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© Research
Publication : Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

X-inactivation modifies disease severity in female carriers of murine X-linked Alport syndrome

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 23 Oct 2009

Rheault MN, Kren SM, Hartich LA, Wall M, Thomas W, Mesa HA, Avner P, Lees GE, Kashtan CE, Segal Y

Link to Pubmed [PMID] – 19854849

Nephrol. Dial. Transplant. 2010 Mar;25(3):764-9

BACKGROUND: Female carriers of X-linked Alport syndrome (XLAS) demonstrate variability in clinical phenotype that, unlike males, cannot be correlated with genotype. X-inactivation, the method by which females (XX) silence transcription from one X chromosome in order to achieve gene dosage parity with males (XY), likely modifies the carrier phenotype, but this hypothesis has not been tested directly.

METHODS: Using a genetically defined mouse model of XLAS, we generated two groups of Alport female (Col4a5(+/-)) carriers that differed only in the X-controlling element (Xce) allele regulating X-inactivation. We followed the groups as far as 6 months of age comparing survival and surrogate outcome measures of urine protein and plasma urea nitrogen.

RESULTS: Preferential inactivation of the mutant Col4a5 gene improved survival and surrogate outcome measures of urine protein and plasma urea nitrogen. In studies of surviving mice, we found that X-inactivation in kidney, measured by allele-specific mRNA expression assays, correlated with surrogate outcomes.

CONCLUSIONS: Our findings establish X-inactivation as a major modifier of the carrier phenotype in X-linked Alport syndrome. Thus, X-inactivation patterns may offer prognostic information and point to possible treatment strategies for symptomatic carriers.

http://www.ncbi.nlm.nih.gov/pubmed/19854849