Sox9 Is a Modifier of the Liver Disease Severity in a Mouse Model of Alagille Syndrome.

ABSTRACT:

Background and aims

Alagille syndrome (ALGS) is a multisystem developmental disorder characterized by bile duct (BD) paucity, caused primarily by haploinsufficiency of the Notch ligand jagged1. The course of the liver disease is highly variable in ALGS. However, the genetic basis for ALGS phenotypic variability is unknown. Previous studies have reported decreased expression of the transcription factor SOX9 (sex determining region Y-box 9) in late embryonic and neonatal livers of Jag1-deficient mice. Here, we investigated the effects of altering the Sox9 gene dosage on the severity of liver disease in an ALGS mouse model.

Approach and results

Conditional removal of one copy of Sox9 in Jag1^+/- livers impairs the biliary commitment of cholangiocytes and enhances the

SUBMITTER: Adams JM 

PROVIDER: S-EPMC7048647 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature