The genomic landscape of polymorphic human nuclear mitochondrial insertions

Gargi Dayama, Sarah B. Emery, Jeffrey M. Kidd, Ryan E. Mills

Research output: Contribution to journalArticlepeer-review

65 Scopus citations

Abstract

The transfer of mitochondrial genetic material into the nuclear genomes of eukaryotes is a well-established phenomenon that has been previously limited to the study of static reference genomes. The recent advancement of high throughput sequencing has enabled an expanded exploration into the diversity of polymorphic nuclear mitochondrial insertions (NumtS) within human populations. We have developed an approach to discover and genotype novel Numt insertions using whole genome, paired-end sequencing data. We have applied this method to a thousand individuals in 20 populations from the 1000 Genomes Project and other datasets and identified 141 new sites of Numt insertions, extending our current knowledge of existing NumtS by almost 20%. We find that recent Numt insertions are derived from throughout the mitochondrial genome, including the D-loop, and have integration biases that differ in some respects from previous studies on older, fixed NumtS in the reference genome. We determined the complete inserted sequence for a subset of these events and have identified a number of nearly full-length mitochondrial genome insertions into nuclear chromosomes. We further define their age and origin of insertion and present an analysis of their potential impact to ongoing studies of mitochondrial heteroplasmy and disease.

Original languageEnglish (US)
Pages (from-to)12640-12649
Number of pages10
JournalNucleic acids research
Volume42
Issue number20
DOIs
StatePublished - Nov 10 2014

Fingerprint Dive into the research topics of 'The genomic landscape of polymorphic human nuclear mitochondrial insertions'. Together they form a unique fingerprint.

Cite this