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Human aquaporin adipose (AQPap) gene. Genomic structure, promoter analysis and functional mutation
Human aquaporin adipose (AQPap) gene. Genomic structure, promoter analysis and functional mutation
- Source :
- European journal of biochemistry. 269(7)
- Publication Year :
- 2002
-
Abstract
- Aquaporin adipose (AQPap), which we identified from human adipose tissue, is a glycerol channel in adipocyte [Kishida et al. (2000) J. Biol. Chem. 275, 20896-20902]. In the current study, we determined the genomic structure of the human AQPap gene, and identified three AQPap-like genes that resembled (approximately 95%) AQPap, with little expression in human tissues. The AQPap promoter contained a putative peroxisome proliferator response element (PPRE) at -46 to -62, and a putative insulin response element (IRE) at -542/-536. Deletion of the PPRE abolished the pioglitazone-mediated induction of AQPap promoter activity in 3T3-L1 adipocytes. Deletion and single base pair substitution analysis of the IRE abolished the insulin-mediated suppression of the human AQPap gene. Analysis of AQPap sequence in human subjects revealed three missense mutations (R12C, V59L and G264V), and two silent mutations (A103A and G250G). The cRNA injection of the missense mutants into Xenopus oocytes revealed the absence of the activity to transport glycerol and water in the AQPap-G264V protein. In the subject homozygous for AQPap-G264V, exercise-induced increase in plasma glycerol was not observed in spite of the increased plasma noradrenaline. We suggest that AQPap is responsible for the increase of plasma glycerol during exercise in humans.
- Subjects :
- Silent mutation
Response element
Mutant
Blotting, Western
Adipose tissue
Biology
Hybrid Cells
medicine.disease_cause
Aquaporins
Biochemistry
chemistry.chemical_compound
Adipocyte
medicine
Humans
Promoter Regions, Genetic
Gene
DNA Primers
Mutation
Base Sequence
Reverse Transcriptase Polymerase Chain Reaction
Point mutation
Chromosome Mapping
Exons
Molecular biology
Introns
Blotting, Southern
chemistry
Chromosomes, Human, Pair 9
Subjects
Details
- ISSN :
- 00142956
- Volume :
- 269
- Issue :
- 7
- Database :
- OpenAIRE
- Journal :
- European journal of biochemistry
- Accession number :
- edsair.doi.dedup.....59c339ac257aa4569c4f688f79396a5d