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Mitochondrial heteroplasmy profiling in single human oocytes by next-generation sequencing.

Massimo AncoraMassimiliano OrsiniAlessia ColosimoValentina RussoMaurilia MarcacciMaria De SantoMarco D'AuroraLiborio StuppiaValentina GattaBarbara BarboniCesare CammàMauro Mattioli
Published in: Mitochondrial DNA. Part B, Resources (2017)
Mitochondrial DNA (mtDNA) plays a key role in the development of a competent oocyte. Mutations of the mitochondrial genome lead to an altered energetic metabolism with negative effects on oocyte developmental competence. In this study, mtDNA heteroplasmy at an intra-oocyte level and between the different analyzed human oocytes (n = 12) was identified by a next-generation sequencing (NGS) protocol previously developed by this research group and submitted to GenBank. This method highlighted, in particular, variants in the genes involved in the respiratory chain providing a direct indication of the cell-specific damage within the mitochondrial genome as predictor of the oocyte quality.
Keyphrases
  • mitochondrial dna
  • copy number
  • genome wide
  • oxidative stress
  • endothelial cells
  • dna methylation
  • single cell
  • induced pluripotent stem cells
  • pluripotent stem cells
  • gene expression
  • circulating tumor cells