Mitochondrial mutation dynamics

Credit: Arslan Zaidi

With sequencing now possible at high depth, we aim to examine mutation process directly, by examining the DNA of children and their parents. Mitochondrial DNA (mtDNA) provides a good starting point for such an investigation due to its compact size and high mutation rate. We have established an experimental and computational pipeline to study mtDNA mutations and heteroplasmy frequency shifts (Goto et al. 2011), therefore we are in great position to study the patterns and rates of mtDNA mutations at unprecedented detail. Our recent study suggested that mitochondrial DNA undergoes through a very small bottleneck during oogenesis and that the number of heteroplasmies in the offspring increases with maternal age at fertilization (Rebolledo Jaramillo, Su, et al. 2014). Collaborators: Anton Nekrutenko, Francesca Chiaromonte, Rasmus Nielsen (Figure : Afgan et al. 2011).

Members

Collaborators

Postdoctoral Scholar

Visiting Research Professor

Press Releases

New mutations occur at increasing rates in the mitochondrial genomes of developing egg cells in aging rhesus monkeys, but the increases …

Older mice have more new mutations – changes in DNA sequence that occur in the individual rather than being inherited from a …

Publications

. Advanced age increases frequencies of de novo mitochondrial mutations in macaque oocytes and somatic tissues. P NATL ACAD SCI USA, 2022.

Mitochondrial Paper Link

. Age-related accumulation of de novo mitochondrial mutations in mammalian oocytes and somatic tissues. PLOS BIOL, 2020.

Mitochondrial Paper Link

. Family reunion via error correction: an efficient analysis of duplex sequencing data. BMC BIOINFORMATICS, 2020.

Code Mitochondrial Non-B DNA & Microsatellite Paper Link

. Pronounced somatic bottleneck in mitochondrial DNA of human hair. PHILOS T R SOC B, 2019.

Code Mitochondrial Paper Link

. Bottleneck and selection in the germline and maternal age influence transmission of mitochondrial DNA in human pedigrees. P NATL ACAD SCI USA, 2019.

Mitochondrial Paper Link

. A Population Phylogenetic View of Mitochondrial Heteroplasmy. GENETICS, 2018.

Mitochondrial Paper Link

. Elevated mitochondrial genome variation after 50 generations of radiation exposure in a wild rodent. EVOL APPL, 2017.

Mitochondrial Paper Link

. Streamlined analysis of duplex sequencing data with Du Novo. GENOME BIOL, 2016.

Mitochondrial Paper Link

. Development and assessment of an optimized next-generation DNA sequencing approach for the mtgenome using the Illumina MiSeq. FORENSIC SCI INT-GEN, 2014.

Mitochondrial Paper Link

. Maternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA. P NATL ACAD SCI USA, 2014.

Mitochondrial Paper Link

. Controlling for contamination in re-sequencing studies with a reproducible web-based phylogenetic approach. BIOTECHNIQUES, 2014.

Mitochondrial Paper Link

. Harnessing cloud computing with Galaxy Cloud. NAT BIOTECHNOL, 2011.

Mitochondrial Paper Link

. Dynamics of mitochondrial heteroplasmy in three families investigated via a repeatable re-sequencing study. GENOME BIOL, 2011.

Mitochondrial Paper Link

. A Massively Parallel Sequencing Approach Uncovers Ancient Origins and High Genetic Variability of Endangered Przewalski's Horses. GENOME BIOL EVOL, 2011.

Mitochondrial Paper Link