The Human Mitochondrial Transcriptome

The Human Mitochondrial Transcriptome“The most significant finding of the “Cell” paper is that the Perth-based scientists and their collaborators used cutting-edge gene sequencing technology to gain a complete understanding of mitochondrial genes and how they work.” – WAIMR Press Release

The human mitochondrial genome comprises a distinct genetic system transcribed as precursor polycistronic transcripts that are subsequently cleaved to generate individual mRNAs, tRNAs, and rRNAs.

Researchers from WAIMR and The University of Queensland have provided a comprehensive analysis of the human mitochondrial transcriptome across multiple cell lines and tissues. Using directional deep sequencing and parallel analysis of RNA ends, they demonstrate wide variation in mitochondrial transcript abundance and precisely resolve transcript processing and maturation events. They identify previously undescribed transcripts, including small RNAs, and observe the enrichment of several nuclear RNAs in mitochondria. Using high-throughput in vivo DNaseI footprinting, they establish the global profile of DNA-binding protein occupancy across the mitochondrial genome at single-nucleotide resolution, revealing regulatory features at mitochondrial transcription initiation sites and functional insights into disease-associated variants.

This integrated analysis of the mitochondrial transcriptome reveals unexpected complexity in the regulation, expression, and processing of mitochondrial RNA and provides a resource for future studies of mitochondrial function.

The data can be accessed at

(Read the WAIMR Press Release… ) 

  • Mercer TR et. al (2011) The Human Mitochondrial Transcriptome. Cell 146(4), 645-58.[abstract]