 28, 2005
Human Molecular Genetics, doi:10.1093/hmg/ddi356
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© The Author 2005. Published by Oxford University Press. All rights reserved
Received July 27, 2005
Revised September 21, 2005
Accepted September 21, 2005

Article

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

Karl Hackmann 1, Arseni Markoff 2*, Feng Qian 3, Nadia Bogdanova 1, Gregory G. Germino 3, Petra Pennekamp 1, Bernd Dworniczak 1, Jürgen Horst 1, and Volker Gerke 2

1 Institut für Humangenetik, Universitätsklinikum Münster, Germany
2 Institut für Medizinische Biochemie, ZMBE, Westfälische Wilhelms-Universität Münster, Germany
3 Department of Medicine, Division of Nephrology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA

* To whom correspondence should be addressed.
Arseni Markoff, E-mail: markoff{at}uni-muenster.de


  Abstract

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 (ADPKD). 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/Pkd2{Delta}6, PKD2/Pkd2{Delta}7 and PKD2/Pkd2{Delta}9 and one minor splice form, PKD2/Pkd2{Delta}12-13, numbered according to deleted exons or parts thereof. A transcript lacking exon 7 (PKD2/Pkd2{Delta}7 generated significantly altered protein variant. This polycystin-2{Delta}7 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).

Pkd2{Delta}7 transcript was predominantly expressed in brain and amounted to 3-6.4% of Pkd2 transcripts in the relevant organ. Moreover, Pkd2 and Pkd2{Delta}7 were both developmentally regulated.

Polycystin-2{Delta}7 adds on to the number of identified polycystin molecules. The predominant expression in brain indicates suggests a function in this organ. The inability to interact with polycystin-1 expands further the PKD1-independent functions of polycystin-2 forms.


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[Abstract] [Full Text] [PDF]


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