Koniukhov B V, Platonov E S
Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, 117809 Russia.
Genetika. 2001 Jan;37(1):5-17.
A review of the data on the mechanisms and effects of genomic imprinting, an epigenetic phenomenon regulating the development in placentate mammals, is presented. In contrast to the majority of gene loci with biallelic expression, the expression of imprinted loci is monoallelic. In humans and mice, more than 300 imprinted loci have been identified, in which maternal or paternal alleles may either be expressed or be found in a repressed state during ontogeny. Imprinting is established during gametogenesis, and the repression of an allele of the imprinted locus is determined by methylation of the key regulatory element of this allele. Both the maternal and paternal chromosome sets are required for normal development in mammals. This is why parthenogenesis and androgenesis in these animals are impossible in nature. As a result of differential gene expression of many imprinted loci, the balance of gene activity is established, which is necessary for normal proliferation and differentiation of various cell clones in embryogenesis. Many human developmental abnormalities and syndromes are determined by defective genomic imprinting. In particular, the loss of imprints, which is followed by the occurrence of biallelic expression of some imprinted loci, may cause malignant tumors.
本文对基因组印记的机制和影响的数据进行了综述,基因组印记是一种调节胎盘哺乳动物发育的表观遗传现象。与大多数双等位基因表达的基因座不同,印记基因座的表达是单等位基因的。在人类和小鼠中,已鉴定出300多个印记基因座,在个体发育过程中,母本或父本等位基因可能表达,也可能处于抑制状态。印记在配子发生过程中建立,印记基因座等位基因的抑制由该等位基因关键调控元件的甲基化决定。哺乳动物的正常发育需要母本和父本染色体组。这就是为什么这些动物的孤雌生殖和雄核发育在自然界中是不可能的。由于许多印记基因座的差异基因表达,建立了基因活性平衡,这对于胚胎发生中各种细胞克隆的正常增殖和分化是必要的。许多人类发育异常和综合征是由有缺陷的基因组印记决定的。特别是,印记的丢失,随后一些印记基因座出现双等位基因表达,可能导致恶性肿瘤。