Abstract
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.
Full text
PDFImages in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Campbell A. G., Rosenberg L. E., Snodgrass P. J., Nuzum C. T. Ornithine transcarbamylase deficiency: a cause of lethal neonatal hyperammonemia in males. N Engl J Med. 1973 Jan 4;288(1):1–6. doi: 10.1056/NEJM197301042880101. [DOI] [PubMed] [Google Scholar]
- Cathelineau L., Navarro J., Polonovski C., Saudubray J. M. X-linked transmission of structural gene mutations responsible for ornithine-transcarbamylase deficiencies. Lancet. 1973 Feb 3;1(7797):261–262. doi: 10.1016/s0140-6736(73)90097-4. [DOI] [PubMed] [Google Scholar]
- Cathelineau L., Saudubray J. M., Polonovski C. Heterogenous mutations of the structural gene of human ornithine carbamyltransferase as observed in five personal cases. Enzyme. 1974;18(1):103–113. doi: 10.1159/000459417. [DOI] [PubMed] [Google Scholar]
- DAVIDSON R. G., NITOWSKY H. M., CHILDS B. DEMONSTRATION OF TWO POPULATIONS OF CELLS IN THE HUMAN FEMALE HETEROZYGOUS FOR GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANTS. Proc Natl Acad Sci U S A. 1963 Sep;50:481–485. doi: 10.1073/pnas.50.3.481. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Deol M. S., Whitten W. K. Time of X chromosome inactivation in retinal melanocytes of the mouse. Nat New Biol. 1972 Aug 2;238(83):159–160. doi: 10.1038/newbio238159a0. [DOI] [PubMed] [Google Scholar]
- Deys B. F., Grzeschick K. H., Grzeschick A., Jaffé E. R., Siniscalco M. Human phosphoglycerate kinase and inactivation of the X chromosome. Science. 1972 Mar 3;175(4025):1002–1003. doi: 10.1126/science.175.4025.1002. [DOI] [PubMed] [Google Scholar]
- Drews U., Alonso-Lozano V. X-inactivation pattern in the epididymis of sex-reversed mice heterozygous for testicular feminization. J Embryol Exp Morphol. 1974 Aug;32(1):217–225. [PubMed] [Google Scholar]
- Goldstein A. S., Hoogenraad N. J., Johnson J. D., Fukanaga K., Swierczewski E., Cann H. M., Sunshine P. Metabolic and genetic studies of a family with ornithine transcarbamylase deficiency. Pediatr Res. 1974 Jan;8(1):5–12. doi: 10.1203/00006450-197401000-00002. [DOI] [PubMed] [Google Scholar]
- Goldstein J. L., Marks J. F., Gartler S. M. Expression of two X-linked genes in human hair follicles of double heterozygotes. Proc Natl Acad Sci U S A. 1971 Jul;68(7):1425–1427. doi: 10.1073/pnas.68.7.1425. [DOI] [PMC free article] [PubMed] [Google Scholar]
- LYON M. F. Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature. 1961 Apr 22;190:372–373. doi: 10.1038/190372a0. [DOI] [PubMed] [Google Scholar]
- Levin B., Abraham J. M., Oberholzer V. G., Burgess E. A. Hyperammonaemia: a deficiency of liver ornithine transcarbamylase. Occurrence in mother and child. Arch Dis Child. 1969 Apr;44(234):152–161. doi: 10.1136/adc.44.234.152. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Levin B., Dobbs R. H., Burgess E. A., Palmer T. Hyperammonaemia. A variant type of deficiency of liver ornithine transcarbamylase. Arch Dis Child. 1969 Apr;44(234):162–169. doi: 10.1136/adc.44.234.162. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Lyon M. F. X-chromosome inactivation and developmental patterns in mammals. Biol Rev Camb Philos Soc. 1972 Jan;47(1):1–35. doi: 10.1111/j.1469-185x.1972.tb00969.x. [DOI] [PubMed] [Google Scholar]
- McCurdy P. R. Use of genetic linkage for the detection of female carriers of hemophilia. N Engl J Med. 1971 Jul 22;285(4):218–219. doi: 10.1056/NEJM197107222850409. [DOI] [PubMed] [Google Scholar]
- Migeon B. R., Der Kaloustian V. M., Nyhan W. L., Yough W. J., Childs B. X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations. Science. 1968 Apr 26;160(3826):425–427. doi: 10.1126/science.160.3826.425. [DOI] [PubMed] [Google Scholar]
- Mizutani A. Cytochemical demonstration of ornithine carbamoyltransferase activity in liver mitochondria of rat and mouse. J Histochem Cytochem. 1968 Mar;16(3):172–180. doi: 10.1177/16.3.172. [DOI] [PubMed] [Google Scholar]
- Nuzum C. T., Snodgrass P. J. Urea cycle enzyme adaptation to dietary protein in primates. Science. 1971 Jun 4;172(3987):1042–1043. doi: 10.1126/science.172.3987.1042. [DOI] [PubMed] [Google Scholar]
- Passarge E., Fries E. X chromosome inactivation in X-linked hypohidrotic ectodermal dysplasia. Nat New Biol. 1973 Sep 12;245(141):58–59. doi: 10.1038/newbio245058a0. [DOI] [PubMed] [Google Scholar]
- RUSSELL A., LEVIN B., OBERHOLZER V. G., SINCLAIR L. Hyperammonaemia. A new instance of an inborn enzymatic defect of the biosynthesis of urea. Lancet. 1962 Oct 6;2(7258):699–700. doi: 10.1016/s0140-6736(62)90508-1. [DOI] [PubMed] [Google Scholar]
- Romeo G., Migeon B. R. Genetic inactivation of the alpha-galactosidase locus in carriers of Fabry's disease. Science. 1970 Oct 9;170(3954):180–181. doi: 10.1126/science.170.3954.180. [DOI] [PubMed] [Google Scholar]
- Scott C. R., Teng C. C., Goodman S. I., Greensher A., Mace J. W. X-linked transmission of ornithine-transcarbamylase deficiency. Lancet. 1972 Nov 25;2(7787):1148–1148. doi: 10.1016/s0140-6736(72)92756-0. [DOI] [PubMed] [Google Scholar]
- Short E. M., Conn H. O., Snodgrass P. J., Campbell A. G., Rosenberg L. E. Evidence for x-linked dominant inheritance of ornithine transcarbamylase deficiency. N Engl J Med. 1973 Jan 4;288(1):7–12. doi: 10.1056/NEJM197301042880102. [DOI] [PubMed] [Google Scholar]
- Witkop C. J., Jr Partial expression of sex-linked recessive amelogenesis imperfecta in females compatible with the Lyon hypothesis. Oral Surg Oral Med Oral Pathol. 1967 Feb;23(2):174–182. doi: 10.1016/0030-4220(67)90092-8. [DOI] [PubMed] [Google Scholar]