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• W2056633946 abstract "Abstract Kinetic studies of the alkaline phosphatase activity of mass cultures of foreskin fibroblast cultures derived from six infants with Down's Syndrome (Mongolism) and nine controls failed to reveal any consistent differences in the repressed, derepressed and substrate-induced levels of enzyme activity between the two groups. One of the Mongol foreskin cultures and a skin culture derived from this patient were mosaic for 21 or 22 disomy, trisomy and quadrisomy. Kinetic analysis of the derepressed alkaline phosphatase of 34 clones from these cultures revealed four classes. The largest class (14 cases, “derepressible”) showed kinetics like those of the parental mass cultures. The phosphatase of a second group (10 cases, “super-repressed”) could not be derepressed. A third group (4 cases, “oscillatory”) showed decreasing, then increasing activities during the course of the 10–12 day experiments. One clone showed a rate of enzyme derepression (“hyper-de-repressible”) substantially higher than those of any other clone or mass culture. The data for five clones were ambiguous and could not be classified. All of the clones ceased to grow before the kinetic experiments could be repeated. Cytogenetic studies were done on 23 of the clones. The results provided evidence for the repeated occurrences of in vitro mitotic nondisjunction for chromosome 21 or 22. Two clones consisted predominantly of normal diploid cells; both were of the “super-repressed” type. However, one predominantly normal tetraploid clone was of the “derepressible” type. A “Mongol” tetraploid clone (94 chromosomes, including six nos. 21's or 22's) was also of the “derepressible” type, but had comparatively low enzyme activity. The other clones, predominantly G group (21 or 22) trisomie, fell into all categories of enzyme type. It is concluded that factors other than the ratio of small acrocentrics to total number of chromosomes and other than the total number of small acrocentric chromosomes are primarily responsible for the observed heterogeneity. These experiments, together with others which are discussed, suggest that established human fibroblast strains are mixtures of different somatic cell types, representing variations in genomic expression or “fixed differentiation” in vitro." @default.
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• W2056633946 date "1966-11-01" @default.
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• W2056633946 title "Clonal variation of derepressed phosphatase in chromosomally mosaic cell cultures from a child with Down's Syndrome" @default.
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• W2056633946 doi "https://doi.org/10.1016/0014-4827(66)90440-x" @default.
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