Home LiteratureArticle Details
PMID: 941900 Published · ppublish English Case Reports Journal Article Research Support, U.S. Gov't, P.H.S.

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

American journal of human genetics ·Vol. 28 ·No. 4 ·1976-07-00 ·Pages 332-8

Ricciuti FC, Gelehrter TD, Rosenberg LE

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.

MeSH Terms
Biopsy Female Genetic Linkage Heterozygote Humans Liver/cytology,metabolism Male Middle Aged Ornithine Carbamoyltransferase/biosynthesis Pedigree Sex Chromosomes
Chemicals
Ornithine Carbamoyltransferase
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Ricciuti F C
Gelehrter T D
Rosenberg L E
References (23)
23 references, click to expand
  1. 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;50:481-5 PMID: 14067093
  2. Hyperammonaemia. A new instance of an inborn enzymatic defect of the biosynthesis of urea.
    Lancet. 1962 Oct 6;2(7258):699-700 PMID: 13975632
  3. Gene action in the X-chromosome of the mouse (Mus musculus L.).
    Nature. 1961 Apr 22;190:372-3 PMID: 13764598
  4. Cytochemical demonstration of ornithine carbamoyltransferase activity in liver mitochondria of rat and mouse.
    J Histochem Cytochem. 1968 Mar;16(3):172-80 PMID: 4172322
  5. Use of genetic linkage for the detection of female carriers of hemophilia.
    N Engl J Med. 1971 Jul 22;285(4):218-9 PMID: 5087725
  6. X chromosome inactivation in X-linked hypohidrotic ectodermal dysplasia.
    Nat New Biol. 1973 Sep 12;245(141):58-9 PMID: 4517047
  7. Time of X chromosome inactivation in retinal melanocytes of the mouse.
    Nat New Biol. 1972 Aug 2;238(83):159-60 PMID: 4506196
  8. X-linked transmission of ornithine-transcarbamylase deficiency.
    Lancet. 1972 Nov 25;2(7787):1148 PMID: 4117228
  9. X-linked transmission of structural gene mutations responsible for ornithine-transcarbamylase deficiencies.
    Lancet. 1973 Feb 3;1(7797):261-2 PMID: 4119401
  10. X-chromosome inactivation and developmental patterns in mammals.
    Biol Rev Camb Philos Soc. 1972 Jan;47(1):1-35 PMID: 4554151
  11. X-inactivation pattern in the epididymis of sex-reversed mice heterozygous for testicular feminization.
    J Embryol Exp Morphol. 1974 Aug;32(1):217-25 PMID: 4452830
  12. Heterogenous mutations of the structural gene of human ornithine carbamyltransferase as observed in five personal cases.
    Enzyme. 1974;18(1):103-13 PMID: 4852265
  13. Metabolic and genetic studies of a family with ornithine transcarbamylase deficiency.
    Pediatr Res. 1974 Jan;8(1):5-12 PMID: 4809308
  14. Evidence for x-linked dominant inheritance of ornithine transcarbamylase deficiency.
    N Engl J Med. 1973 Jan 4;288(1):7-12 PMID: 4681915
  15. Ornithine transcarbamylase deficiency: a cause of lethal neonatal hyperammonemia in males.
    N Engl J Med. 1973 Jan 4;288(1):1-6 PMID: 4681895
  16. Urea cycle enzyme adaptation to dietary protein in primates.
    Science. 1971 Jun 4;172(3987):1042-3 PMID: 4995676
  17. Human phosphoglycerate kinase and inactivation of the X chromosome.
    Science. 1972 Mar 3;175(4025):1002-3 PMID: 5009390
  18. X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations.
    Science. 1968 Apr 26;160(3826):425-7 PMID: 4868511
  19. Expression of two X-linked genes in human hair follicles of double heterozygotes.
    Proc Natl Acad Sci U S A. 1971 Jul;68(7):1425-7 PMID: 5283930
  20. 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):174-82 PMID: 5225441
  21. Genetic inactivation of the alpha-galactosidase locus in carriers of Fabry's disease.
    Science. 1970 Oct 9;170(3954):180-1 PMID: 5466114
  22. Hyperammonaemia. A variant type of deficiency of liver ornithine transcarbamylase.
    Arch Dis Child. 1969 Apr;44(234):162-9 PMID: 5779427
  23. Hyperammonaemia: a deficiency of liver ornithine transcarbamylase. Occurrence in mother and child.
    Arch Dis Child. 1969 Apr;44(234):152-61 PMID: 5779426
Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1976-07-00
Pages
332-8
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1685051
Subset
IM
External Links
PubMed source PMC Full Text View journal details
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: [email protected]

Copyright © 2026.Genelibs Jinan Honghui Biotechnology Co., Ltd. 鲁ICP备20007159号-2