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Literature DB >> 6232198

Assignment of human phosphoribosylglycinamide synthetase locus to region 21q221.

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

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.

Entities: Gene Species

Mesh：

Substances：

Year: 1984 PMID： 6232198 DOI： 10.1007/bf00286599

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

14 in total

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4. 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.

Authors: L B Epstein; C J Epstein
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10. Demonstration, by somatic cell genetics, of coordinate regulation of genes for two enzymes of purine synthesis assigned to human chromosome 21.

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14 in total

Review 1. Comparative map for mice and humans.

Authors: J H Nadeau; M T Davisson; D P Doolittle; P Grant; A L Hillyard; M R Kosowsky; T H Roderick
Journal: Mamm Genome Date: 1992 Impact factor: 2.957

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Authors: J H Nadeau; M T Davisson; D P Doolittle; P Grant; A L Hillyard; M Kosowsky; T H Roderick
Journal: Mamm Genome Date: 1991 Impact factor: 2.957

Assignment of human phosphoribosylglycinamide synthetase locus to region 21q221.

1. Serum uric acid in mongolism.

2. [Partial trisomy of chromosome 21 by maternal translocation t(15;21) (q26.2; q21)].

3. Protein measurement with the Folin phenol reagent.

4. 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.

5. Synteny between glycinamide ribonucleotide synthetase and superoxide dismutase (soluble).

6. Hyperuricemia in Down's syndrome.

7. [Monosomy for the centromeric regions of chromosome 21].

8. Duplication 15q22 to 15qter and its phenotypic expression.

9. [Trisomy 21 and superoxide dismutase-1 (IPO-A). Tentative localization of sub-band 21Q22.1].

10. Demonstration, by somatic cell genetics, of coordinate regulation of genes for two enzymes of purine synthesis assigned to human chromosome 21.

Review 1. Comparative map for mice and humans.

Review 2. Comparative map for mice and humans.

3. Regional localization of DNA sequences on chromosome 21 using somatic cell hybrids.

4. Multiple purine pathway enzyme activities are encoded at a single genetic locus in Drosophila.

5. Assignment of a third purine biosynthetic gene (glycinamide ribonucleotide transformylase) to human chromosome 21.

6. Expression of chromosome 21 specific sequences in normal and Down's syndrome tissues.

7. GART, SON, IFNAR, and CRF2-4 genes cluster on human chromosome 21 and mouse chromosome 16.

8. Regional mapping of liver type 6 phosphofructokinase isoenzyme on chromosome 21.

Review 9. Molecular genetics of human chromosome 21.

Review 10. Molecular genetic analysis of Down syndrome.