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Titolo:
THE HUMAN CHITOTRIOSIDASE GENE - NATURE OF INHERITED ENZYME DEFICIENCY
Autore:
BOOT RG; RENKEMA GH; VERHOEK M; STRIJLAND A; BLIEK J; DEMEULEMEESTER TMAMO; MANNENS MMAM; AERTS JMFG;
Indirizzi:
UNIV AMSTERDAM,ACAD MED CTR,DEPT BIOCHEM,POB 22700 NL-1100 DE AMSTERDAM NETHERLANDS UNIV AMSTERDAM,ACAD MED CTR,DEPT BIOCHEM NL-1100 DE AMSTERDAM NETHERLANDS UNIV AMSTERDAM,ACAD MED CTR,INST ANTHROPOGENET,DEPT CLIN GENET NL-1105 AZ AMSTERDAM NETHERLANDS
Titolo Testata:
The Journal of biological chemistry
fascicolo: 40, volume: 273, anno: 1998,
pagine: 25680 - 25685
SICI:
0021-9258(1998)273:40<25680:THCG-N>2.0.ZU;2-Q
Fonte:
ISI
Lingua:
ENG
Soggetto:
CHITINASE PROTEIN FAMILY; MOLECULAR CHARACTERIZATION; ANTIFUNGAL PROPERTIES; PLANT CHITINASES; EXON MUTATION; EXPRESSION; CLONING; PURIFICATION; RESOLUTION; INHIBITORS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
34
Recensione:
Indirizzi per estratti:
Citazione:
R.G. Boot et al., "THE HUMAN CHITOTRIOSIDASE GENE - NATURE OF INHERITED ENZYME DEFICIENCY", The Journal of biological chemistry, 273(40), 1998, pp. 25680-25685

Abstract

The human chitinase, named chitotriosidase, is a member of family 18 of glycosylhydrolases. Following the cloning of the chitotriosidase cDNA (Boot, R. G., Renkema, G. H., Strijland, A., van Zonneveld, A. J., and Aerts, J. M. F. G. (1995) J. Biol. Chem. 270, 26252-26256), the gene and mRNA have been investigated. The chitotriosidase gene is assigned to chromosome 1q31-q32. The gene consists of 12 exons and spans about 20 kilobases, The nature of the common deficiency in chitotriosidase activity is reported. A 24-base pair duplication in exon 10 results in activation of a cryptic 3' splice site, generating a mRNA with an in-frame deletion of 87 nucleotides. All chitotriosidase-deficient individuals tested were homozygous for the duplication. The observed carrier frequency of about 35% indicates that the duplication is the predominant cause of chitotriosidase deficiency, The presence of the duplication in individuals from various ethnic groups suggests that this mutation is relatively old.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 21/09/20 alle ore 18:33:50