Human carbonyl reductase (CBR) localized to band 21q22. 1 by high-resolution fluorescence in situ hybridization displays gene dosage effects in trisomy 21 cells
- Universite de Montreal (Canada)
- Institut Curie Section de Biologie, Paris (France)
- Beckman Research Institute at the City of Hope, Duarte, CA (United States)
Human carbonyl reductase (CBR) belongs to a group of NADPH-dependent enzymes called aldo-keto reductases. The enzyme can function as an aldo-keto reductase or as a quinone reductase with potential for modulating quinone-mediated oxygen free radicals. The CBR gene was mapped by high-resolution fluorescence in situ hybridization to band 21q22.12, very close to the SOD1 locus at position 2lq22.11. CBR displayed gene dosage effects in trisomy 21 human lymphoblasts at the DNA and mRNA levels. Lymphoblasts with increasing chromosome 21 ploidy also showed increased aldo-keto reductase activity and increased quinone reductase activity. Both aldo-keto reductase activity and quinone reductase activity have been shown to be associated with carbonyl reductase. The location of CBR near SOD1 and the increased enzyme activity and potential for free radical modulation in trisomy 21 cells implicate CBR as a candidate for contributing to the pathology of certain diseases such as Down syndrome and Alzheimer disease. 28 refs., 1 fig., 1 tab.
- OSTI ID:
- 7063320
- Journal Information:
- Genomics; (United States), Vol. 15:1; ISSN 0888-7543
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
DOWNS SYNDROME
GENETICS
ENZYMES
GENETIC MAPPING
HUMAN CHROMOSOME 21
REDUCING AGENTS
DISEASES
DNA
ENZYME ACTIVITY
FLUORESCENCE
HYBRIDIZATION
MODULATION
NADP
OXYGEN
PATHOLOGY
PLOIDY
QUINONES
RADICALS
AROMATICS
BIOLOGY
CHROMOSOMES
COENZYMES
CONGENITAL DISEASES
CONGENITAL MALFORMATIONS
ELEMENTS
HEREDITARY DISEASES
HUMAN CHROMOSOMES
LUMINESCENCE
MALFORMATIONS
MAPPING
NONMETALS
NUCLEIC ACIDS
NUCLEOTIDES
ORGANIC COMPOUNDS
ORGANIC OXYGEN COMPOUNDS
PATHOLOGICAL CHANGES
PROTEINS
550400* - Genetics