Literature DB >> 700704

The gene for human peptidase A is on band 18q23 and shows triplex and uniplex dosage effect.

C Danesino, A D'Azzo, P Maraschio, M Fraccaro.   

Abstract

Gene dosage effect for the enzyme peptidase A was studied in the red cells of subjects trisomic (seven cases) or monosomic (five cases) for the segment of chromosome 18 carrying the gene. The individual levels of enzyme activity in both groups were differen from those of the controls, but with a wide overlap. The use of the ratio of the activity of each subject to the midparent activity eliminated the overlapping. The mean ratio was 0.94 for the controls, 2.36 for the trisomics, and 0.41 for the monosomics. The trisomic ratio is higher than expected on the assumption of a linear effect. Correlation with the cytogenetic data in four cases of ring 18 and one of 18q- firmly places the gene for peptidase A on band 18q23.

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Year:  1978        PMID: 700704     DOI: 10.1007/bf00278837

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


  8 in total

1.  Localisation of human peptidase-A structrual locus from studies on a cultured lymphoblastoid line.

Authors:  E Arthur; C M Steel; H J Evans; S Povey; D Watson; H Harris
Journal:  Nature       Date:  1975-09-25       Impact factor: 49.962

2.  High resolution of human chromosomes.

Authors:  J J Yunis
Journal:  Science       Date:  1976-03-26       Impact factor: 47.728

3.  Chromosome variation and gene action.

Authors:  W Krone; U Wolf
Journal:  Hereditas       Date:  1977       Impact factor: 3.271

4.  Risk for recombinants in pericentric inversions of the (p11 leads to q21) region of chromosome 18.

Authors:  V Vigi; P Maraschio; G Bosi; P Guerini; M Fraccaro
Journal:  Hum Genet       Date:  1977-06-10       Impact factor: 4.132

5.  Studies on the quantitative variation of human red cell peptidase A activity.

Authors:  K P Sinha; W H Lewis; G Corney; H Harris
Journal:  Ann Hum Genet       Date:  1970-10       Impact factor: 1.670

6.  Human red cell peptidases.

Authors:  W H Lewis; H Harris
Journal:  Nature       Date:  1967-07-22       Impact factor: 49.962

7.  Tentative assignment of the peptidase-A (Pep-A) gene locus to the (q21-qter) region of chromosome 18 in man.

Authors:  P J McAlpine; T Mohandas; L Komarnicki; V Niewczas-Late; A Vust; J L Hamerton
Journal:  Cytogenet Cell Genet       Date:  1975

8.  Genetic studies on human lymphoblastoid cell lines: isozyme and cytogenetic heterogeneity in a cell line, with evidence for localization of the Pep A locus in man.

Authors:  E Arthur; C M Steel; H J Evans; S Povey; B Wstson; H Harris
Journal:  Ann Hum Genet       Date:  1975-07       Impact factor: 1.670

  8 in total
  5 in total

1.  Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation.

Authors:  P Maraschio; C Danesino; A Garau; V Saputo; V Vigi; S Volpato
Journal:  Hum Genet       Date:  1979-04-27       Impact factor: 4.132

2.  Regional assignment of red cell acid phosphatase locus to band 2p25.

Authors:  C Junien; J C Kaplan; A Bernheim; R Berger
Journal:  Hum Genet       Date:  1979-04-17       Impact factor: 4.132

3.  Agenesis of the corpus callosum with mosaicism 46,XY/47,XY, extra ring chromosome.

Authors:  G Zamboni; F Bernardi; C Danesino; U M del Majno; G Beghini; B Dalla Bernardina
Journal:  J Med Genet       Date:  1980-02       Impact factor: 6.318

4.  De novo complex autosomal translocation involving chromosomes 8, 13 and 15 in a girl with a sporadic retinoblastoma.

Authors:  E Calzolari; P Palazzi; V Aiello; E Mazzeo; P Perri; A Minelli; L del Senno; P Patracchini; F Bernardi
Journal:  Hum Genet       Date:  1987-09       Impact factor: 4.132

5.  Suggested assignment of peptidase S (PEPS) to 4p11-4q12 by exclusion using gene dosage, accounting for variability in fibroblasts.

Authors:  S M Schmutz; N E Simpson
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

  5 in total

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