DNA repair/replication transcripts are down regulated in patients with Fragile X Syndrome.

ABSTRACT:

Background

Fragile X Syndrome (FXS) and its associated disorders are caused by the expansion of the CGG repeat in the 5' untranslated region of the fragile X mental retardation 1 (FMR1) gene, with disease classification based on the number of CGG repeats. The mechanisms of repeat expansion are dependent on the presence of cis elements and the absence of trans factors both of which are not mutually exclusive and contribute to repeat instability. Expansions associated with trans factors are due to the haploinsuffient or reduced expression of several DNA repair/metabolizing proteins. The reduction of expression in trans factors has been primarily conducted in animal models without substantial examination of many of these expansion mechanisms and trans factors in humans.

Results

SUBMITTER: Xu H 

PROVIDER: S-EPMC3637561 | biostudies-literature | 2013 Mar

REPOSITORIES: biostudies-literature