Tri-allelic heteroplasmies, DNA-RNA differences and their polynucleotide tract associations in the mitochondrial genome.

摘要: Abstract The human mitochondrial genome has been extensively studied for its function and disease associations. Utilizing five types of high-throughput sequencing data on ten breast cancer patients (total N = 50), we examined several aspects the that have not thoroughly studied, including occurrence tri-allelic heteroplasmy, difference between DNA RNA, variants association with polynucleotide tracts. We validated four previously reported identified 23 additional positions. Furthermore, detected 18 single nucleotide seven InDel differences RNA. Previous studies suggested some these are caused by post transcriptional methylation. rest can be accredited to RNA editing, polyadenylation or errors. Most importantly, found positions, strongly associated tracts in genome, suggesting instability difficulty around tract regions.