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PKD1 interacts with PKD2 through a probable coiled-coil domain.

Abstract：

:Autosomal dominant polycystic kidney disease (ADPKD) describes a group of at least three genetically distinct disorders with almost identical clinical features that collectively affects 1:1,000 of the population. Affected individuals typically develop large cystic kidneys and approximately one half develop end-stage renal disease by their seventh decade. It has been suggested that the diseases result from defects in interactive factors involved in a common pathway. The recent discovery of the genes for the two most common forms of ADPKD has provided an opportunity to test this hypothesis. We describe a previously unrecognized coiled-coil domain within the C terminus of the PKD1 gene product, polycystin, and demonstrate that it binds specifically to the C terminus of PKD2. Homotypic interactions involving the C terminus of each are also demonstrated. We show that naturally occurring pathogenic mutations of PKD1 and PKD2 disrupt their associations. We have characterized the structural basis of their heterotypic interactions by deletional and site-specific mutagenesis. Our data suggest that PKD1 and PKD2 associate physically in vivo and may be partners of a common signalling cascade involved in tubular morphogenesis.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Qian F,Germino FJ,Cai Y,Zhang X,Somlo S,Germino GG

doi

10.1038/ng0697-179

subject

Has Abstract

pub_date

1997-06-01 00:00:00

pages

179-83

issue

2

eissn

1061-4036

issn

1546-1718

journal_volume

16

pub_type

杂志文章

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