Methylation defects of imprinted genes in human testicular spermatozoa

Marques, C. Joana; Francisco, Tânia; Sousa, S.; Carvalho, Filipa; Barros, Alberto; Sousa, Mário

doi:10.1016/j.fertnstert.2009.02.051

Cited by 111 publications

(85 citation statements)

References 51 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: 98%

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: 98%

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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“…Methylated region of long QT intronic transcript 1 (DMR-LIT1) is an imprinting control region, and its demethylation is associated with Beckwith-Wiedemann Syndrome [45]. Several studies have demonstrated a significant association between methylation statuses of both maternally and paternally imprinted genes and sperm abnormalities and are summarized in Table 1 [22,38,57,58,[62][63][64][65] (Table 1).…”

Section: Methylation Of Imprinted Genesmentioning

confidence: 99%

The role of epigenetics in idiopathic male infertility

Güneş

Arslan

Hekim

et al. 2016

J Assist Reprod Genet

100

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Infertility is a complex disorder with multiple genetic and environmental causes. Although some specific mutations have been identified, other factors responsible for sperm defects remain largely unknown. Despite considerable efforts to identify the pathophysiology of the disease, we cannot explain the underlying mechanisms of approximately half of infertility cases. This study reviews current data on epigenetic regulation and idiopathic male infertility. Recent data have shown an association between epigenetic modifications and idiopathic infertility. In this regard, epigenetics has emerged as one of the promising research areas in understanding male infertility. Many studies have indicated that epigenetic modifications, including DNA methylation in imprinted and developmental genes, histone tail modifications and short non-coding RNAs in spermatozoa may have a role in idiopathic male infertility.

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“…Even though the reported epidemiological data lead one to consider maternal methylation defects exclusively, a relationship between male infertility and imprinting abnormalities in the sperm has also been described. [18][19][20][21][22][23][24][25][26] Since paternal imprinted genes mainly contribute to extra-embryonic tissue development, it is not discarded that loss of imprinting (LOI) at paternal methylated loci could cause phenotypes that prevent placenta development or could cause intrauterine growth retardation (IUGR). IUGR has been described as being associated with imprinting defects 8 and also related to assisted reproduction.…”

Section: Introductionmentioning

confidence: 99%