Mitochondrial DNA insertion polymorphism and germ line heteroplasmy in the Triturus cristatus complex

Wallis, Graham P.

doi:10.1038/hdy.1987.37

Cited by 66 publications

(38 citation statements)

References 40 publications

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“…The evidence from Cnemidophorus does not support the suggestion (8) that large DNA insertions are more frequent in hybrids. The restricted geographic and/or phylogenetic distributions of the mtDNA duplications in Cnemidophorus, Heteronotia, and other species (Triturus, ref.…”

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confidence: 47%

“…7; unpublished data), snakes (L. D. Densmore and F. Rose, personal communication), newts (8), frogs (9), fish (M. Hall, personal communication), and nematodes (10). The sequence additions have been characterized for mtDNAs from some lizards (7) and newts (8) and have been shown to be tandem duplications that include protein genes and/or rRNA genes as well as the control region. Similar duplications caused the mtDNA size increases in at least some of the other taxa (M. Hall, personal communication; B. Hyman, personal communication), indicating that the de novo duplication of mtDNA coding sequences is a widespread phenomenon.…”

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Tandem duplications in animal mitochondrial DNAs: variation in incidence and gene content among lizards.

Moritz

Brown

1987

Proc. Natl. Acad. Sci. U.S.A.

275

133

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Size, location, gene content, and incidence were determined for 10 lizard mitochondrial DNA duplications. These range from 0.8 to 8.0 kilobases (kb) and account for essentially all of the observed size variation (17-25 kb). Cleavage-site mapping and transfer-hybridization experiments indicate that each duplication is tandem and direct, includes at least one protein or rRNA gene, and is adjacent to or includes the D loop-containing control region. Duplication boundaries are nonrandomly distributed, and most appear to align with tRNA genes, suggesting that these may play a role in the duplication process. Duplications are infrequent and usually restricted to particular individuals or populations. They appear to be ephemeral; in no case is the same duplication shared by mitochondrial DNAs from closely related species. Mitochondrial DNA duplications occur significantly more often in triploid than diploid lizards and at similar frequencies in hybrids and nonhybrids.Although well known for its rapid rate of sequence evolution (1, 2), animal mtDNA also has several highly conserved features, including its genetic content and small size. Virtually all animal mtDNAs studied contain genes for two rRNAs, 22 tRNAs, and the same 13 proteins and have a control region with sequences regulating DNA replication and transcription (3,4). Their small size [16.0-18.0 kilobases (kb); refs. 4 and 5] is partly a consequence of simple genetic organization: there are no introns, and intergenic spacers are absent or very small (3, 4).Size differences in the control region, ranging from a few base pairs (bp) to 1 or 2 kb, are common among closely related animal mtDNAs (4, 6). These differences can be due to variation in the number of nucleotides in homopolymer tracts, to variation in the copy number of short tandem repeats, and to the duplication or deletion of unique sequences (4, 6).Recently, mtDNAs that are 5-10 kb larger than normal have been observed in some lizards (ref. 7; unpublished data), snakes (L. D. Densmore and F. Rose, personal communication), newts (8), frogs (9), fish (M. Hall, personal communication), and nematodes (10). The sequence additions have been characterized for mtDNAs from some lizards (7) and newts (8) and have been shown to be tandem duplications that include protein genes and/or rRNA genes as well as the control region. Similar duplications caused the mtDNA size increases in at least some of the other taxa (M. Hall, personal communication; B. Hyman, personal communication), indicating that the de novo duplication of mtDNA coding sequences is a widespread phenomenon.We have characterized physical, genetic, and evolutionary properties of 10 duplications in mtDNAs from seven species of Cnemidophorus. Cleavage-site mapping and transferhybridization experiments were used to determine the size, boundaries, and genetic content of each duplication. We also have compared the incidence of mtDNA duplication in diploid vs. triploid and in hybrid vs. nonhybrid nuclear backgrounds.

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Tandem duplications in animal mitochondrial DNAs: variation in incidence and gene content among lizards.

Moritz

Brown

1987

Proc. Natl. Acad. Sci. U.S.A.

275

133

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“…Until now, three general types of length variation have been described (reviewed in ; (1) insertions/deletions of few nucleotides (e.g., Monnerot et al 1984); (2) variations in the copy number of tandemly repeated sequences (Densmore et al 1985;Solignac et al 1986a;LaRoche et al 1990;Rand and Harrison 1989;Boyce et al 1989;Buroker et al 1990;Mignotte et al 1990;Okimoto et al 1991); and (3) duplication/deletions of large regions of the genome Bentzen et al 1988;Wallis 1987;Boursot et al 1987;Cornuet et al 1991). …”

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Characterization of the length polymorphism in the A+T-rich region of the Drosophila obscura group species

1993

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In the twelve Drosophila obscura group species studied, belonging to the affinis, obscura, and pseudoobscura subgroups, the mitochondrial DNA length ranges from 15.8 to 17.2 kb. This length polymorphism is mainly due to insertions/deletions in the variable region of the A + T-rich region. In addition, one species (D. tristis) possess a tandem duplication of a 470-bp fragment that contains the replication origin. The same duplication has occurred at least twice in the Drosophila evolutionary history due to the fact that the repetition is analogous to repetitions found in the four species of the D. melanogaster complex. By comparing the nucleotide sequence of the conserved region in D. ambigua, D. obscura, D. yakuba, D. teissieri, and D. virilis, we show the presence of a secondary structure, likely implied in the replication origin, which could favor the generation of this kind of duplications. Finally, we propose that the high A and T content in the variable region of the A + T-rich region favors the formation of less-stable secondary structures, which could explain the generation of minor insertion/deletions found in this region.

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“…Multiple copies of mtDNA regions may be present within the mitochondrial genome (e.g., Moritz and Brown, 1986;Wallis, 1987) and may be detected first by the presence of multiple bands or highly atypical size variants of PCR products. Multiple copies may be due to very large (up to 4 kb) repeated regions or deletions, moderate size variations (several to several hundred bp; typical of repeated regions in the control region), or single base differences (e.g., due to insertions or deletions in non-proteincoding DNA regions).…”

Section: Gene Identity and Homology Multiple Copies Of Genes And Hementioning

confidence: 99%

PCR Primers and Amplification Methods for 12S Ribosomal DNA, the Control Region, Cytochrome Oxidase I, and Cytochromebin Bufonids and Other Frogs, and an Overview of PCR Primers which Have Amplified DNA in Amphibians Successfully

Goebel

Donnelly

Atz

1999

Molecular Phylogenetics and Evolution

244

155

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Mitochondrial DNA insertion polymorphism and germ line heteroplasmy in the Triturus cristatus complex

Cited by 66 publications

References 40 publications

Tandem duplications in animal mitochondrial DNAs: variation in incidence and gene content among lizards.

Tandem duplications in animal mitochondrial DNAs: variation in incidence and gene content among lizards.

Characterization of the length polymorphism in the A+T-rich region of the Drosophila obscura group species

PCR Primers and Amplification Methods for 12S Ribosomal DNA, the Control Region, Cytochrome Oxidase I, and Cytochromebin Bufonids and Other Frogs, and an Overview of PCR Primers which Have Amplified DNA in Amphibians Successfully

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