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Literature DB >> 1060135

Gene dosage: evidence for assignment of erythrocyte acid phosphatase locus to chromosome 2.

R E Magenis, R D Koler, E Lovrien, R H Bigley, M C DuVal, K M Overton.

Abstract

A child, trisomic for the distal short arm of chromosome 2 due to a familial 2/18 translocation, has elevated levels of activity of erythrocyte acid phosphatase [orthophosphoric-monoester phosphohydrolase (acid optimum), 3.1.3.2] Ferguson-Smith et al. [(1973) Nature New Biol. 243, 271-274] previously had found decreased levels of activity and loss of expression of an erythrocyte acid phosphatase allele in a subject who lacked one of the two homologous regions containing the distal three bands of chromosome 2. They suggested that the locus for erythrocyte acid phosphatase is located on that segment. Our findings provide further evidence for this assignment and also suggest an in vivo gene dosage effect of this autosomal locus, which depends on both the type and number of alleles present.

Entities: Species

Mesh：

Substances：
Acid Phosphatase

Year: 1975 PMID： 1060135 PMCID： PMC388755 DOI： 10.1073/pnas.72.11.4526

Source DB: PubMed Journal: Proc Natl Acad Sci U S A ISSN： 0027-8424 Impact factor: 11.205

20 in total

1. GENETICAL STUDIES ON HUMAN RED CELL ACID PHOSPHATASE.

Authors: D A HOPKINSON; N SPENCER; H HARRIS
Journal: Am J Hum Genet Date: 1964-03 Impact factor: 11.025

2. QUANTITATIVE DIFFERENCES AND GENE DOSAGE IN THE HUMAN RED CELL ACID PHOSPHATASE POLYMORPHISM.

Authors: N SPENCER; D A HOPKINSON; H HARRIS
Journal: Nature Date: 1964-01-18 Impact factor: 49.962

3. Chromosome preparations of leukocytes cultured from human peripheral blood.

Authors: P S MOORHEAD; P C NOWELL; W J MELLMAN; D M BATTIPS; D A HUNGERFORD
Journal: Exp Cell Res Date: 1960-09 Impact factor: 3.905

4. [Overactivity of the indophenol oxidase (form dimeric) in the trisomy 21, secondary to triplicated gene (author's transl)].

Authors: S Sichitiu; P M Sinet; J Lejeune; J Frézal
Journal: Humangenetik Date: 1974-06-26

5. The severe form of alpha thalassaemia is caused by a haemoglobin gene deletion.

Authors: S Ottolenghi; W G Lanyon; J Paul; R Williamson; D J Weatherall; J B Clegg; J Pritchard; S Pootrakul; W H Boon
Journal: Nature Date: 1974-10-04 Impact factor: 49.962

6. Red cell enzymes in trisomy 21.

Authors: S N Pantelakis; A G Karaklis; D Alexiou; E Vardas; T Valaes
Journal: Am J Hum Genet Date: 1970-03 Impact factor: 11.025

7. Assignment by deletion of human red cell acid phosphatase gene locus to the short arm of chromosome 2.

Authors: M A Ferguson-Smith; B F Newman; P M Ellis; D M Thomson; I D Riley
Journal: Nat New Biol Date: 1973-06-27

8. Gene dosage and the expression of electrophoretic patterns in heteroploid mouse cell lines.

Authors: R A Farber
Journal: Genetics Date: 1973-07 Impact factor: 4.562

9. The 24 fluorescence patterns of the human metaphase chromosomes - distinguishing characters and variability.

Authors: T Caspersson; G Lomakka; L Zech
Journal: Hereditas Date: 1972 Impact factor: 3.271

10. ACID PHOSPHATASES OF HUMAN RED CELLS: PREDICTED PHENOTYPE CONFORMS TO A GENETIC HYPOTHESIS.

Authors: L LAI; S NEVO; A G STEINBERG
Journal: Science Date: 1964-09-11 Impact factor: 47.728

10 in total

1. Evidence for the lack of feedback regulation of gene activity and for the absence of subunit exchange between lactate dehydrogenase tetramers in vivo.

Authors: B Nadal-Ginard
Journal: Proc Natl Acad Sci U S A Date: 1976-10 Impact factor: 11.205

Gene dosage: evidence for assignment of erythrocyte acid phosphatase locus to chromosome 2.

1. GENETICAL STUDIES ON HUMAN RED CELL ACID PHOSPHATASE.

2. QUANTITATIVE DIFFERENCES AND GENE DOSAGE IN THE HUMAN RED CELL ACID PHOSPHATASE POLYMORPHISM.

3. Chromosome preparations of leukocytes cultured from human peripheral blood.

4. [Overactivity of the indophenol oxidase (form dimeric) in the trisomy 21, secondary to triplicated gene (author's transl)].

5. The severe form of alpha thalassaemia is caused by a haemoglobin gene deletion.

6. Red cell enzymes in trisomy 21.

7. Assignment by deletion of human red cell acid phosphatase gene locus to the short arm of chromosome 2.

8. Gene dosage and the expression of electrophoretic patterns in heteroploid mouse cell lines.

9. The 24 fluorescence patterns of the human metaphase chromosomes - distinguishing characters and variability.

10. ACID PHOSPHATASES OF HUMAN RED CELLS: PREDICTED PHENOTYPE CONFORMS TO A GENETIC HYPOTHESIS.

1. Evidence for the lack of feedback regulation of gene activity and for the absence of subunit exchange between lactate dehydrogenase tetramers in vivo.

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

3. Ring chromosome 2: clinical, chromosomal, and biochemical aspects.

4. Partial trisomy for the short arm of chromosome 2 due to familial balance translocation.

5. PK3: a new chromosome enzyme marker for gene dosage studies in chromosome 15 imbalance.

6. Gene dosage effect for fumarate hydratase (FH; E.C. 4.2.1.2) in partial trisomy 1.

7. Duplication of 2p25: confirmation of the assignment of soluble acid phosphatase (ACP1) locus to 2p25.

8. Dosage effects for superoxide dismutase-1 in nucleated cells aneuploid for chromosome 21.

9. Influence of homoeologous chromosomes on gene-dosage effects in allohexaploid wheat (Triticum aestivum L.).

10. Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34.