Molecular poltergeists: mitochondrial DNA copies (numts) in sequenced nuclear genomes

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 numt...

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Bibliographic Details
Published in:PLoS genetics 2010-02, Vol.6 (2), p.e1000834
Main Authors: Hazkani-Covo, Einat, Zeller, Raymond M, Martin, William
Format: Article
Language:English
Subjects:
Cell Nucleus - genetics
Deoxyribonucleic acid
DNA
DNA, Mitochondrial - genetics
Evolution
Evolutionary Biology
Gene Dosage - genetics
Genetic polymorphisms
Genetics
Genetics and Genomics/Comparative Genomics
Genome, Human - genetics
Genomics
Humans
Identification and classification
Mitochondrial Diseases - genetics
Mitochondrial DNA
Mutagenesis, Insertional
Nucleotide sequence
Observations
Properties
Review
Sequence Analysis, DNA
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Summary: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.
ISSN:1553-7404
1553-7390
1553-7404
DOI:10.1371/journal.pgen.1000834