The effect of trisomy 21 on the patterns of polypeptide synthesis in human fibroblasts.
The effect of trisomy 21 on the patterns of polypeptide synthesis in human fibroblasts.
复制标题
21 三体对人成纤维细胞多肽合成模式的影响。
DOI：
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发表时间：
1979
影响因子：
9.8
通讯作者：
C. Epstein
中科院分区：
文献类型：
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作者：
J. Weil;C. Epstein
除了直接的基因剂量效应之外，非整倍性的有害表型后果可能是由于对其他染色体编码的基因产物的产生和降解的二次调节效应造成的。在对广泛的次级效应在非整倍性的表型后果中发挥重要作用的假设的初步测试中，我们使用二维凝胶电泳和放射自显影来寻找体外生长的人成纤维细胞合成的多肽中的此类次级效应。将来自四名 21 三体受试者和一名 21 三体/正常嵌合体的成纤维细胞菌株的多肽模式与来自五名匹配的正常受试者的成纤维细胞菌株的多肽模式进行比较。在大约 850 个可视化的多肽中，只有 4 个显示出可能与 21 三体性相关的变异模式。在菌株之间发现了多肽浓度的其他差异，这可归因于供体个体之间的遗传异质性和来源组织的差异。这些结果表明，至少在体外的成纤维细胞中，21三体不会引起大量多肽的产生和降解速率的重大调节变化。
In addition to direct gene dosage effects, the deleterious phenotypic consequences of aneuploidy may result from secondary regulatory effects on the production and degradation of gene products coded for by other chromosomes. In an initial test of the hypothesis that extensive secondary effects play an important role in the phenotypic consequences of aneuploidy, we have used two-dimensional gel electrophoresis with radioautography to look for such secondary effects among the polypeptides synthesized by human fibroblasts grown in vitro. The polypeptide patterns of fibroblast strains from four trisomy 21 subjects and one trisomy 21/normal mosaic were compared to those from five matched normal subjects. Of approximately 850 polypeptides visualized, only four show a pattern of variation which may be related to trisomy 21. Additional differences in polypeptide concentrations were found among the strains, attributable to genetic heterogeneity between donor individuals and differences in tissue of origin. These results indicate that, at least in fibroblasts in vitro, trisomy 21 does not cause major regulatory changes in the rates of production and degradation of a large number of polypeptides.