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The Replication of Frataxin Gene Is Assured by Activation of Dormant Origins in the Presence of a GAA-Repeat Expansion

Fig 1

Replication timing of mutant and normal FXN alleles.

Percentages are calculated from pooled data obtained with FRDA (GM15850 and GM16227) and control GM15851 cells. Per each group, at least 550 nuclei were analyzed from at least two independent replicated experiments (Raw data in S1 Table). SS = nuclei with two single FISH spots (non-replicated alleles); SD = nuclei with one single and one duplicated FISH signal (one allele has been replicated); DD = nuclei with two duplicated FISH signals (both alleles have been replicated); others = nuclei with one or none FISH signals. Error bars indicate standard errors of proportions. The probe used in these experiments is BAC RP11-265B8. For comparison, the replication timing of a late replication sequence (FRA3B, probe RP11-468L11) in normal GM15851 cells is shown. Examples of FISH replication patterns are shown in the bottom of the Figure.

Fig 1

doi: https://doi.org/10.1371/journal.pgen.1006201.g001