Human phosphoglycerate kinase and inactivation of the X chromosome.
The fibroblasts derived from the skin of a woman heterozygous for an X-linked deficiency of phosphoglycerate kinase represented a mosaic. Two of 22 clones with normal glucose-6-phosphate dehydrogenase activity and hypoxanthine(guanine) phosphoribosyltransferase activity had no phosphoglycerate kinase activity detected by electrophoresis. Because the loci for glucose-6-phosphate dehydrogeniase and hypoxanthine(guanine)phosphoribosyltransferase are already known to undergo inactivation and to be on the short arm of the X chromosome and the locus for phosphoglycerate kinase is on the long arm, these observations support the conclusion that the entire human X chromosome can be involved in X inactivation.
D002999:Clone Cells / Q000201:enzymology*; D004586:Electrophoresis; D005260:Female; D005347:Fibroblasts / Q000201:enzymology*; D005954:Glucosephosphate Dehydrogenase / Q000032:analysis; D006579:Heterozygote; D006801:Humans; D066298:In Vitro Techniques; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D010735:Phosphoglycerate Kinase / Q000032:analysis*; D012730:Sex Chromosomes; D012867:Skin / Q000166:cytology; D014166:Transferases / Q000032:analysis
D005954:Glucosephosphate Dehydrogenase; D014166:Transferases; D010735:Phosphoglycerate Kinase