Literature DB >> 941900

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

F C Ricciuti, T D Gelehrter, L E Rosenberg.   

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.

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Year:  1976        PMID： 941900      PMCID： PMC1685051     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  23 in total

1.  DEMONSTRATION OF TWO POPULATIONS OF CELLS IN THE HUMAN FEMALE HETEROZYGOUS FOR GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANTS.

Authors:  R G DAVIDSON; H M NITOWSKY; B CHILDS
Journal:  Proc Natl Acad Sci U S A       Date:  1963-09       Impact factor: 11.205

2.  Hyperammonaemia. A new instance of an inborn enzymatic defect of the biosynthesis of urea.

Authors:  A RUSSELL; B LEVIN; V G OBERHOLZER; L SINCLAIR
Journal:  Lancet       Date:  1962-10-06       Impact factor: 79.321

Review 3.  X-chromosome inactivation and developmental patterns in mammals.

Authors:  M F Lyon
Journal:  Biol Rev Camb Philos Soc       Date:  1972-01

4.  X-linked transmission of structural gene mutations responsible for ornithine-transcarbamylase deficiencies.

Authors:  L Cathelineau; J Navarro; C Polonovski; J M Saudubray
Journal:  Lancet       Date:  1973-02-03       Impact factor: 79.321

5.  X-linked transmission of ornithine-transcarbamylase deficiency.

Authors:  C R Scott; C C Teng; S I Goodman; A Greensher; J W Mace
Journal:  Lancet       Date:  1972-11-25       Impact factor: 79.321

6.  Cytochemical demonstration of ornithine carbamoyltransferase activity in liver mitochondria of rat and mouse.

Authors:  A Mizutani
Journal:  J Histochem Cytochem       Date:  1968-03       Impact factor: 2.479

7.  Time of X chromosome inactivation in retinal melanocytes of the mouse.

Authors:  M S Deol; W K Whitten
Journal:  Nat New Biol       Date:  1972-08-02

8.  X chromosome inactivation in X-linked hypohidrotic ectodermal dysplasia.

Authors:  E Passarge; E Fries
Journal:  Nat New Biol       Date:  1973-09-12

9.  Use of genetic linkage for the detection of female carriers of hemophilia.

Authors:  P R McCurdy
Journal:  N Engl J Med       Date:  1971-07-22       Impact factor: 91.245

10.  Gene action in the X-chromosome of the mouse (Mus musculus L.).

Authors:  M F LYON
Journal:  Nature       Date:  1961-04-22       Impact factor: 49.962
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  34 in total

Review 1.  Ornithine carbamoyl transferase deficiency: findings, models and problems.

Authors:  C Bachmann
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Heterogeneous X inactivation in trophoblastic cells of human full-term female placentas.

Authors:  L H Looijenga; A J Gillis; A J Verkerk; W L van Putten; J W Oosterhuis
Journal:  Am J Hum Genet       Date:  1999-05       Impact factor: 11.025

3.  Ornithine transcarbamylase deficiency: a case with a truncated enzyme precursor and a case with undetectable mRNA activity.

Authors:  H Kodama; A Ohtake; M Mori; I Okabe; M Tatibana; S Kamoshita
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

4.  Evidence for X linkage of the mouse tear protein system-3 (Mtp-3) with mosaic expression in heterozygous females.

Authors:  Y Matsushima; T Imai; S Ikemoto
Journal:  Biochem Genet       Date:  1984-06       Impact factor: 1.890

5.  Autosomal recessive inheritance of human mitochondrial carbamyl phosphate synthetase deficiency.

Authors:  J W McReynolds; B Crowley; M J Mahoney; L E Rosenberg
Journal:  Am J Hum Genet       Date:  1981-05       Impact factor: 11.025

6.  Site specific screening for point mutations in ornithine transcarbamylase deficiency.

Authors:  D Feldmann; J M Rozet; A Pelet; D Hentzen; P Briand; P Hubert; C Largilliere; D Rabier; J P Farriaux; A Munnich
Journal:  J Med Genet       Date:  1992-07       Impact factor: 6.318

7.  In vitro synthesis of a putative precursor of mitochondrial ornithine transcarbamoylase.

Authors:  J G Conboy; F Kalousek; L E Rosenberg
Journal:  Proc Natl Acad Sci U S A       Date:  1979-11       Impact factor: 11.205

8.  Female heterozygotes for the hypomorphic R40H mutation can have ornithine transcarbamylase deficiency and present in early adolescence: a case report and review of the literature.

Authors:  Jason R Pinner; Mary-Louise Freckmann; Edwin P Kirk; Makoto Yoshino
Journal:  J Med Case Rep       Date:  2010-11-12

9.  Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency.

Authors:  A Pelet; A Rotig; C Bonaïti-Pellié; D Rabier; V Cormier; E Toumas; D Hentzen; J M Saudubray; A Munnich
Journal:  Hum Genet       Date:  1990-01       Impact factor: 4.132

10.  X-linked dominant inherited diseases with lethality in hemizygous males.

Authors:  R Wettke-Schäfer; G Kantner
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132
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