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Title:
Rates of DNA Duplication and Mitochondrial DNA Insertion in the Human Genome | Journal of Molecular Evolution
Description:
The hundreds of mitochondrial pseudogenes in the human nuclear genome sequence (numts) constitute an excellent system for studying and dating DNA duplications and insertions. These pseudogenes are associated with many complete mitochondrial genome sequences and through those with a good fossil record. By comparing individual numts with primate and other mammalian mitochondrial genome sequences, we estimate that these numts arose continuously over the last 58 million years. Our pairwise comparisons between numts suggest that most human numts arose from different mitochondrial insertion events and not by DNA duplication within the nuclear genome. The nuclear genome appears to accumulate mtDNA insertions at a rate high enough to predict within-population polymorphism for the presence/absence of many recent mtDNA insertions. Pairwise analysis of numts and their flanking DNA produces an estimate for the DNA duplication rate in humans of 2.2 Γ 10β9 per numt per year. Thus, a nucleotide site is about as likely to be involved in a duplication event as it is to change by point substitution. This estimate of the rate of DNA duplication of noncoding DNA is based on sequences that are not in duplication hotspots, and is close to the rate reported for functional genes in other species.
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month download article/chapter rocchi ee eichler reinert rv samonte related subjects complete mitochondrial sequence zhang gm hewitt human population studies mitochondrial dna insertion full article pdf human nuclear genome human-specific duplication privacy choices/manage cookies human nuclear dna human genome published dna duplication rate nuclear genome appears mitochondrial dna sequences recent segmental duplications primate mitochondrial dna mitochondrial insertion events human mitochondrial pseudogenes flanking dna produces mol evol 57 gx hu grasshopper nuclear genomes large mitochondrial fragments humanβape splitting check access instant access dna evidence complemented dna duplication european economic area misceo je horvath wang ac wilson czelusniak sl page gunnell cp groves sinauer associates sunderland lynch js conery mourier aj hansen pissinatti ds woodruff przeworski rr hudson woischnik ct moraes accumulate mtdna insertions dating dna duplications multiple nuclear insertions conditions privacy policy human numts arose mitochondrial dna mitochondrial dna gene duplication
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headline:Rates of DNA Duplication and Mitochondrial DNA Insertion in the Human Genome
description:The hundreds of mitochondrial pseudogenes in the human nuclear genome sequence (numts) constitute an excellent system for studying and dating DNA duplications and insertions. These pseudogenes are associated with many complete mitochondrial genome sequences and through those with a good fossil record. By comparing individual numts with primate and other mammalian mitochondrial genome sequences, we estimate that these numts arose continuously over the last 58 million years. Our pairwise comparisons between numts suggest that most human numts arose from different mitochondrial insertion events and not by DNA duplication within the nuclear genome. The nuclear genome appears to accumulate mtDNA insertions at a rate high enough to predict within-population polymorphism for the presence/absence of many recent mtDNA insertions. Pairwise analysis of numts and their flanking DNA produces an estimate for the DNA duplication rate in humans of 2.2 Γ 10β9 per numt per year. Thus, a nucleotide site is about as likely to be involved in a duplication event as it is to change by point substitution. This estimate of the rate of DNA duplication of noncoding DNA is based on sequences that are not in duplication hotspots, and is close to the rate reported for functional genes in other species.
datePublished:
dateModified:
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sameAs:https://doi.org/10.1007/s00239-003-2485-7
keywords:
Numt
numtDNA
Segmental duplication
Human population genetic markers
Evolutionary Biology
Microbiology
Plant Sciences
Plant Genetics and Genomics
Animal Genetics and Genomics
Cell Biology
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headline:Rates of DNA Duplication and Mitochondrial DNA Insertion in the Human Genome
description:The hundreds of mitochondrial pseudogenes in the human nuclear genome sequence (numts) constitute an excellent system for studying and dating DNA duplications and insertions. These pseudogenes are associated with many complete mitochondrial genome sequences and through those with a good fossil record. By comparing individual numts with primate and other mammalian mitochondrial genome sequences, we estimate that these numts arose continuously over the last 58 million years. Our pairwise comparisons between numts suggest that most human numts arose from different mitochondrial insertion events and not by DNA duplication within the nuclear genome. The nuclear genome appears to accumulate mtDNA insertions at a rate high enough to predict within-population polymorphism for the presence/absence of many recent mtDNA insertions. Pairwise analysis of numts and their flanking DNA produces an estimate for the DNA duplication rate in humans of 2.2 Γ 10β9 per numt per year. Thus, a nucleotide site is about as likely to be involved in a duplication event as it is to change by point substitution. This estimate of the rate of DNA duplication of noncoding DNA is based on sequences that are not in duplication hotspots, and is close to the rate reported for functional genes in other species.
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dateModified:
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pageEnd:354
sameAs:https://doi.org/10.1007/s00239-003-2485-7
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Numt
numtDNA
Segmental duplication
Human population genetic markers
Evolutionary Biology
Microbiology
Plant Sciences
Plant Genetics and Genomics
Animal Genetics and Genomics
Cell Biology
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