期刊
JOURNAL OF HUMAN GENETICS
卷 57, 期 2, 页码 84-91出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/jhg.2011.151
关键词
DNA methylation; germ cells; imprinting; induced pluripotent stem cells; infertility; molar pregnancy; reproduction
资金
- UK Medical Research Council
- Ministry of Education, Culture, Sports, Science, and Technology of Japan
- Grants-in-Aid for Scientific Research [20062010, 23249019] Funding Source: KAKEN
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. Journal of Human Genetics (2012) 57, 84-91; doi:10.1038/jhg.2011.151; published online 12 January 2012
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