Animal mitochondrial DNA recombination

Lunt, David H.; Hyman, Bradley C.

doi:10.1038/387247a0

Cited by 252 publications

(159 citation statements)

References 12 publications

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“…Thus the TPMM incorporates rare but major changes in repeat array size alongside a more conservative mode of change, and Di Rienzo et al (1994) discuss evidence for microsatellites that this may be due to more than one mutational pathway. A similar situation may exist for mtVNTRs where slipped strand mispairing (the misalignment of repeat units during replication, Levinson & Gutman 1987) might be responsible for the frequent small changes observed in many systems, with inter-or intramolecular recombination (Lunt & Hyman 1997) causing gross changes in array size.…”

Section: Models Of the Mutational Processmentioning

confidence: 83%

Section: How Does Mutation Change Copy Number?mentioning

confidence: 99%

“…Slippedstrand mispairing (Levinson & Gutman 1987), illegitimate elongation (Buroker et al 1990) and recombination (Lunt & Hyman 1997) are all mechanisms for altering mtVNTR copy number, and indeed may all act at different times in the history of a repeat array. While slipped-strand mispairing and illegitimate elongation may produce the most frequent changes, copy-number changes may be less dramatic than intramolecular recombination which is known to cause large deletions in the Meloidogyne repeat arrays (Lunt & Hyman 1997) and may cause very rapid shifts in copy number. Although Casane et al (1994) have shown in the European rabbit that mtVNTR deletions of one repeat copy are more frequent than deletions of two, which are in turn more frequent than deletion of three repeats, many more pedigree and heteroplasmy studies are necessary to effectively characterize the nature of change typically observed in mtVNTRs.…”

Section: How Does Mutation Change Copy Number?mentioning

confidence: 99%

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Mitochondrial DNA variable number tandem repeats (VNTRs): utility and problems in molecular ecology

1998

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Analysis of mitochondrial (mt)DNA size polymorphism in the form of variable number tandem repeats (mtVNTRs) has become an increasingly popular methodology for addressing questions in molecular ecology. When detected by PCR, mtVNTR analysis can provide a sensitive, rapid, and cost-effective measure of genetic variability that may be exploited in studies of population differentiation and biogeography. Despite the emergence of this approach, there has been little critical evaluation of its success or utility as a practical tool. In this review, we identify problematic methodological, theoretical and interpretive factors that can influence the utility of mtVNTR analysis. The reliability of the procedure is considered in terms of both detection of alleles and scoring of intra-individual allele frequencies. While many of the potential technical problems of the technique do not raise serious practical concerns, this rapid and sensitive methodology is seriously compromised by the difficulty of reliably assessing allele frequencies, of assaying only germline tissue, and in our ignorance of the mechanisms generating mtVNTR diversity. Thus, although there is a considerable potential for mtVNTR pilot studies to assess genetic diversity, the utility of the technique to resolve broader questions in molecular ecology should be treated cautiously until such a time as the system is better understood.

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Section: Models Of the Mutational Processmentioning

confidence: 83%

Section: How Does Mutation Change Copy Number?mentioning

confidence: 99%

Section: How Does Mutation Change Copy Number?mentioning

confidence: 99%

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Mitochondrial DNA variable number tandem repeats (VNTRs): utility and problems in molecular ecology

1998

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“…Inversions may be the result of intra-mitochondrial recombination (Dowton and Campbell, 2001;Lunt and Hyman, 1997). This mechanism may also lead to the formation of mini-circles (Dowton and Austin, 1999) and might also account for the heterogeneous gene contents observed in some clades, see Section 2.2.…”

Section: Genome Rearrangementsmentioning

confidence: 99%

Genetic aspects of mitochondrial genome evolution

Bernt

Braband

Schierwater

et al. 2013

Molecular Phylogenetics and Evolution

219

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“…However, possible indirect evidence of recombination in vivo comes from variable-number tandem repeat sequences, found in the mtDNA of many vertebrates and invertebrates (Wolstenholme 1992;Hoelzel 1993). It is thought that the variation in copy number is generated by unequal exchange or gene conversion, in some species at least, and this has been recently con¢rmed in vivo in the phytonematode Meloidogyne javanica (Lunt & Hyman 1997).…”

Section: Pathwaysmentioning

confidence: 99%

Do mitochondria recombine in humans?

Eyre‐Walker

2000

Phil. Trans. R. Soc. Lond. B

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Until very recently, mitochondria were thought to be clonally inherited through the maternal line in most higher animals. However, three papers published in 2000 claimed population-genetic evidence of recombination in human mitochondrial DNA. Here I review the current state of the debate. I review the evidence for the two main pathways by which recombination might occur: through paternal leakage and via a mitochondrial DNA sequence in the nuclear genome. There is no strong evidence for either pathway, although paternal leakage seems a de¢nite possibility. However, the population-genetic evidence, although not conclusive, is strongly suggestive of recombination in mitochondrial DNA. The implications of non-clonality for our understanding of human and mitochondrial evolution are discussed.

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Animal mitochondrial DNA recombination

Cited by 252 publications

References 12 publications

Mitochondrial DNA variable number tandem repeats (VNTRs): utility and problems in molecular ecology

Mitochondrial DNA variable number tandem repeats (VNTRs): utility and problems in molecular ecology

Genetic aspects of mitochondrial genome evolution

Do mitochondria recombine in humans?

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