A mutation in the mouse Chd2 chromatin remodeling enzyme results in a complex renal phenotype
Department of Cell Biology; Department of Neurology; Department of Cancer Biology; Department of Internal Medicine, Division of Renal Medicine
Animals; *Chromatin Assembly and Disassembly; DNA-Binding Proteins; Epigenesis, Genetic; Glomerulonephritis, Membranous; Kidney; Kidney Diseases; Mice; *Mutation; Phenotype; Proteinuria
Cell Biology | Life Sciences | Medicine and Health Sciences | Nephrology
BACKGROUND AND AIMS: Glomerular diseases are the third leading cause of kidney failure worldwide, behind only diabetes and hypertension. The molecular mechanisms underlying the cause of glomerular diseases are still largely unknown. The identification and characterization of new molecules associated with glomerular function should provide new insights into understanding the diverse group of glomerular diseases. The Chd2 protein belongs to a family of enzymes involved in ATP-dependent chromatin remodeling, suggesting that it likely functions as an epigenetic regulator of gene expression via the modification of chromatin structure.
METHODS: In this study, we present a detailed histomorphologic characterization of mice containing a mutation in the chromodomain helicase DNA-binding protein 2 (Chd2).
RESULTS: We show that Chd2-mutant mice present with glomerulopathy, proteinuria, and significantly impaired kidney function. Additionally, serum analysis revealed decreased hemoglobin and hematocrit levels in Chd2-mutant mice, suggesting that the glomerulopathy observed in these mice is associated with anemia.
CONCLUSION: Collectively, the data suggest a role for the Chd2 protein in the maintenance of kidney function.
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Citation: Kidney Blood Press Res. 2008;31(6):421-32. Link to article on publisher's site
DOI of Published Version
Kidney and blood pressure research
Marfella, Concetta G. A.; Henninger, Nils; LeBlanc, Scott E.; Krishnan, Namrata; Garlick, David S.; Holzman, Lawrence B.; and Imbalzano, Anthony N., "A mutation in the mouse Chd2 chromatin remodeling enzyme results in a complex renal phenotype" (2008). Open Access Articles. 2171.