The human chitotriosidase gene. Nature of inherited enzyme deficiency
| Autor: | R G, Boot, G H, Renkema, M, Verhoek, A, Strijland, J, Bliek, T M, de Meulemeester, M M, Mannens, J M, Aerts |
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| Rok vydání: | 1998 |
| Předmět: |
Base Sequence
Genotype Macrophages DNA Mutational Analysis Homozygote Molecular Sequence Data Chromosome Mapping Sequence Analysis DNA Hexosaminidases Chromosomes Human Pair 1 Humans Amino Acid Sequence RNA Messenger Cloning Molecular In Situ Hybridization Netherlands Repetitive Sequences Nucleic Acid Sequence Deletion |
| Zdroj: | The Journal of biological chemistry. 273(40) |
| ISSN: | 0021-9258 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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