Paoloni-Giacobino Ariane
Department of Genetic Medicine and Development, University of Geneva Medical School, Switzerland.
Pediatr Res. 2007 May;61(5 Pt 2):51R-57R. doi: 10.1203/pdr.0b013e318039d978.
Imprinted genes comprise a small subset of the genome whose epigenetic reprogramming in the germ line is necessary for subsequent normal embryonic development. This reprogramming and resetting of the imprints, through an erasure/acquisition/maintenance cycle, is a subtle and tightly orchestrated phenomenon, involving specific genomic regions and methylation enzymes. Dysregulation of imprinted genes has indeed been shown to lead to several human disorders as well as to affect placental and fetal growth. There have been numerous and conflicting studies assessing the possible association of imprinting disorders with assisted reproductive techniques. This work analyzes all relevant and available reports with regard to the association between assisted reproductive techniques and imprinting disorders. It also discusses whether this possibly increased risk of imprinting disorders may be linked to specific steps of these reproductive techniques or already present in the gametes of infertile patients. A better understanding of epigenetic reprogramming in the germ line is absolutely necessary both to assess the safety of these methods and of the use of impaired spermatogenesis gametes for assisted reproduction.
印记基因构成了基因组中的一个小子集，其在生殖系中的表观遗传重编程对于随后正常的胚胎发育是必要的。通过擦除/获得/维持循环对印记进行的这种重编程和重置是一种微妙且精心编排的现象，涉及特定的基因组区域和甲基化酶。事实上，印记基因的失调已被证明会导致多种人类疾病，并影响胎盘和胎儿的生长。有许多相互矛盾的研究评估了印记障碍与辅助生殖技术之间可能存在的关联。这项工作分析了所有关于辅助生殖技术与印记障碍之间关联的相关且可得的报告。它还讨论了这种可能增加的印记障碍风险是否可能与这些生殖技术的特定步骤有关，或者是否已经存在于不育患者的配子中。为了评估这些方法以及使用受损精子发生的配子进行辅助生殖的安全性，对生殖系中的表观遗传重编程有更好的理解绝对必要。
