Methylation changes in mature sperm deoxyribonucleic acid from oligozoospermic men: assessment of genetic variants and assisted reproductive technology outcome

Montjean, Debbie; Ravel, Célia; Benkhalifa, Moncef; Cohen-Bacrie, P.; Berthaut, Isabelle; Bashamboo, Anu; McElreavey, Kenneth

doi:10.1016/j.fertnstert.2013.06.047

Cited by 71 publications

(51 citation statements)

References 38 publications

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“…If epigenetic modifications are a key factor in the maturation of sperm cells, alterations in the epigenetic patterns of infertile men may provide a reasonable explanation for complications associated with ART, including low birth weight, premature births, congenital abnormalities, an increased perinatal mortality rate and pregnancy complications (116,117). Embryos obtained from patients with hypospermatogenesis and almost complete hypomethylation at the H19 DMR following ART all exhibited developmental arrest (117,118). However, patients with oligoasthenoteratozoospermia with a partial hypomethylation of H19 presented a reduced fertilization rate following intracytoplasmic sperm injection (ICSI).…”

Section: Dna Methylation and Male Infertilitymentioning

confidence: 99%

DNA methylation in spermatogenesis and male infertility

Cui¹,

Xuan

Wu³

et al. 2016

Experimental and Therapeutic Medicine

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Abstract. Infertility is a significant problem for human reproduction, with males and females equally affected. However, the molecular mechanisms underlying male infertility remain unclear. Spermatogenesis is a highly complex process involving mitotic cell division, meiosis cell division and spermiogenesis; during this period, unique and extensive chromatin and epigenetic modifications occur to bring about specific epigenetic profiles in spermatozoa. It has recently been suggested that the dysregulation of epigenetic modifications, in particular the methylation of sperm genomic DNA, may serve an important role in the development of numerous diseases. The present study is a comprehensive review on the topic of male infertility, aiming to elucidate the association between sperm genomic DNA methylation and poor semen quality in male infertility. In addition, the current status of the genetic and epigenetic determinants of spermatogenesis in humans is discussed. Contents1. Introduction 2. DNA methylation 3. DNA methylation and spermatogenesis 4. DNA methylation and genomic imprinting 5. DNA methylation and male infertility 6. Conclusion IntroductionEpigenetics is the study of genomic structural modifications that affect gene expression without altering the underlying nucleotide sequence (1-3). Epigenetic mechanisms involved in the regulation of gene expression include the regulation of non-coding RNA, chromatin remodeling, DNA methylation and histone modifications (4,5). Of these mechanisms, DNA methylation has been implicated in numerous biological functions, such as the development of spermatozoa and early embryos, and the repression of endogenous retrotransposons, while it also has a wide range of effects in gene expression (2,3,6). The dysregulation of DNA methylation has previously been associated with various human disorders, and has been shown to increase the risk of fertilization failure, dysfunction in embryogenesis, perinatal mortality, congenital abnormalities, preterm birth and low birth weight (7-11). The present review assesses the significance of DNA methylation in spermatogenesis in order to elucidate the association between the dysregulation of DNA methylation and male infertility. This may provide a basis for the prevention and treatment of male infertility, as well as permit the evaluation of the epigenetic quality of sperm in order to reduce the risk of epigenetic diseases in cases where conception is performed by assisted reproductive technology (ART). DNA methylationEpigenetic mechanisms are critical regulators of gene expression during spermatogenesis that may influence male fertility (12-14). Cytosine, a key DNA base, is methylated at the position, typically in the context of CpG dinucleotides. The methylation of constitutive heterochromatic and promoter regions is generally associated with reduced gene transcription (Fig. 1A) (15-18). Therefore, DNA methylation is a type of epigenetic modification that can effectively promote gene silencing (Fig. 1B). The methyl group for this chemical modif...

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Section: Dna Methylation and Male Infertilitymentioning

confidence: 99%

DNA methylation in spermatogenesis and male infertility

Cui¹,

Xuan

Wu³

et al. 2016

Experimental and Therapeutic Medicine

View full text Add to dashboard Cite

show abstract

“…Others have corroborated this methylation pattern seen in the H19 gene in further studies with oligozoospermic men [8,9,57]. Interestingly, Minor et al, found that sperm retrieved from the testes of men with obstructive azoospermia also demonstrated hypomethylation of H19, suggesting that aberrant methylation may be a product of the testicular environment and not singularly due to spermatogenesis failure [10].…”

Section: Dna Methylation In Sperm Function and Male Infertilitymentioning

confidence: 77%

Sperm DNA Methylation, Infertility and Transgenerational Epigenetics

Carroll¹

2015

GGS

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“…Rodent models showed that exposure to these molecules triggers DNA hypomethylation in sperm along with a dose-dependent drop in sperm counts, impaired testicular histology, reduced sperm production and infertility [29,30] . Interestingly, preliminary observations made in rodents were confirmed in humans since methylation changes in sperm DNA have also been identified in men showing disruptive spermatogenesis and more recently in idiopathic infertility cases [31][32][33][34][35][36][37][38][39][40] . As analyses of DNA methylation pattern in Differentially Methylated Regions (DMRs) of H19 and PEG1/MEST in men with disruptive spermatogenesis clearly showed a link between reduced sperm counts and abnormal methylation [31] , several studies broaden DMRs analysis, including a larger number of genes: IGF2, PEG3, ZAC, LIT1, SNRPN as well as non-imprinted repetitive elements, such as long interspersed nucleotide elements (LINE1) and Alu elements, as surrogates for genomewide DNA methylation changes [33,35] .…”

Section: Consequences Of Changes In Sperm Dna Methylation On Male Fermentioning

confidence: 86%

Male fertility: Genome integrity and sperm DNA methylation

Montjean

Ravel

2016

Stem Cell Epigenet

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Male infertility is a complex multifactorial pathology that correlates in some extent with semen parameters including sperm counts, motility, morphology, viability and nucleus integrity. The large debate surrounding global decline of semen parameters motivated numerous studies dealing with this important issue. The present article reviews different factors shown to impact on male fertility by affecting semen parameters, namely, epigenetics and sperm genome integrity.To cite this article: Debbie Montjean, et al. Male fertility: Genome integrity and sperm DNA methylation. Stem Cell Epigenet 2016; 3: e1106.

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Methylation changes in mature sperm deoxyribonucleic acid from oligozoospermic men: assessment of genetic variants and assisted reproductive technology outcome

Cited by 71 publications

References 38 publications

DNA methylation in spermatogenesis and male infertility

DNA methylation in spermatogenesis and male infertility

Sperm DNA Methylation, Infertility and Transgenerational Epigenetics

Male fertility: Genome integrity and sperm DNA methylation

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