Molecular Poltergeists: Mitochondrial DNA Copies (numts) in Sequenced Nuclear Genomes
By Einat Hazkani-Covo, Raymond M. Zeller, William F. Martin. PLoS Genetics, 2010
622 citations recorded by the source corpus.
The natural transfer of DNA from mitochondria to the nucleus generates nuclear copies of mitochondrial DNA (numts) and is an ongoing evolutionary process, as genome sequences attest. In humans, five different numts cause genetic disease and a dozen human loci are polymorphic for the presence of numts, underscoring the rapid rate at which mitochondrial sequences reach the nucleus over evolutionary time. In the laboratory and in nature, numts enter the nuclear DNA via non-homolgous end joining (NHEJ) at double-strand breaks (DSBs). The frequency of numt insertions among 85 sequenced eukaryotic genomes reveal that numt content is strongly correlated with genome size, suggesting that the numt insertion rate might be limited by DSB frequency. Polymorphic numts in humans link maternally inherited mitochondrial genotypes to nuclear DNA haplotypes during the past, offering new opportunities to associate nuclear markers with mitochondrial markers back in time.
Subfields: Clinical Biochemistry, Molecular Biology
View Paper: https://www.semanticscholar.org/paper/3b6d4524b1c48f3ef62fac79377be84d5ce26de6
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In Molecular Biology
Citations in the corpus
- Chloroplast genomes: diversity, evolution, and applications in genetic engineering (2016, background): “It is very easy to identify the chloroplast origin of genes in plant mitochondrial or nuclear genomes [99, 100] by intracellular gene transfer [32], but this could also lead to erroneous phylogenic relationships when short sequences are used instead of complete chloroplast genome sequences.”
- tRNAscan-SE 2.0: improved detection and functional classification of transfer RNA genes (2019, methodology): “When scanning nuclear genomes, users can optionally include mitochondrial model scoring (--mt option) to identify and distinguish between cytosolic and nuclear-encoded mitochondrial tRNA genes (31,32).”