Stevanoni M, Palumbo E, Russo A (2016). PLoS Genet 12(7): e1006201. doi:10.1371/journal.pgen.1006201
Open access (Creative Commons Attribution License)
In this study we defined the replication program of the FXN gene in human cells, providing for the first time a wide view of origin firing and fork progression within an endogenous genomic context harboring an expanded GAA-repeat. In comparison to the normal FXN sequence, we found an altered replication timing of the mutated alleles. According to our results, the replication of expanded FXN alleles is slowed or delayed during the first half of the S-phase as compared with the wildtype sequence, while a normalization of this effect can be inferred in the second part of the S-phase.
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