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Molecular Poltergeists: Mitochondrial DNA Copies (numts) in Sequenced Nuclear Genomes

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TLDR
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.
Abstract
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.

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The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease

TL;DR: The demonstration of a mammalian mtDNA genetic bottleneck explains how new germline variants can increase to high levels within a generation, and the ultimate fixation of less-severe mutations that escape germline selection explains how they can contribute to the risk of late-onset disorders.
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Human mitochondrial DNA: roles of inherited and somatic mutations

TL;DR: Insight into the roles of mtDNA mutations in a wide variety of diseases is discussed, highlighting the interesting genetic characteristics of the mitochondrial genome and challenges in studying its contribution to pathogenesis.
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On the immortality of television sets: "function" in the human genome according to the evolution-free gospel of ENCODE.

TL;DR: The ENCODE results were predicted by one of its authors to necessitate the rewriting of textbooks and it is detailed the many logical and methodological transgressions involved in assigning functionality to almost every nucleotide in the human genome.
References
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Journal ArticleDOI

Rapid evolution of animal mitochondrial DNA.

TL;DR: The rate of evolution of the mitochondrial genome appears to exceed that of the single-copy fraction of the nuclear genome by a factor of about 10 and is likely to be an extremely useful molecule to employ for high-resolution analysis of the evolutionary process.
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Mitochondrial DNA sequences of primates: tempo and mode of evolution.

TL;DR: Genealogical analysis of the sequence differences supports the view that the human lineage branched off only slightly before the gorilla and chimpanzee lineages diverged and strengthens the hypothesis that humans are more related to gorillas and chimpanzees than is the orangutan.
Journal ArticleDOI

Endosymbiotic Gene Transfer: Organelle Genomes Forge Eukaryotic Chromosomes

TL;DR: Genome sequences reveal that a deluge of DNA from organelle DNA has constantly been bombarding the nucleus since the origin of organelles, abolished organelle autonomy and increased nuclear complexity.
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Mitochondrial pseudogenes: evolution's misplaced witnesses

TL;DR: Methods for avoiding Numts have now been tested, and several recent studies demonstrate the potential utility of Numt DNA sequences in evolutionary studies.
Journal ArticleDOI

Nuclear integrations: challenges for mitochondrial DNA markers

TL;DR: A better understanding of how the nuclear sequences themselves are interesting, and capable of serving as valuable molecular tools, they can also confound phylogenetic and population genetic studies.
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