Differences of sperm motility in mitochondrial DNA haplogroup U sublineages

Montiel-Sosa, Francisco; Ruiz‐Pesini, Eduardo; Enríquez, José Antonio; Marcuello, Ana; Dı́ez-Sánchez, Carmen; Montoya, Julio; Wallace, Douglas C.; López‐Pérez, Manuel J.

doi:10.1016/j.gene.2005.09.015

Cited by 94 publications

(88 citation statements)

References 31 publications

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“…Moreover, there appears to be a sex bias emerging in the reporting of such effects, with numerous studies suggesting that different mtDNA variants affect components of male fertility (Folgerø et al 1993, Kao et al 1998, Ruiz-Pesini et al 2000a,b, Froman & Kirby 2005, Montiel-Sosa et al 2006, Colagar et al 2013, Yee et al 2013, Tourmente et al 2017), but seemingly less reporting similar effects in females (Nakada et al 2006, Xu et al 2008, Dowling et al 2009, Smith et al 2010, Patel et al 2016. These studies have therefore generated attention because they appear consistent with the predictions of the Mother's Curse hypothesis.…”

Section: Theory Linking the Mitochondria To Male Fertilitymentioning

confidence: 99%

“…Ruiz-Pesini et al (2000a,b) reported that the human T haplogroup is overrepresented among males with low sperm motility, while the H haplogroup is overrepresented among males with high motility. Montiel-Sosa et al (2006) reported associations between distinct sub-haplogroups within the U haplogroup and variation in sperm motility and attempted to map these patterns to particular polymorphisms that distinguish the sub-haplogroups. Various other studies linked particular point mutations or deletions in human mtDNA to sperm dysfunction (Folgerø et al 1993, Huang et al 1994, Kao et al 1995, Fadic et al 1997, Lestienne et al 1997, Kao et al 1998, Holyoake et al 2001, St John et al 2001, Spiropoulos et al 2002, Thangaraj et al 2003, Kumar et al 2009, Baklouti-Gargouri et al 2013a,b, Colagar et al 2013, Chari et al 2015, Lu et al 2015).…”

Section: Human Case Studiesmentioning

confidence: 99%

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Maternal inheritance of mitochondria: implications for male fertility?

Vaught

Dowling

2018

Reproduction

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Evolutionary theory predicts maternal inheritance of the mitochondria will lead to the accumulation of mutations in the mitochondrial DNA (mtDNA) that impair male fertility, but leave females unaffected. The hypothesis has been referred to as 'Mother's Curse'. There are many examples of mtDNA mutations or haplotypes, in humans and other metazoans, associated with decreases in sperm performance, but seemingly few reports of associations involving female reproductive traits; an observation that has been used to support the Mother's Curse hypothesis. However, it is unclear whether apparent signatures of male bias in mitochondrial genetic effects on fertility reflect an underlying biological bias or a technical bias resulting from a lack of studies to have screened for female effects. Here, we conduct a systematic literature search of studies reporting mitochondrial genetic effects on fertility-related traits in gonochoristic metazoans (animals with two distinct sexes). Studies of female reproductive outcomes were sparse, reflecting a large technical sex bias across the literature. We were only able to make a valid assessment of sex specificity of mitochondrial genetic effects in 30% of cases. However, in most of these cases, the effects were male biased, including examples of male bias associated with mtDNA mutations in humans. These results are therefore consistent with the hypothesis that maternal inheritance has enriched mtDNA sequences with mutations that specifically impair male fertility. However, future research that redresses the technical imbalance in studies conducted per sex will be key to enabling researchers to fully assess the wider implications of the Mother's Curse hypothesis to male reproductive biology.Reproduction (2018) 155 R159-R168

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Section: Theory Linking the Mitochondria To Male Fertilitymentioning

confidence: 99%

Section: Human Case Studiesmentioning

confidence: 99%

Maternal inheritance of mitochondria: implications for male fertility?

Vaught

Dowling

2018

Reproduction

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“…This shift is founded on accumulating evidence, spanning vertebrate and invertebrate model systems, which indicates that the sequence polymorphism observed in mtDNA is ubiquitously tied to sizeable phenotypic effects [9][10][11][12][13]. Much of this evidence comes from studies that have associated putatively healthy mitochondrial genetic variants to phenotypic variation [14][15][16][17][18][19][20][21][22]. Other evidence comes from the medical sciences, where studies have reported associations between mutations in the human mitochondrial genome and deficiencies in mitochondrial function and the expression of disease [8,23].…”

Section: Introductionmentioning

confidence: 99%

Mitonuclear interactions: evolutionary consequences over multiple biological scales

Wolff

Ladoukakis

Enrı́quez

et al. 2014

Phil. Trans. R. Soc. B

204

218

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Fundamental biological processes hinge on coordinated interactions between genes spanning two obligate genomes—mitochondrial and nuclear. These interactions are key to complex life, and allelic variation that accumulates and persists at the loci embroiled in such intergenomic interactions should therefore be subjected to intense selection to maintain integrity of the mitochondrial electron transport system. Here, we compile evidence that suggests that mitochondrial–nuclear (mitonuclear) allelic interactions are evolutionarily significant modulators of the expression of key health-related and life-history phenotypes, across several biological scales—within species (intra- and interpopulational) and between species. We then introduce a new frontier for the study of mitonuclear interactions—those that occur within individuals, and are fuelled by the mtDNA heteroplasmy and the existence of nuclear-encoded mitochondrial gene duplicates and isoforms. Empirical evidence supports the idea of high-resolution tissue- and environment-specific modulation of intraindividual mitonuclear interactions. Predicting the penetrance, severity and expression patterns of mtDNA-induced mitochondrial diseases remains a conundrum. We contend that a deeper understanding of the dynamics and ramifications of mitonuclear interactions, across all biological levels, will provide key insights that tangibly advance our understanding, not only of core evolutionary processes, but also of the complex genetics underlying human mitochondrial disease.

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“…The most famous study of mtDNA haplotype variation on sperm motility was reported by Ruiz-Pesini et al 6 The authors showed that haplotype H was underrepresented and haplotype T was overrepresented in men with asthenozoospermic ejaculates, and a subsequent study provided some support for these findings. 10 However, other studies failed to identify an association between mtDNA and either sperm motility 11,12 or cellular bioenergetic parameters. 13 It is worth noting that all follow-up studies have been conducted with the common European mitochondrial DNA haplogroups.…”

Section: Introductionmentioning

confidence: 99%

Mitochondrial DNA haplogroup associated with sperm motility in the Han population

Feng

Zhang²,

Lin³

et al. 2013

Asian J Androl

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In this study, we aimed to determine whether the main mitochondrial DNA (mtDNA) haplogroups of the Han people have an impact on spermatozoa motility. We recruited 312 men who were consecutively admitted to two affiliated hospitals of College of Medicine, Zhejiang University from May 2011 to April 2012 as part of fertility investigations. Semen and whole blood samples were collected from the men. We determined the mtDNA haplogroups by analysing the sequences of mtDNA hypervariable segment I and testing diagnostic polymorphisms in the mtDNA coding region with DNA probes. No significant differences were found in the clinical characteristics of the mtDNA haplogroup R and non-R (P .0.05). Our results suggest that mtDNA haplogroup R is a strong independent predictor of sperm motility in the Han population, conferring a 2.97-fold (95% confidence interval: 1.74-4.48, P,0.001) decreased chance of asthenozoospermia compared with those without haplogroup R.

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Differences of sperm motility in mitochondrial DNA haplogroup U sublineages

Cited by 94 publications

References 31 publications

Maternal inheritance of mitochondria: implications for male fertility?

Maternal inheritance of mitochondria: implications for male fertility?

Mitonuclear interactions: evolutionary consequences over multiple biological scales

Mitochondrial DNA haplogroup associated with sperm motility in the Han population

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