The abundance of QFP sequences in yeast mtDNA [ 24] and potentially in mammals (this study), coupled with described effects of GQ on nuclear genome stability, make GQ structures of particular interest as potential agents in human mtDNA deletion formation.
Strikingly, the number of QFP sequences in human mtDNA was significantly higher than the number found in random genomes with the identical nucleotide content and asymmetry (not shown).
The intrastrand QFP sequences in the heavy and light strands of the human mitochondrial genome (NC_012920) were extracted using our own QFP predicting program (available upon request).
Here, we performed an examination of multiple categories of QFP sequences in human mtDNA.
Among these multiple types of QFP, the 2G QFP motif set are in closest proximity to the largest number of breakpoints and overlap the most common breakpoints.
Inside these domains all of the conserved motifs were found, including the GQ motif in the TEN domain, motifs v-II, v-III, QFP, and T in the TRBD, and motifs 1, 2, 3, A, IFD, B′, C, D, and E in the RT domain.
An increase in QFP of 20% for thin substrates is achievable at approximately L=4 μ m.
1502 samples from the Quebec Founder Population (QFP) were included in the study as a replication set (case/control ratio = 1).
We further tested all markers in this region (approximately 500 Kb regions upstream and downstream of BIN1) in QFP and combined all available samples/data (Pfizer, ADNI, GenADA, the replication Genizon samples and the published Harold data set) to fine-map this locus.
Sequences with QFP are prevalent in yeast mtDNA [ 24] and the promoters of prokaryotic genes [ 25], but little is known about QFP sequences in the mammalian mitochondrial genome.
