Somatic cell genetic approaches to Down's syndrome.
Somatic cell genetic analysis of mutants of Chinese hamster ovary cells with deficient purine synthesis and of hybrids between these mutants and human cells is described. Data are presented substantiating that two genes for enzymes of purine synthesis, AdeC and AdeG, can be coordinately regulated in mammalian cells. Analysis of a human-hamster hybrid cell, Ade C/21, which contains a normal complement of hamster chromosomes and human chromosome 21 as its only human genetic component recognizable by electrophoretic and immunogenetic techniques demonstrates that genes associated with the presence of human chromosome 21 and required for the synthesis of specific polypeptides and specific human lethal cell surface antigens can be detected in these hybrids.
D000818:Animals; D000954:Antigens, Surface / Q000032:analysis; D019731:Carbon-Nitrogen Ligases; D002460:Cell Line; D002874:Chromosome Mapping; D002904:Chromosomes, Human, 21-22 and Y; D006224:Cricetinae; D003412:Cricetulus; D004314:Down Syndrome / Q000235:genetics*; D004591:Electrophoresis, Polyacrylamide Gel / Q000379:methods; D005786:Gene Expression Regulation; D006801:Humans; D006822:Hybrid Cells / Q000201:enzymology / Q000276:immunology / Q000648:ultrastructure*; D008025:Ligases / Q000032:analysis / Q000235:genetics; D009154:Mutation; D011685:Purine Nucleotides / Q000096:biosynthesis
D000954:Antigens, Surface; D011685:Purine Nucleotides; D008025:Ligases; D019731:Carbon-Nitrogen Ligases; C022380:phosphoribosylaminoimidazole synthase; C022387:phosphoribosylamine-glycine ligase