Alterations in sperm DNA methylation patterns at imprinted loci in two classes of infertility

Hammoud, Saher Sue; Purwar, Jahnvi; Pflueger, Christian; Cairns, Bradley R.; Carrell, Douglas T.

doi:10.1016/j.fertnstert.2009.09.010

Cited by 263 publications

(215 citation statements)

References 38 publications

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“…[79][80][81][82][83][84][85][86] Abnormal methylation was observed in not only paternally methylated ICRs but also maternally methylated ICRs. At present, it is unclear how defects in methylation imprints are brought about in these patients, but one explanation could be aminoacid sequence variations in DNMT3L.…”

Section: Molar Pregnancy Infertility Assisted Reproductive Technolomentioning

confidence: 99%

Genomic imprinting and its relevance to congenital disease, infertility, molar pregnancy and induced pluripotent stem cell

Tomizawa

Sasaki

2012

J Hum Genet

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Genomic imprinting is an epigenetic gene-marking phenomenon that occurs in the germline, whereby genes are expressed from only one of the two parental copies in embryos and adults. Imprinting is essential for normal mammalian development and its disruption can cause various developmental defects and diseases. The process of imprinting in the germline involves DNA methylation of the imprint control regions (ICRs), and resulting parental-specific methylation imprints are maintained in the zygote and act as the marks controlling imprinted gene expression. Recent studies in mice have revealed new factors involved in imprint establishment during gametogenesis and maintenance during early development. Clinical studies have identified cases of imprinting disorders where involvement of factors shared by multiple ICRs for establishment or maintenance is suspected. These include Beckwith-Wiedemann syndrome, transient neonatal diabetes, Silver-Russell syndrome and others. More severe disruptions can lead to recurrent molar pregnancy, miscarriage or infertility. Imprinting defects may also occur during assisted reproductive technology or cell reprogramming. In this review, we summarize our current knowledge on the mechanisms of imprint establishment and maintenance, and discuss the relationship with various human disorders.

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Section: Molar Pregnancy Infertility Assisted Reproductive Technolomentioning

confidence: 99%

Genomic imprinting and its relevance to congenital disease, infertility, molar pregnancy and induced pluripotent stem cell

Tomizawa

Sasaki

2012

J Hum Genet

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“…Abnormal DNA methylation of H19 and MEST imprinted genes has also been shown to be associated with oligozoospermia [140], suggesting that spermatogenesis may be particularly vulnerable to changes in the methyl pool brought about by deficiency in MTHFR enzyme. Hammoud et al, [155] examined CpG methylation patterns in infertile (oligozoospermic and abnormal protamine) and fertile donors at seven imprinted loci including LIT1, MEST, SNRPN, PLAGL1, PEG3, H19, and IGF2. At six of the seven imprinted genes, the overall DNA methylation patterns were significantly altered in both infertile patient populations.…”

Section: Epigenetic Modifications and Male Infertilitymentioning

confidence: 99%

A multi-faceted approach to understanding male infertility: gene mutations, molecular defects and assisted reproductive techniques (ART)

Tahmasbpour

Balasubramanian

Agarwal

2014

J Assist Reprod Genet

105

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Background The assisted reproductive techniques aimed to assist infertile couples have their own offspring carry significant risks of passing on molecular defects to next generations. Results Novel breakthroughs in gene and protein interactions have been achieved in the field of male infertility using genome-wide proteomics and transcriptomics technologies. Conclusion Male Infertility is a complex and multifactorial disorder.Significance This review provides a comprehensive, up-todate evaluation of the multifactorial factors involved in male infertility. These factors need to be first assessed and understood before we can successfully treat male infertility.

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“…Even where the seminal parameters are normal, ejaculates showing sperm with high DNA damage have been reported 10, 11. Moreover, various epidemiological studies reporting the methylation status of imprinted genes of sperm from severely infertile men show a significant risk of imprinting disorders in offspring conceived by IVF and ICSI 18, 19, 20, 21, 22, 23, 24, 25, 26. These observations strongly argue that the sperm genome provides an epigenetically poised set of developmental genes that potentially have a crucial effect on embryological growth and development.…”

Section: Introductionmentioning

confidence: 99%

Guidance and Self‐Sorting of Active Swimmers: 3D Periodic Arrays Increase Persistence Length of Human Sperm Selecting for the Fittest

et al. 2017

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Male infertility is a reproductive disease, and existing clinical solutions for this condition often involve long and cumbersome sperm sorting methods, including preprocessing and centrifugation‐based steps. These methods also fall short when sorting for sperm free of reactive oxygen species, DNA damage, and epigenetic aberrations. Although several microfluidic platforms exist, they suffer from structural complexities, i.e., pumps or chemoattractants, setting insurmountable barriers to clinical adoption. Inspired by the natural filter‐like capabilities of the female reproductive tract for sperm selection, a model‐driven design, featuring pillar arrays that efficiently and noninvasively isolate highly motile and morphologically normal sperm, with lower epigenetic global methylation, from raw semen, is presented. The Simple Periodic ARray for Trapping And isolatioN (SPARTAN) created here modulates the directional persistence of sperm, increasing the spatial separation between progressive and nonprogressive motile sperm populations within an unprecedentedly short 10 min assay time. With over 99% motility of sorted sperm, a 5‐fold improvement in morphology, 3‐fold increase in nuclear maturity, and 2–4‐fold enhancement in DNA integrity, SPARTAN offers to standardize sperm selection while eliminating operator‐to‐operator variations, centrifugation, and flow. SPARTAN can also be applied in other areas, including conservation ecology, breeding of farm animals, and design of flagellar microrobots for diagnostics.

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Alterations in sperm DNA methylation patterns at imprinted loci in two classes of infertility

Cited by 263 publications

References 38 publications

Genomic imprinting and its relevance to congenital disease, infertility, molar pregnancy and induced pluripotent stem cell

Genomic imprinting and its relevance to congenital disease, infertility, molar pregnancy and induced pluripotent stem cell

A multi-faceted approach to understanding male infertility: gene mutations, molecular defects and assisted reproductive techniques (ART)

Guidance and Self‐Sorting of Active Swimmers: 3D Periodic Arrays Increase Persistence Length of Human Sperm Selecting for the Fittest

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