FAN1 protects against repeat expansions in a Fragile X mouse model.

ABSTRACT: The Fragile X-related disorders (FXDs) are members of a large group of human neurological or neurodevelopmental conditions known as the Repeat Expansion Diseases. The mutation responsible for all of these diseases is an expansion in the size of a disease-specific tandem repeat tract. However, the underlying cause of this unusual mutation is unknown. Genome-wide association studies have identified single nucleotide polymorphisms (SNPs) in the vicinity of the FAN1 (MIM* 613534) gene that are associated with variations in the age at onset of a number of Repeat Expansion Diseases. FAN1 is a nuclease that has both 5'-3' exonuclease and 5' flap endonuclease activities. Here we show in a model for the FXDs that Fan1^-/- mice have expansions that, in some tissues including brain, are 2-3

SUBMITTER: Zhao XN 

PROVIDER: S-EPMC6119480 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature