X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase.
Histochemical assay for ornithine transcarbamylase (OTC) activity in fixed frozen hepatic sections from a woman heterozygous for OTC deficiency revealed two populations of hepatocytes: those with normal activity and those with no activity. This observation, in conjunction with data from previous family studies, confirms the hypothesis that the gene for OTC is X-linked. It also provides the first cytologic demonstration of cellular mosaicism for a liver-specific cell product.
D001706:Biopsy; D005260:Female; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D008099:Liver / Q000166:cytology / Q000378:metabolism*; D008297:Male; D008875:Middle Aged; D009954:Ornithine Carbamoyltransferase / Q000096:biosynthesis*; D010375:Pedigree; D012730:Sex Chromosomes
D009954:Ornithine Carbamoyltransferase