Transcriptional profiling of renal cells expressing wild type or mutant uromodulin isoforms.. Mus musculus

Uromodulin is the most abundant urinary protein. It is exclusively produced and released in the urine by renal epithelial cells lining the thick ascending limb of Henle’s loop (TAL). Mutations in UMOD, the gene encoding uromodulin, cause autosomal dominant tubulointerstitial kidney disease uromodulin-related (ADTKD-UMOD). While the primary effect of all mutations, retention in the endoplasmic reticulum (ER), is well established, its downstream effects are still unknown. The aim of this study was to gain insight into ADTKD-UMOD pathogenesis through transcriptional profiling of immortalised mouse TAL cells (mTAL) transduced with lentiviral vectors encoding wild type or mutant (C150S) GFP-tagged human uromodulin. Overall design: Transcriptional profiling performed in triplicate of mTAL cells expressing GFP-tagged wild type or C150S mutant uromodulin isoforms.