FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia.

ABSTRACT:

Background

Friedreich ataxia is caused by an expanded GAA triplet-repeat sequence in intron 1 of the FXN gene that results in epigenetic silencing of the FXN promoter. This silencing mechanism is seen in patient-derived lymphoblastoid cells but it remains unknown if it is a widespread phenomenon affecting multiple cell types and tissues.

Methodology / principal findings

The humanized mouse model of Friedreich ataxia (YG8sR), which carries a single transgenic insert of the human FXN gene with an expanded GAA triplet-repeat in intron 1, is deficient for FXN transcript when compared to an isogenic transgenic mouse lacking the expanded repeat (Y47R). We found that in YG8sR the deficiency of FXN transcript extended both upstream and downstream of the expanded GAA triplet-repeat,

SUBMITTER: Chutake YK 

PROVIDER: S-EPMC4579136 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature