Ontology highlight
ABSTRACT:
SUBMITTER: Gerhardt J
PROVIDER: S-EPMC3920742 | biostudies-literature | 2014 Jan
REPOSITORIES: biostudies-literature
Gerhardt Jeannine J Tomishima Mark J MJ Zaninovic Nikica N Colak Dilek D Yan Zi Z Zhan Qiansheng Q Rosenwaks Zev Z Jaffrey Samie R SR Schildkraut Carl L CL
Molecular cell 20131127 1
Fragile X syndrome (FXS) is caused by a CGG repeat expansion in the FMR1 gene that appears to occur during oogenesis and during early embryogenesis. One model proposes that repeat instability depends on the replication fork direction through the repeats such that (CNG)n hairpin-like structures form, causing DNA polymerase to stall and slip. Examining DNA replication fork progression on single DNA molecules at the endogenous FMR1 locus revealed that replication forks stall at CGG repeats in human ...[more]