Kagami Masayo, Hara-Isono Kaori, Sasaki Aiko, Amita Mitsuyoshi
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Epigenomics. 2025 Apr;17(6):397-410. doi: 10.1080/17501911.2025.2471269. Epub 2025 Mar 3.
Aberrant expression of imprinted genes results in imprinting disorders (IDs). Differentially methylated regions (DMRs) reveal parental-origin-specific DNA methylation on CpGs and regulate the expression of the imprinted genes. One etiology of IDs is epimutation (epi-IDs) induced by some error in the establishment or maintenance of methylation imprint during the processes of gametogenesis, fertilization, or early embryonic development. Therefore, it has been a concern that assisted reproductive technologies (ART) increase the risk for the development of IDs, particularly epi-IDs. We review the effects of ART on DNA methylation of the genome, including DMRs in gametes, embryos, and offspring, and the risk of advanced parental age (a confounding factor of ART) and infertility itself for the development of IDs, particularly epi-IDs.
印迹基因的异常表达会导致印迹障碍（ID）。差异甲基化区域（DMR）揭示了CpG上亲本来源特异性的DNA甲基化，并调控印迹基因的表达。ID的一种病因是在配子发生、受精或早期胚胎发育过程中，甲基化印迹的建立或维持出现某些错误所导致的表型突变（表型突变型ID）。因此，辅助生殖技术（ART）会增加ID尤其是表型突变型ID发生风险，这一直是人们关注的问题。我们综述了ART对基因组DNA甲基化的影响，包括配子、胚胎和后代中的DMR，以及高龄父母（ART的一个混杂因素）和不孕本身对ID尤其是表型突变型ID发生的风险。
