Platonov E S
Ontogenez. 2005 Jul-Aug;36(4):300-9.
Genomic imprinting belongs by its nature to problems of epigenetics, which studies hereditary changes in gene expression not related to defective sequences of DNA nucleotides. Epigenetic mechanisms of control, including genomic imprinting, are involved in many processes of normal and pathological development of humans and animals. Disturbances of genomic imprinting may lead to various consequences, such as formation of developmental anomalies and syndromes in humans, appearance of the large offspring syndrome and increased mortality upon cloning of mammals, and death of parthenogenetic embryos soon after implantation and beginning of organogenesis. The death of diploid parthenogenetic or androgenetic mammalian embryos is determined by the absence of expression of the genes of imprinted loci of the maternal or paternal genome, which leads to significant defects in development of tissues and organs. A review is provided of the studies aimed at search of possible normalization of misbalanced gene activity and modulation of genomic imprinting effects during parthenogenetic development in mammals.
基因组印记本质上属于表观遗传学问题,表观遗传学研究的是与DNA核苷酸序列缺陷无关的基因表达的遗传变化。包括基因组印记在内的表观遗传调控机制参与了人类和动物正常及病理发育的许多过程。基因组印记的紊乱可能导致各种后果,如人类发育异常和综合征的形成、哺乳动物克隆时出现大后代综合征和死亡率增加,以及孤雌生殖胚胎在植入和器官发生开始后不久死亡。二倍体孤雌生殖或雄核发育的哺乳动物胚胎的死亡是由母本或父本基因组印记位点的基因缺乏表达所决定的,这会导致组织和器官发育出现严重缺陷。本文综述了旨在寻找哺乳动物孤雌生殖发育过程中基因活性失衡可能的正常化方法以及调节基因组印记效应的研究。