McGrath J, Solter D
Nature. 1984;308(5959):550-1. doi: 10.1038/308550a0.
The Thp mutation, an allele of the mouse T/t complex, differs from other known mutations in that its effects are determined by the sex of the parent from which it is inherited; when inherited from the female parent, it is invariably lethal at the embryonic stage, but, most embryos which inherit the mutation from the male parent survive. Thus most heterozygous embryos carrying the maternally derived mutation die in the second half of pregnancy, while the exceptional embryos surviving to parturition give oedematous, cyanotic individuals that die within 24 h. The lethal maternal effect of Thp may be transmitted either through the cytoplasm of the ovum (oogenic defect) or through the female pronucleus (embryogenic defect). Here we have sought to decide between these possibilities by performing reciprocal nuclear transplantations between one-cell embryos from Thp/+ and +/+ females. Our observation that this maternally inherited lethal effect of Thp persists when Thp/+ pronuclei are transplanted into +/+ cytoplasm suggests that the defect responsible for the pattern of inheritance lies in the pronuclei and not the cytoplasm.
Thp突变是小鼠T/t复合体的一个等位基因,它与其他已知突变的不同之处在于,其效应取决于遗传它的亲本的性别;当从母本遗传时,它在胚胎阶段总是致死的,但大多数从父本遗传该突变的胚胎能够存活。因此,大多数携带母源突变的杂合胚胎在妊娠后半期死亡,而存活至分娩的异常胚胎会产出水肿、发绀的个体,这些个体在24小时内死亡。Thp的母源致死效应可能通过卵子的细胞质(卵子发生缺陷)或雌性原核(胚胎发生缺陷)传递。在这里,我们试图通过在Thp/+和+/+雌性的单细胞胚胎之间进行相互核移植来确定这些可能性。我们观察到,当将Thp/+原核移植到+/+细胞质中时,Thp的这种母源遗传致死效应仍然存在,这表明负责遗传模式的缺陷在于原核而非细胞质。