Peters L L, Barker J E
Jackson Laboratory, Bar Harbor, Maine 04609.
Cell. 1993 Jul 16;74(1):135-42. doi: 10.1016/0092-8674(93)90301-6.
The phenotype of the autosomal recessive mutation scat includes severe intermittent bleeding, depletion of platelets, and circulating anti-platelet antibodies. In this study, we have mapped the scat mutation to mouse chromosome 8 and shown that the immune component is a secondary consequence of the gene defect. Surprisingly, the phenotype of the scat/scat pups depends on the genotype of the mother. Maternal homozygosity prevents disease transmission; crosses between scat homozygotes produce few affected young, while the expected frequency is generated from normal (+/+) mice bearing scat/scat ovaries. The results suggest a novel method of maternal-fetal interaction that relies neither on transfer of maternal mitochondria nor on parental imprinting. We conclude that contribution from the maternal wild-type allele is required for expression of the scat phenotype in homozygotes.
常染色体隐性突变scat的表型包括严重的间歇性出血、血小板耗竭以及循环抗血小板抗体。在本研究中，我们已将scat突变定位到小鼠8号染色体上，并表明免疫成分是基因缺陷的次要后果。令人惊讶的是，scat/scat幼崽的表型取决于母亲的基因型。母本纯合性可阻止疾病传播；scat纯合子之间的杂交产生的患病幼崽很少，而从携带scat/scat卵巢的正常（+/+）小鼠中则会产生预期频率的患病幼崽。这些结果提示了一种新型的母胎相互作用方式，该方式既不依赖于母本线粒体的传递，也不依赖于亲本印记。我们得出结论，纯合子中scat表型的表达需要母本野生型等位基因的贡献。
