STAGGERER CHIMERAS - INTRINSIC NATURE OF PURKINJE-CELL DEFECTS AND IMPLICATIONS FOR NORMAL CEREBELLAR DEVELOPMENT
STAGGERER CHIMERAS - INTRINSIC NATURE OF PURKINJE-CELL DEFECTS AND IMPLICATIONS FOR NORMAL CEREBELLAR DEVELOPMENT
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DOI：
10.1016/0006-8993(79)90705-4
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发表时间：
1979-01-01
期刊：
影响因子：
2.9
通讯作者：
MULLEN, RJ
中科院分区：
文献类型：
--
作者：
HERRUP, K;MULLEN, RJ
用Staggerer .tautm研究了小鼠Staggerer突变的基因作用位点。野生型嵌合体。纯合子错开小鼠由于小脑异常表现出严重的运动困难，包括几乎所有颗粒细胞的变性和浦肯野细胞的细胞学缺陷。虽然嵌合体中不存在突变体的运动缺陷，但交错细胞的存在影响了小脑结构。嵌合小脑的大小和叶化程度介于野生型和纯合型之间。存在正常比例的颗粒细胞层。-葡萄糖醛酸苷酶作为细胞基因型的独立决定因素，表明基因典型的Staggerer中大型神经元在纯合突变体中表达了在这些细胞中观察到的所有轻显微镜缺陷。这些缺陷包括：尺寸较小；通常是异位；核周细胞学外观的区域差异。相比之下，所有基因典型野生型浦肯野细胞在大小、位置和细胞学外观上都是正常的。它们的密度大大低于野生型。Staggerer突变对颗粒细胞、星状细胞和篮状细胞的影响不能直接评估，因为葡萄糖醛酸酶标记物不适合用于这些细胞。因此，交错基因直接作用于浦肯野细胞，而不是通过细胞外环境的变化。研究结果讨论了其对正常小脑发育的影响。
The site of gene action of the Staggerer mutation of mice was investigated with Staggerer .tautm. wild-type chimeras. Homozygous Staggerer mice show severe locomotor difficulties due to cerebellar abnormalities which include degeneration of virtually all granule cells and cytological defects in Purkinje cells. Although the locomotor deficits of the mutant were not present in the chimeras, the presence of Staggerer cells affected cerebellar structure. The size and the extent of foliation of the chimeric cerebella were intermediate between wild-type and homozygous Staggerer. A normally proportioned granule cell layer was present. .beta.-Glucuronidase used as an independent determinant of a cell''s genotype, it showed that the genotypically Staggerer medium-to-large neurons expressed all of the light microscopic defects observable in these cells in the homozygous mutant. These defects included: smaller size; usually ectopic location; and regional variation in the cytological appearance of the perikaryon. By contrast, all Purkinje cells which were genotypically wild-type appeared normal in size, in location and in their cytological appearance. Their density was much reduced from wild-type. The effects of the Staggerer mutation on the granule, stellate and basket cells could not be directly assessed as the glucuronidase marker is not suitable for use with these cells. The Staggerer gene thus acts directly on Purkinje cells rather than via extracellular environmental changes. The findings are discussed in terms of their implications for normal cerebellar development.