EFFECT OF TRISOMY-21 ON THE PATTERNS OF POLYPEPTIDE-SYNTHESIS IN HUMAN-FIBROBLASTS

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  • 1 January 1979
    • journal article
    • research article
    • Vol. 31  (4) , 478-488
Abstract
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, 2-dimensional gel electrophoresis was used with autoradiography to look for such secondary effects among the polypeptides synthesized by human fibroblasts grown in vitro. The polypeptide patterns of fibroblast strains from 4 trisomy 21 subjects and 1 trisomy 21/normal mosaic were compared to those from 5 matched normal subjects. Of approximately 850 polypeptides visualized, only 4 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. In in vitro fibroblasts, trisomy 21 apparently does not cause major regulatory changes in the rates of production and degradation of a large number of polypeptides.