Leighton P A, Ingram R S, Eggenschwiler J, Efstratiadis A, Tilghman S M
Howard Hughes Medical Institute, Princeton University, New Jersey 08544, USA.
Nature. 1995 May 4;375(6526):34-9. doi: 10.1038/375034a0.
The imprinted H19 gene, which encodes an untranslated RNA, lies at the end of a cluster of imprinted genes in the mouse. Imprinting of the insulin-2 and insulin-like growth factor 2 genes, which lie about 100 kilobases upstream of H19, can be disrupted by maternal inheritance of a targeted deletion of the H19 gene and its flanking sequence. Animals inheriting the H19 mutation from their mothers are 27% heavier than those inheriting it from their fathers. Paternal inheritance of the disruption has no effect, which presumably reflects the normally silent state of the paternal gene. The somatic overgrowth of heterozygotes for the maternal deletion is attributed to a gain of function of insulin-like growth factor 2, rather than a loss of function of H19.
印记基因H19编码一种非翻译RNA，位于小鼠印记基因簇的末端。胰岛素-2基因和胰岛素样生长因子2基因的印记位于H19上游约100千碱基处，H19基因及其侧翼序列的靶向缺失通过母系遗传可破坏这两个基因的印记。从母亲那里继承H19突变的动物比从父亲那里继承该突变的动物重27%。该突变的父系遗传没有影响，这大概反映了父本基因通常的沉默状态。母系缺失杂合子的体细胞过度生长归因于胰岛素样生长因子2功能的获得，而不是H19功能的丧失。
