Do mitochondria recombine in humans?

Eyre‐Walker, Adam

doi:10.1098/rstb.2000.0718

Cited by 40 publications

(27 citation statements)

References 65 publications

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“…It should be considered that the sperm mitochondria can survive inside other cells (Manfredi et al, 1997). The mtDNA repair mechanism, no matter how simple, could in theory allow for recombination (Eyre-Walker, 2000), and some of the testicular ubiquitin-conjugating enzymes may also participate in DNA repair (Baarends et al, 2000). Our own observations also show that sperm mitochondria can occasionally fuse with the mitochondria of other cell types (Fig.…”

Section: Evolutionary Considerationsmentioning

confidence: 86%

“…Cumulus cell mitochondria (arrows) display a distinct morphology with thick mitochondrial cristae. Some authors maintain that the leakage of paternal mtDNA and its recombination with oocytederived mtDNA occurs on occasion in the human and primate populations (discussed by Eyre-Walker, 2000). Magnifications: A ϭ 20,000ϫ; B ϭ 15,000ϫ; C ϭ 25,000ϫ; D ϭ 12,000ϫ; E ϭ 30,000ϫ; F ϭ 5,000ϫ.…”

Section: Clinical Considerations: Infertility Diagnostics Vasectomymentioning

confidence: 95%

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Ubiquitin‐dependent proteolysis in mammalian spermatogenesis, fertilization, and sperm quality control: Killing three birds with one stone

Šutovský

2003

Microscopy Res & Technique

254

181

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Ubiquitin and ubiquitin-like proteins control the degradation of substrates as diverse as cyclins, viral envelope proteins, plasma membrane receptors, and mRNAs. The ubiquitinated substrates are targeted towards the lysosomal or proteasomal degradation sites. The number and position of ubiquitin molecules bound to substrates' lysine residues and the number and position of ubiquitin molecules in polyubiquitin chains determine the astonishing substrate specificity of ubiquitin-mediated proteolysis. Ubiquitin is likely to be expressed in mammalian gametes and embryos at any given developmental step, but the information on ubiquitin dependence of gametogenesis and fertilization is sketchy. Ubiquitin ligases E1, E2, E3, and UBC4 are active in the testis. Ubiquitin and proteasomal subunits can be detected in the human sperm centrosome that undergoes dramatic reduction during spermatid elongation. Spermatid histones are ubiquitinated as they are being transiently replaced by transitional proteins and permanently by protamines. Ubiquitin tagging of the sperm mitochondrial membranes may serve as a death sentence for paternal mitochondria at fertilization, thus promoting the maternal inheritance of mitochondrial DNA (mtDNA) in mammals. The defective spermatozoa become surface-ubiquitinated during sperm descent down the epididymis. Finally, new evidence suggests the involvement of ubiquitin-proteasome pathway in the zona penetration by the acrosome-reacted spermatozoon. Such differential patterns of ubiquitination in the testis and epididymis, and inside the egg, may be necessary for reproductive success in humans and animals. Deciphering and eventually manipulating the ubiquitin-dependent proteolysis in the reproductive system could allow us to redirect the mode of mtDNA inheritance after cloning and ooplasmic transplantation, provide germ line therapy in some cases of male infertility, develop new contraceptives, manage polyspermia during in vitro fertilization, and establish objective markers for infertility diagnostics, semen evaluation, and prediction of future fertility.

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Section: Evolutionary Considerationsmentioning

confidence: 86%

Section: Clinical Considerations: Infertility Diagnostics Vasectomymentioning

confidence: 95%

Ubiquitin‐dependent proteolysis in mammalian spermatogenesis, fertilization, and sperm quality control: Killing three birds with one stone

Šutovský

2003

Microscopy Res & Technique

254

181

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“…Awadalla et al (1999) showed that LD was negatively correlated to distance for the six hominid and chimpanzee datasets that they analysed. However, this consistency has not been found in other human datasets; of the 16 human, and one chimpanzee, datasets which have been looked at, 10 show a negative correlation with distance, with 7 showing non-significant small positive correlations (Elson et al 2001;Eyre-Walker 2000;Ingman et al 2000;Jorde and Bamshad 2000). A Bonferroni correction for multiple simultaneous tests leaves only the chimpanzee dataset significant.…”

Section: Linkage Disequilibriummentioning

confidence: 92%

Does Human mtDNA Recombine?

Eyre‐Walker

Awadalla

2001

Journal of Molecular Evolution

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Abstract. In this article we review the evidence for and against recombination in human mtDNA. If recombination occurs, there needs to be a route by which genetic material can incorporate itself into the mitochondrial genome, and hence between mitochondrial lineages. We review the evidence for possible routes and then review the current state of the population genetic evidence for recombination. We conclude that there is no firmly established route by which recombination can occur, and that while some of the population genetic evidence is suggestive of recombination, it is far from conclusive.

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“…It is reasonable to assume, however, the inheritance of paternal mtDNA to be of significance if the introgressing molecule propagates and replaces the maternal mtDNA or if heterologous recombination takes place and the resulting chimeric molecule manifests in populations (Eyre-walker, 2000). Such processes would not only impact on the evolution of the molecule but also may impact species or population fitness and may counterbalance the female selective sieve acting on mtDNA (Bromham et al, 2003;Gemmell et al, 2004;Innocenti et al, 2011).…”

Section: Discussionmentioning

confidence: 99%

Paternal transmission of mitochondrial DNA as an integral part of mitochondrial inheritance in metapopulations of Drosophila simulans

et al. 2012

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Maternal inheritance is one of the hallmarks of animal mitochondrial DNA (mtDNA) and central to its success as a molecular marker. This mode of inheritance and subsequent lack of heterologous recombination allows us to retrace evolutionary relationships unambiguously down the matriline and without the confounding effects of recombinant genetic information. Accumulating evidence of biparental inheritance of mtDNA (paternal leakage), however, challenges our current understanding of how this molecule is inherited. Here, using Drosophila simulans collected from an East African metapopulation exhibiting recurring mitochondrial heteroplasmy, we conducted single fly matings and screened F1 offspring for the presence of paternal mtDNA using allele-specific PCR assays (AS-PCR). In all, 27 out of 4092 offspring were identified as harboring paternal mtDNA, suggesting a frequency of 0.66% paternal leakage in this species. Our findings strongly suggest that recurring mtDNA heteroplasmy as observed in natural populations of Drosophila simulans is most likely caused by repeated paternal leakage. Our findings further suggest that this phenomenon to potentially be an integral part of mtDNA inheritance in these populations and consequently of significance for mtDNA as a molecular marker.

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Do mitochondria recombine in humans?

Cited by 40 publications

References 65 publications

Ubiquitin‐dependent proteolysis in mammalian spermatogenesis, fertilization, and sperm quality control: Killing three birds with one stone

Ubiquitin‐dependent proteolysis in mammalian spermatogenesis, fertilization, and sperm quality control: Killing three birds with one stone

Does Human mtDNA Recombine?

Paternal transmission of mitochondrial DNA as an integral part of mitochondrial inheritance in metapopulations of Drosophila simulans

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