Schuff Maximillian, Strong Amanda D, Welborn Lyvia K, Ziermann-Canabarro Janine M
Next Fertility St. Gallen, Kürsteinerstrasse 2, 9015 St. Gallen, Switzerland.
Department of Anatomy, Howard University College of Medicine, 520 W St. NW, Washington, DC 20059, USA.
Biology (Basel). 2024 Aug 31;13(9):682. doi: 10.3390/biology13090682.
The epigenetic phenomenon of genomic imprinting is puzzling. While epigenetic modifications in general are widely known in most species, genomic imprinting in the animal kingdom is restricted to autosomes of therian mammals, mainly eutherians, and to a lesser extent in marsupials. Imprinting causes monoallelic gene expression. It represents functional haploidy of certain alleles while bearing the evolutionary cost of diploidization, which is the need of a complex cellular architecture and the danger of producing aneuploid cells by mitotic and meiotic errors. The parent-of-origin gene expression has stressed many theories. Most prominent theories, such as the kinship (parental conflict) hypothesis for maternally versus paternally derived alleles, explain only partial aspects of imprinting. The implementation of single-cell transcriptome analyses and epigenetic research allowed detailed study of monoallelic expression in a spatial and temporal manner and demonstrated a broader but much more complex and differentiated picture of imprinting. In this review, we summarize all these aspects but argue that imprinting is a functional haploidy that not only allows a better gene dosage control of critical genes but also increased cellular diversity and plasticity. Furthermore, we propose that only the occurrence of allele-specific gene regulation mechanisms allows the appearance of evolutionary novelties such as the placenta and the evolutionary expansion of the eutherian brain.
基因组印记的表观遗传现象令人困惑。虽然表观遗传修饰在大多数物种中普遍为人所知,但动物界的基因组印记仅限于有胎盘类哺乳动物(主要是真兽类)的常染色体,在有袋类动物中程度较轻。印记导致单等位基因表达。它代表了某些等位基因的功能性单倍体状态,同时承担着二倍体化的进化成本,即需要复杂的细胞结构以及因有丝分裂和减数分裂错误而产生非整倍体细胞的风险。亲本来源的基因表达引发了许多理论。最著名的理论,如母源与父源等位基因的亲缘关系(亲本冲突)假说,只能解释印记的部分方面。单细胞转录组分析和表观遗传学研究的开展,使得人们能够从空间和时间角度详细研究单等位基因表达,并揭示了一幅更广泛但更为复杂和多样化的印记图景。在本综述中,我们总结了所有这些方面,但认为印记是一种功能性单倍体状态,它不仅能更好地控制关键基因的基因剂量,还能增加细胞多样性和可塑性。此外,我们提出,只有等位基因特异性基因调控机制的出现,才使得诸如胎盘和真兽类大脑进化扩张等进化新特征得以出现。