Literature DB >> 7959694

Localization of the human coproporphyrinogen oxidase gene to chromosome band 3q12.

V Cacheux1, P Martasek, F Fougerousse, M H Delfau, L Druart, G Tachdjian, B Grandchamp.   

Abstract

The human gene encoding coproporphyrinogen oxidase is the defective gene in hereditary coproporphyria. This gene was mapped to chromosome band 3q12 using fluorescent in situ hybridization. The chromosomal localization was confirmed by cosegregation of the human gene with chromosome 3 in a panel of human/rodent somatic hybrids.

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Year:  1994        PMID： 7959694     DOI： 10.1007/BF00211026

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  8 in total

1.  A simple method for simultaneous R- or G-banding and fluorescence in situ hybridization of small single-copy genes.

Authors:  N Lemieux; B Dutrillaux; E Viegas-Péquignot
Journal:  Cytogenet Cell Genet       Date:  1992

2.  Detection of single-copy genes by nonisotopic in situ hybridization on human chromosomes.

Authors:  D Cherif; O Bernard; R Berger
Journal:  Hum Genet       Date:  1989-03       Impact factor: 4.132

3.  Hereditary coproporphyria.

Authors:  A Goldberg; C Rimington; A C Lochhead
Journal:  Lancet       Date:  1967-03-25       Impact factor: 79.321

4.  Assignment of the human coproporphyrinogen oxidase to chromosome 9.

Authors:  B Grandchamp; D Weil; Y Nordmann; N Van Cong; H de Verneuil; C Foubert; M S Gross
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

5.  Molecular cloning, sequencing, and functional expression of a cDNA encoding human coproporphyrinogen oxidase.

Authors:  P Martasek; J M Camadro; M H Delfau-Larue; J B Dumas; J J Montagne; H de Verneuil; P Labbe; B Grandchamp
Journal:  Proc Natl Acad Sci U S A       Date:  1994-04-12       Impact factor: 11.205

6.  NIGMS human/rodent somatic cell hybrid mapping panels 1 and 2.

Authors:  H L Drwinga; L H Toji; C H Kim; A E Greene; R A Mulivor
Journal:  Genomics       Date:  1993-05       Impact factor: 5.736

7.  Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms.

Authors:  P Martasek; Y Nordmann; B Grandchamp
Journal:  Hum Mol Genet       Date:  1994-03       Impact factor: 6.150

8.  Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization.

Authors:  D Pinkel; T Straume; J W Gray
Journal:  Proc Natl Acad Sci U S A       Date:  1986-05       Impact factor: 11.205
  8 in total
  4 in total

Review 1.  Heme biosynthesis and the porphyrias.

Authors:  John D Phillips
Journal:  Mol Genet Metab       Date:  2019-04-22       Impact factor: 4.797

2.  Role of aspartate 400, arginine 262, and arginine 401 in the catalytic mechanism of human coproporphyrinogen oxidase.

Authors:  Jason R Stephenson; Julie A Stacey; Justin B Morgenthaler; Jon A Friesen; Timothy D Lash; Marjorie A Jones
Journal:  Protein Sci       Date:  2007-01-22       Impact factor: 6.725

Review 3.  [Hepatic porphyrias and alcohol].

Authors:  M O Doss; A Kühnel; U Gross; I Sieg
Journal:  Med Klin (Munich)       Date:  1999-06-15

4.  Cerebral Hypoperfusion in Hereditary Coproporphyria (HCP): A Single Photon Emission Computed Tomography (SPECT) Study.

Authors:  Guido Valle; Claudio Carmine Guida; Michelangelo Nasuto; Manuela Totaro; Filippo Aucella; Vincenzo Frusciante; Lazzaro Di Mauro; Adele Potenza; Maria Savino; Mario Stanislao; Teresa Popolizio; Giuseppe Guglielmi; Vito Angelo Giagulli; Edoardo Guastamacchia; Vincenzo Triggiani
Journal:  Endocr Metab Immune Disord Drug Targets       Date:  2016       Impact factor: 2.895
  4 in total

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