English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

Mutation of the  Cys1  gene underlies the renal cystic disease in the  Cys1   cpk/cpk   ( cpk ) mouse that phenocopies human autosomal recessive polycystic kidney disease (ARPKD). Cystin, the protein product of  Cys1 , is expressed in the primary apical cilia of renal ductal epithelial cells. In previous studies, we showed that cystin regulates  Myc  expression via interaction with the tumor suppressor, necdin. Here, we demonstrate rescue of the  cpk  renal phenotype by kidney-specific expression of a cystin-GFP fusion protein encoded by a transgene integrated into the  Rosa26  locus. In addition, we show that expression of the cystin-GFP fusion protein in collecting duct cells down-regulates expression of  Myc  in  cpk  kidneys. Finally, we report the first human patient with an ARPKD phenotype due to homozygosity for a deleterious splicing variant in  CYS1 . These findings suggest that mutations in  Cys1 / CYS1  cause an ARPKD phenotype in mouse and human, respectively, and that the renal cystic phenotype in the mouse is driven by overexpression of the  Myc  proto-oncogene.

Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression