Literature DB >> 6985467

Assignment of human uroporphyrinogen I synthase locus to region 11qter by gene dosage effect.

H de Verneuil, N Phung, Y Nordmann, D Allard, F Leprince, H Jérome, A Aurias, M O Rethoré.   

Abstract

Recently Meisler et al. (1980) reported the results of mouse/human somatic cell hybrid studies which indicated that the locus for human uroporphyrinogen I synthase (UPS) (EC 4.3.1.8) maps to chromosome 11. To evaluate further this assignment we have children with a trisomy of the region 11qter. We confirm the results of Meisler et al. (1980) and demonstrate that uroporphyrinogen I synthase activity is increased by a factor of 1.5 in trisomy 11qter. In erythrocytes of one child with a trisomy 11p, the expression of this enzyme was normal.

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Year:  1982        PMID： 6985467     DOI： 10.1007/BF00303004

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


  7 in total

1.  [2 cases of trisomy 11q(q231--qter) by translocation t(11;22) (q231;q111) in 2 different families].

Authors:  A Aurias; C Turc; Y Michiels; P M Sinet; D Graveleau; J Lejeune
Journal:  Ann Genet       Date:  1975-09

2.  Protein measurement with the Folin phenol reagent.

Authors:  O H LOWRY; N J ROSEBROUGH; A L FARR; R J RANDALL
Journal:  J Biol Chem       Date:  1951-11       Impact factor: 5.157

3.  The spectrophotometric determination of uroporphyrinogen I synthetase activity.

Authors:  B Grandchamp; N Phung; M Grelier; Y Nordmann
Journal:  Clin Chim Acta       Date:  1976-07-01       Impact factor: 3.786

4.  [Descriptive diagrams of human chromosomes (R band analysis and nomenclature according to the conference in Paris in 1971)].

Authors:  M Prieur; B Dutrillaux; J Lejeune
Journal:  Ann Genet       Date:  1973-03

5.  [Increase of LDH A and partial trisomy 11p (author's transl)].

Authors:  M O Rethoré; C Junien; A Aurias; J Couturier; B Dutrillaux; J C Kaplan; J Lejeune
Journal:  Ann Genet       Date:  1980

6.  The 11q;22q translocation: a European collaborative analysis of 43 cases.

Authors:  M Fraccaro; J Lindsten; C E Ford; L Iselius
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

7.  The UPS locus encoding uroporphyrinogen I synthase is located on human chromosome 11.

Authors:  M Meisler; L Wanner; R E Eddy; T B Shows
Journal:  Biochem Biophys Res Commun       Date:  1980-07-16       Impact factor: 3.575
  7 in total
  4 in total

1.  Regional assignment of the human uroporphyrinogen III synthase (UROS) gene to chromosome 10q25.2----q26.3.

Authors:  K H Astrin; C A Warner; H W Yoo; P J Goodfellow; S F Tsai; R J Desnick
Journal:  Hum Genet       Date:  1991-05       Impact factor: 4.132

2.  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

Review 3.  Porphobilinogen deaminase gene structure and molecular defects.

Authors:  J C Deybach; H Puy
Journal:  J Bioenerg Biomembr       Date:  1995-04       Impact factor: 2.945

4.  Molecular cloning of a cDNA sequence complementary to porphobilinogen deaminase mRNA from rat.

Authors:  B Grandchamp; P H Romeo; A Dubart; N Raich; J Rosa; Y Nordmann; M Goossens
Journal:  Proc Natl Acad Sci U S A       Date:  1984-08       Impact factor: 11.205
  4 in total

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