Department of Medical Genetics, Molecular Epigenetics Group, Life Sciences Institute, University of British Columbia, Vancouver, Canada.
Reprod Biomed Online. 2012 Jul;25(1):44-57. doi: 10.1016/j.rbmo.2012.03.019. Epub 2012 Apr 4.
Imprinted genes represent a unique class of autosomal genes expressed from only one of the parental alleles during development. The choice of the expressed allele is not random but rather is determined by the parental origin of the allele. Consequently, the mouse genome contains more than 100 genes expressed preferentially or exclusively from the maternally or the paternally inherited allele. Current research efforts are focused on understanding the molecular mechanism of this epigenetic phenomenon as well as the biological functions of the genes under its regulation. Both theoretical considerations and experimental results support a role for genomic imprinting in the regulation of embryonic growth and placental biology. In this review, recent efforts to establish the complete set of genes showing imprinted expression in the mouse placenta are first discussed. Then, the evidence suggesting that imprinted genes might be implicated in the emergence, maintenance and function of trophoblast glycogen cells is presented. Although the origin and functions of this trophoblast cell lineage are currently unknown, the analysis of mutations in imprinted genes in the mouse are providing new insights into these issues. The implications of this work for placental pathologies in human are also discussed.
印迹基因是一类独特的常染色体基因,它们在发育过程中仅从父母双方的一个等位基因中表达。被表达的等位基因的选择不是随机的,而是由等位基因的亲本来源决定的。因此,小鼠基因组包含 100 多个优先或仅从母系或父系遗传等位基因表达的基因。目前的研究重点是了解这种表观遗传现象的分子机制以及受其调控的基因的生物学功能。理论考虑和实验结果都支持基因组印迹在胚胎生长和胎盘生物学调控中的作用。在这篇综述中,首先讨论了为确定在小鼠胎盘上表达印迹的完整基因集所做的最新努力。然后,提出了印迹基因可能与滋养层糖原细胞的出现、维持和功能有关的证据。尽管这个滋养层细胞谱系的起源和功能目前尚不清楚,但对小鼠中印迹基因突变的分析为这些问题提供了新的见解。还讨论了这项工作对人类胎盘病理学的影响。