Skip to main content
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1976 Jul;28(4):332–338.

X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase.

F C Ricciuti, T D Gelehrter, L E Rosenberg
PMCID: PMC1685051  PMID: 941900

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

PDF
332

Images in this article

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. 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]
  2. 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]
  3. 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]
  4. 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]
  5. 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]
  6. 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]
  7. 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]
  8. 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]
  9. 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]
  10. 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]
  11. 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]
  12. 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]
  13. 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]
  14. 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]
  15. 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]
  16. 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]
  17. 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]
  18. 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]
  19. 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]
  20. 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]
  21. 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]
  22. 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]
  23. 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]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES