Structure and Chromosomal Distribution of Human Mitochondrial Pseudogenes

Tourmen, Yves; Baris, Olivier; Dessen, Philippe; Jacques, Caroline; Malthièry, Yves; Reynier, Pascal

doi:10.1006/geno.2002.6798

Cited by 125 publications

(125 citation statements)

References 22 publications

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“…However, if present in chinook salmon, such genes are unlikely to be present in high copy numbers and, therefore, would not have significantly impacted on our estimates. Moreover, as most nuclear-encoded mitochondrial pseudogenes exhibit length polymorphisms (Tourmen et al, 2002;Woischnik and Moraes, 2002), we excluded the presence of such genes by performing a melting curve analysis at the end of each experiment.…”

Section: Discussionmentioning

confidence: 99%

Lost in the zygote: the dilution of paternal mtDNA upon fertilization

Wolff¹,

Gemmell²

2008

Heredity

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The mechanisms by which paternal inheritance of mitochondrial DNA (mtDNA) (paternal leakage) and, subsequently, recombination of mtDNA are prevented vary in a speciesspecific manner with one mechanism in common: paternally derived mtDNA is assumed to be vastly outnumbered by maternal mtDNA in the zygote. To date, this dilution effect has only been described for two mammalian species, human and mouse. Here, we estimate the mtDNA content of chinook salmon oocytes to evaluate the dilution effect operating in another vertebrate; the first such study outside a mammalian system. Employing real-time PCR, we determined the mtDNA content of chinook salmon oocytes to be 3.2 Â 10 9 ± 1.0 Â 10 9 , and recently, we determined the mtDNA content of chinook salmon sperm to be 5.73 ± 2.28 per gamete. Accordingly, the ratio of paternal-to-maternal mtDNA if paternal leakage occurs is estimated to be 1:5.5 Â 10 8 . This contribution of paternal mtDNA to the overall mtDNA pool in salmon zygotes is three to five orders of magnitude smaller than those revealed for the mammalian system, strongly suggesting that paternal inheritance of mtDNA per offspring will be much less likely in this system than in mammals.

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Section: Discussionmentioning

confidence: 99%

Lost in the zygote: the dilution of paternal mtDNA upon fertilization

Wolff¹,

Gemmell²

2008

Heredity

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“…Nuclear copies of mitochondrial genes (numts) have been reported in many species (Sorenson and Quinn 1998;Bensasson et al 2000;Williams and Knowlton 2001;Tourmen et al 2002;Pereira and Baker 2004;Richly and Leister 2004;Kim et al 2006;Behura 2007), including rodents (Mirol et al 2000;Triant and DeWoody 2007a, b;Gonzalez-Ittig and Gardenal 2008). These numts may be long (i.e.…”

Section: Introductionmentioning

confidence: 99%

Nuclear copies of mitochondrial genes: another problem for ancient DNA

et al. 2010

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The application of ancient DNA techniques is subject to many problems caused primarily by low quality and by low quantity of DNA. For these reasons most studies employing ancient DNA rely on the characterization of mitochondrial DNA, which is present in many more copies per cell than nuclear DNA and hence more copies are likely to survive. We used universal and taxon specific mitochondrial primers to amplify DNA from museum specimens, and found many instances where the amplification of nuclear copies of the mitochondrial gene (numts) instead of the targeted mitochondrial fragment had occurred. Furthermore, the likelihood of amplifying numts increased dramatically when universal primers were utilized. Here we suggest that ancient DNA practitioners must consider the possibility that numts can be amplified at higher rates than previously thought. This is another complication for ancient DNA studies, but it also suggests that more extensive inclusion of nuclear markers in ancient DNA studies should be feasible.R.-J. den Tex · J. A. Leonard (&)

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“…Most of the described incidences of numt are of short fragments of less than 600 bp with varying degrees of similarity with cymtDNA (Zhang and Hewitt, 1996a;Herrnstadt et al, 1999) and the process of integration has been often associated with non-homologous recombination (e.g., Roth et al, 1985;Henze and Martin, 2001). In humans, the genome sequence database has provided a broad view of the extent of mtDNA transfer, has facilitated the identification of transfer mechanisms, and has illuminated the evolutionary dynamics of numts (Mourier et al, 2001;Tourmen et al, 2002;Woischnik and Moraes, 2002;HazkaniCovo et al, 2003;Mishmar et al, 2004;Ricchetti et al, 2004). The incorporation of mtDNAs sequences into the human nuclear genome has probably been a continuous evolutionary process, with, by some estimates, at least 612 integrations (Woischnik and Moraes, 2002).…”

Section: Introductionmentioning

confidence: 99%

“…The incorporation of mtDNAs sequences into the human nuclear genome has probably been a continuous evolutionary process, with, by some estimates, at least 612 integrations (Woischnik and Moraes, 2002). However, the incidence of novel numt insertions may be lower, since mtDNA-like sequences may also result from duplication after insertion into the nucleus (Tourmen et al, 2002;Bensasson et al, 2003;Hazkani-Covo et al, 2003). Most human numt segments encompass less than 5% of the mtDNA, and in only three instances exceed 70% of mtDNA.…”

Section: Introductionmentioning

confidence: 99%

Evolutionary analysis of a large mtDNA translocation (numt) into the nuclear genome of the Panthera genus species

Kim

Antunes

Luo

et al. 2006

Gene

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Translocation of cymtDNA into the nuclear genome, also referred to as numt, has been reported in many species, including several closely related to the domestic cat (Felis catus). We describe the recent transposition of 12,536 bp of the 17 kb mitochondrial genome into the nucleus of the common ancestor of the five Panthera genus species: tiger, P. tigris; snow leopard, P. uncia; jaguar, P. onca; leopard, P. pardus; and lion, P. leo. This nuclear integration, representing 74% of the mitochondrial genome, is one of the largest to be reported in eukaryotes. The Panthera genus numt differs from the numt previously described in the Felis genus in: (1) chromosomal location (F2 -telomeric region vs. D2 -centromeric region), (2) gene make up (from the ND5 to the ATP8 vs. from the CR to the COII), (3) size (12.5 kb vs. 7.9 kb), and (4) structure (single monomer vs. tandemly repeated in Felis). These distinctions indicate that the origin of this large numt fragment in the nuclear genome of the Panthera species is an independent insertion from that of the domestic cat lineage, which has been further supported by phylogenetic analyses. The tiger cymtDNA shared around 90% sequence identity with the homologous numt sequence, suggesting an origin for the Panthera numt at around 3.5 million years ago, prior to the radiation of the five extant Panthera species. Keywords big cats; mitochondrial DNA; nuclear insertion; numt; Panthera genus; pseudogene; tiger Abbreviations ATP8, ATP synthase subunit 8; bp, base pairs; Cyt b, cytochrome b; COI, cytochrome c oxidase subunit I; COII, cytochrome c oxidase subunit II; cymtDNA, cytoplasmic mitochondrial DNA; CR, control region; kb, kilobase(s); FISH, fluorescence in situ hybridization; MYA, million years ago; mtDNA, mitochondrial DNA; ND1, NADH dehydrogenase subunit 1; ND2, NADH dehydrogenase subunit 2; ND5, NADH dehydrogenase subunit 5; ND6, NADH dehydrogenase subunit 6; PCR, polymerase chain reaction; RFLP, restriction fragment length polymorphism; 16S, 16S ribosomal RNA; 12S, 12S ribosomal RNA

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Structure and Chromosomal Distribution of Human Mitochondrial Pseudogenes

Cited by 125 publications

References 22 publications

Lost in the zygote: the dilution of paternal mtDNA upon fertilization

Lost in the zygote: the dilution of paternal mtDNA upon fertilization

Nuclear copies of mitochondrial genes: another problem for ancient DNA

Evolutionary analysis of a large mtDNA translocation (numt) into the nuclear genome of the Panthera genus species

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