Mitochondrial DNA haplogroup associated with sperm motility in the Han population

Feng, Guofang; Zhang, Jing; Lin, Feng; Nai-xian, Shen; Li, Lejun; Zhu, Yimin

doi:10.1038/aja.2013.83

Cited by 21 publications

(16 citation statements)

References 23 publications

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“…Unfortunately, the potential nature of these two deletions remains uncertain. Somatic mtDNA genetic abnormalities have been identified to be associated with poor sperm quality and infertility (Feng et al, 2008(Feng et al, , 2013Hosseinzadeh Colagar & Karimi, 2014;Mao et al, 2015;Pereira et al, 2005;Spiropoulos et al, 2002). In this study, we identified the homozygous variant G9053A in MT-ATP6 in 4 of the 73 cases with IVF failure, whereas this substitution was not detected in the control group (p50.01).…”

Section: Discussioncontrasting

confidence: 74%

“…However, another study showed that mtDNA haplogroup R might be a strong, independent predictor of sperm motility in the Han Chinese population (Feng et al, 2013). Here, we tested whether four mtDNA haplogroups (M, N, Z and B) were associated with sperm motility and fertilization failure.…”

Section: Discussionmentioning

confidence: 97%

“…Mitochondria carry and encode the mitochondrial respiratory-chain complex and then play a key role in the energy production and maintenance of sperm motility (Carra et al, 2004). Somatic mtDNA genetic abnormalities, including point mutations (Feng et al, 2008;Spiropoulos et al, 2002) and deletions (Feng et al, 2008;Hosseinzadeh Colagar & Karimi, 2014), and the presence of a specific mtDNA haplogroup (Feng et al, 2013;Pereira et al, 2005) have been identified as being associated with poor sperm quality and infertility. In our previous study, we found that polymorphisms in the MT-ATP6 might contribute to IVF failure (Mao et al, 2015).…”

Section: Introductionmentioning

confidence: 98%

See 2 more Smart Citations

The analysis of mitochondrial DNA haplogroups and variants for in vitro fertilization failure in a Han Chinese population

Mao¹,

Lü²,

Huang³

et al. 2015

Mitochondrial DNA Part A

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In this study, we aimed to investigate the associations of mitochondrial DNA (mtDNA) haplogroups and variants with in vitro fertilization (IVF) failure. A retrospective, comparative study of 260 fresh IVF cycles in a Han Chinese population was performed from July 2011 to April 2014. Seventy-three couples had low fertilization rates (≤30%) or total fertilization failure, and 187 controls with normal fertilization were included. Human sperm mtDNA haplogroups and variants were determined by polymerase chain reaction (PCR), nested PCR and direct sequencing. One unreported point variant, A15397G, and two novel deletions at positions 8270-8278 and 8276-8284 were found in this study. A homozygous variant, G9053A in MT-ATP6, was detected in 4 of the 73 cases with fertilization failure, whereas this substitution was not detected in the control group (p < 0.01). The frequency of the point 10397 homozygous variant in MT-ND3 in the IVF failure group was markedly lower than that in the control group (p < 0.05). Furthermore, this study showed that the frequencies of point 8701 and 8943 heterozygous variants in MT-ATP6 in the IVF failure group were also markedly lower than those in the control group (p < 0.05). In addition, the frequency of haplogroup Z was markedly higher in the IVF failure group than in the control group (p < 0.05). Our results suggested that MT-ATP6 variants might be possible causes of IVF failure, but the 10397 homozygous variant in MT-ND3 might help decrease the risk of developing IVF failure. Furthermore, this study indicated that men with haplogroup Z might inherit a higher risk of IVF failure in the Han Chinese population.

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Section: Discussioncontrasting

confidence: 74%

Section: Discussionmentioning

confidence: 97%

Section: Introductionmentioning

confidence: 98%

See 1 more Smart Citation

The analysis of mitochondrial DNA haplogroups and variants for in vitro fertilization failure in a Han Chinese population

Mao¹,

Lü²,

Huang³

et al. 2015

Mitochondrial DNA Part A

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show abstract

“…Since those authors sequenced only the hypervariable region, they were not able to correlate the male infertility with mtDNA haplogroup. Feng et al (2013) found a strong correlation between the hypervariable d-loop region haplogroup R and sperm motility in Han population. Thus, some mtDNA fragments supported no correlation between mitogenome and male infertility and others supported this correlation.…”

Section: Discussionmentioning

confidence: 82%

Forensic Relationship between ATP6 Gene and Sperm Motility in a Saudi Population

Elsanousi¹,

Javed²,

Sufyan³

et al. 2020

American Journal of Biochemistry and Biotechnology

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Approximately 600 bp of ATP synthase subunit 6 mitochondrial gene (ATP6) were amplified and sequenced for 110 semen samples collected from infertile and normal Saudi men inhabiting Riyadh province. These data were analyzed in order to identify the Single Nucleotide Polymorphisms (SNPs) associated with male infertility. Six silent substitutions G8697A, G8856A, T8889C, T8952C, C9075T and C9060A were recorded with one novel site (G8856A) in the infertile men. Seven non-synonymous substitutions were also obtained with 4 novel sites (C8684T, G8860A, C8876T and G9055A) in the infertile men. Nine haplogroups (H2a, H1a, H5a, T, J2a, K1a, N1b, M25 and U7) were predicted. H5a, M25 and U7 were found in the oligoasthenoteratospermic (AOT) infertile men only with a percentage of 4.5%. It could be concluded that there was a correlation between ATP6 substitutions/haplogroups and male infertility since specific SNPs and haplogroups appeared in the AOT infertile men only. The present results are considered preliminary for using the mitogenome of the infertile men in a forensic perspective. More mtDNA data from infertile men are necessary to assess mtDNA forensic contributions in male fertility. Examination of autosomal Short Tandem Repeats (STRs) and Y chromosome-STR profiles for infertile men should be conducted to ascertain any changes in the genetic loci.

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“…Nonetheless, the significance of the sex-biased, mitochondrial selective sieve as a contributor to variation in male fertility and sperm traits remains controversial and inadequately investigated. Several studies have reported marked effects of mitochondrial haplogroup on sperm motility in humans and other taxa [16][17][18][19][20][21], while others have failed to find an association [22,23]. Even less well understood are the contributions of mitochondrial DNA (mtDNA) variation to female re-mating behaviour and sperm competitive ability (but see [24][25][26]).…”

Section: Introductionmentioning

confidence: 99%

Sisters' curse: sexually antagonistic effects constrain the spread of a mitochondrial haplogroup superior in sperm competition

et al. 2014

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Maternal inheritance of mitochondria creates a sex-specific selective sieve with implications for male longevity, disease susceptibility and infertility. Because males are an evolutionary dead end for mitochondria, mitochondrial mutations that are harmful or beneficial to males but not females cannot respond directly to selection. Although the importance of this male/female asymmetry in evolutionary response depends on the extent to which mitochondrial mutations exert antagonistic effects on male and female fitness, few studies have documented sex-specific selection acting on mitochondria. Here, we exploited the discovery of two highly divergent mitochondrial haplogroups (A and B2) in central Panamanian populations of the pseudoscorpion Cordylochernes scorpioides. Next-generation sequencing and phylogenetic analyses suggest that selection on the ND4 and ND4L mitochondrial genes may partially explain sexually antagonistic mitochondrial effects on reproduction. Males carrying the rare B2 mitochondrial haplogroup enjoy a marked advantage in sperm competition, but B2 females are significantly less sexually receptive at second mating than A females. This reduced propensity for polyandry is likely to significantly reduce female lifetime reproductive success, thereby limiting the spread of the male beneficial B2 haplogroup. Our findings suggest that maternal inheritance of mitochondria and sexually antagonistic selection can constrain male adaptation and sexual selection in nature.

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Mitochondrial DNA haplogroup associated with sperm motility in the Han population

Cited by 21 publications

References 23 publications

The analysis of mitochondrial DNA haplogroups and variants for in vitro fertilization failure in a Han Chinese population

The analysis of mitochondrial DNA haplogroups and variants for in vitro fertilization failure in a Han Chinese population

Forensic Relationship between ATP6 Gene and Sperm Motility in a Saudi Population

Sisters' curse: sexually antagonistic effects constrain the spread of a mitochondrial haplogroup superior in sperm competition

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