Home LiteratureArticle Details

PMID: 6232198 Published · ppublish English Case Reports Comparative Study Journal Article

Assignment of human phosphoribosylglycinamide synthetase locus to region 21q221.

Human genetics ·Vol. 66 ·No. 2-3 ·1984-00-00 ·Pages 190-2

Chadefaux B, Allard D, Rethoré MO, Raoul O, Poissonnier M, Gilgenkrantz S, Cheruy C, Jérôme H

Abstract

The enzymatic activity of phosphoribosylglycinamide synthetase (GARS) has been studied in several cases of partial monosomies and full and partial trisomies 21. An excess of GARS activity was found in regular trisomy 21 with a trisomy 21/normal ratio equal to 1.55. A 0.99 ratio was found in 21q21----21pter monosomy; a 0.54 ratio was found in 21qter----21q22 monosomy; a 0.88 ratio, in 21q21----21pter trisomy, and a 1.46 ratio, in 21q22.1 trisomy. Consequently, the GARS gene locus, assigned to chromosome 21, could be localized in subband 21q22.1.

MeSH Terms

Adolescent Carbon-Nitrogen Ligases Chromosome Banding Chromosome Deletion Chromosome Mapping Chromosomes, Human, 21-22 and Y Down Syndrome/enzymology,genetics Female Fibroblasts/enzymology Humans Infant Ligases/genetics Male Multienzyme Complexes Phosphoribosylglycinamide Formyltransferase Translocation, Genetic

Chemicals

Multienzyme Complexes Phosphoribosylglycinamide Formyltransferase Ligases Carbon-Nitrogen Ligases GART protein, human phosphoribosylamine-glycine ligase

Authors & Affiliations

8 authors, click to expand affiliations / ORCID

Chadefaux B

Allard D

Rethoré M O

Raoul O

Poissonnier M

Gilgenkrantz S

Cheruy C

Jérôme H

References (14)

14 references, click to expand

Localization fo the gene AVG for the antiviral expression of immune and classical interferon to the distal portion of the long arm of chromosome 21.
J Infect Dis. 1976 Jun;133 Suppl:A56-62 PMID: 180211
[Partial trisomy of chromosome 21 by maternal translocation t(15;21) (q26.2; q21)].
Ann Genet. 1976 Sep;19(3):187-90 PMID: 136225
Hyperuricemia in Down's syndrome.
J Clin Endocrinol Metab. 1968 Apr;28(4):472-8 PMID: 4230664
Synteny between glycinamide ribonucleotide synthetase and superoxide dismutase (soluble).
Am J Hum Genet. 1977 Jul;29(4):389-96 PMID: 889603
Demonstration, by somatic cell genetics, of coordinate regulation of genes for two enzymes of purine synthesis assigned to human chromosome 21.
Proc Natl Acad Sci U S A. 1981 Jan;78(1):405-9 PMID: 6941256
Serum uric acid in mongolism.
Science. 1962 Sep 14;137(3533):868-9 PMID: 13895863
[Monosomy for the centromeric regions of chromosome 21].
Exp Cell Res. 1972 Feb;70(2):455-6 PMID: 5058917
[Trisomy 21 and superoxide dismutase-1 (IPO-A). Tentative localization of sub-band 21Q22.1].
Exp Cell Res. 1976 Jan;97:47-55 PMID: 1245197
Protein measurement with the Folin phenol reagent.
J Biol Chem. 1951 Nov;193(1):265-75 PMID: 14907713
Duplication 15q22 to 15qter and its phenotypic expression.
Hum Genet. 1981;59(4):429-33 PMID: 7333596
[Translocation 46,XX, t(15; 21) (q13; q22,1) in the mother of 2 children with partial trisomy 15 and monosomy 21].
Ann Genet. 1973 Dec;16(4):271-5 PMID: 4544092
[Increased activity of adenine phosphoribosyl transferase in a child trisomic for 16q22.2 to 16qter due to malsegregation of a t(16;21) (q22.2;q22;2)pat (author's transl)].
Ann Genet. 1982;25(1):36-42 PMID: 6979298
Gene dosage effect for glycinamide ribonucleotide synthetase in human fibroblasts trisomic for chromosome 21.
Biochem Biophys Res Commun. 1980 Apr 29;93(4):1286-9 PMID: 6446912
Phosphoribosylglycinamide synthetase from Aerobacter aerogenes.
Methods Enzymol. 1978;51:179-85 PMID: 692385

Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00286599

Published

1984-00-00

Pages

190-2

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00286599 View journal details

Analysis Services

Assignment of human phosphoribosylglycinamide synthetase locus to region 21q221.

Contact

WeChat Official Account