Y665F variant of mouse Stat5b protects against acute kidney injury through transcriptomic shifts in renal gene expression

Abstract The impact of single nucleotide polymorphisms (SNP) on physiology is often underestimated. One amino acid change can result in a variety of phenotypes apparent only in response to disease or injury. Even known pathogenic SNPs have widespread effects that are currently unaccounted for. In th...

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Main Authors: Jakub Jankowski, Hye Kyung Lee, Lothar Hennighausen
Format: Article
Language:English
Published: Nature Portfolio 2025-08-01
Series:Scientific Reports
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Online Access:https://doi.org/10.1038/s41598-025-15812-0
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author Jakub Jankowski
Hye Kyung Lee
Lothar Hennighausen
author_facet Jakub Jankowski
Hye Kyung Lee
Lothar Hennighausen
author_sort Jakub Jankowski
collection DOAJ
description Abstract The impact of single nucleotide polymorphisms (SNP) on physiology is often underestimated. One amino acid change can result in a variety of phenotypes apparent only in response to disease or injury. Even known pathogenic SNPs have widespread effects that are currently unaccounted for. In this study, we investigated the impact of the known activating and pathogenic Stat5b Y665F mutation in a renal injury context in mice carrying this variant. Using ischemia–reperfusion model of acute kidney injury, immunohistochemistry, RNA-seq and ChIP-seq, we establish the protective role of STAT5b activation in renal epithelium and showcase the shifts in transcriptomic landscape in a tissue not associated with the usual human phenotype of the STAT5B Y665F mutation. Our data indicate new links between the JAK/STAT pathway and known kidney injury markers, contribute to the understanding of the sexual dimorphism of renal disease, and provide new potential targets for JAK inhibitor- and amino acid transport modulation-based therapies.
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spelling doaj-art-3845d752f83a4c56a4ba4c67ffbb76152025-08-24T11:28:54ZengNature PortfolioScientific Reports2045-23222025-08-0115111210.1038/s41598-025-15812-0Y665F variant of mouse Stat5b protects against acute kidney injury through transcriptomic shifts in renal gene expressionJakub Jankowski0Hye Kyung Lee1Lothar Hennighausen2Section of Genetics and Physiology, Laboratory of Cellular and Molecular Biology, National Institute of Diabetes and Digestive and Kidney Diseases, US National Institutes of HealthSection of Genetics and Physiology, Laboratory of Cellular and Molecular Biology, National Institute of Diabetes and Digestive and Kidney Diseases, US National Institutes of HealthSection of Genetics and Physiology, Laboratory of Cellular and Molecular Biology, National Institute of Diabetes and Digestive and Kidney Diseases, US National Institutes of HealthAbstract The impact of single nucleotide polymorphisms (SNP) on physiology is often underestimated. One amino acid change can result in a variety of phenotypes apparent only in response to disease or injury. Even known pathogenic SNPs have widespread effects that are currently unaccounted for. In this study, we investigated the impact of the known activating and pathogenic Stat5b Y665F mutation in a renal injury context in mice carrying this variant. Using ischemia–reperfusion model of acute kidney injury, immunohistochemistry, RNA-seq and ChIP-seq, we establish the protective role of STAT5b activation in renal epithelium and showcase the shifts in transcriptomic landscape in a tissue not associated with the usual human phenotype of the STAT5B Y665F mutation. Our data indicate new links between the JAK/STAT pathway and known kidney injury markers, contribute to the understanding of the sexual dimorphism of renal disease, and provide new potential targets for JAK inhibitor- and amino acid transport modulation-based therapies.https://doi.org/10.1038/s41598-025-15812-0STAT5BSNPAcute kidney injuryKidney
spellingShingle Jakub Jankowski
Hye Kyung Lee
Lothar Hennighausen
Y665F variant of mouse Stat5b protects against acute kidney injury through transcriptomic shifts in renal gene expression
Scientific Reports
STAT5B
SNP
Acute kidney injury
Kidney
title Y665F variant of mouse Stat5b protects against acute kidney injury through transcriptomic shifts in renal gene expression
title_full Y665F variant of mouse Stat5b protects against acute kidney injury through transcriptomic shifts in renal gene expression
title_fullStr Y665F variant of mouse Stat5b protects against acute kidney injury through transcriptomic shifts in renal gene expression
title_full_unstemmed Y665F variant of mouse Stat5b protects against acute kidney injury through transcriptomic shifts in renal gene expression
title_short Y665F variant of mouse Stat5b protects against acute kidney injury through transcriptomic shifts in renal gene expression
title_sort y665f variant of mouse stat5b protects against acute kidney injury through transcriptomic shifts in renal gene expression
topic STAT5B
SNP
Acute kidney injury
Kidney
url https://doi.org/10.1038/s41598-025-15812-0
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AT lotharhennighausen y665fvariantofmousestat5bprotectsagainstacutekidneyinjurythroughtranscriptomicshiftsinrenalgeneexpression