cDNA cloning and gene structure of a novel water channel expressed exclusively in human kidney: Evidence for a gene cluster of aquaporins at chromosome locus 12q13
- Univ. of California, San Francisco, CA (United States); and others
A 1.8-kb cDNA clone (designed hKID, gene symbol AQP2L) with homology to the aquaporins was isolated from a human kidney cDNA library. The longest open reading frame of 846 bp encoded a 282-amino-acid hydrophobic protein that contained the conserved NPA motifs of MIP family members. Cell-free translation produced a nonglycosylated protein migrating at 29 kDa. Northern blot analysis revealed a 2.2-kb transcript expressed only in human kidney. PCR/Southern blot analysis of human kidney cDNA using primers flanking the hKID coding sequence revealed expression of a full-length mRNA and short transcripts with partial exon 1 and partial exon 4 deletions. Genomic Southern blot indicted a single-copy hKID gene. PCR analysis of a human/rodent somatic hybrid panel localized the hKID gene to chromosome 12. Chromosomal fluorescence in situ hybridization mapped the hKID (AQP2L) gene to chromosome locus 12q13, the same location a as the AQP-2 and MIP genes. The high sequence homology, similar genomic structure, and identical chromosomal loci of hKID, MIP, and AQP-2 suggest a MIP family gene cluster at chromosome locus 12q13. Further work is needed to establish the physiological significance of hKID. 43 refs., 6 figs.
- OSTI ID:
- 465991
- Journal Information:
- Genomics, Vol. 35, Issue 3; Other Information: PBD: 1 Aug 1996
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
BASIC STUDIES
PORINS
DNA-CLONING
STRUCTURE-ACTIVITY RELATIONSHIPS
GENE REGULATION
TISSUE DISTRIBUTION
GENETIC MAPPING
TRANSCRIPTION
DNA SEQUENCING
GENE MUTATIONS
HUMAN CHROMOSOME 12
WATER
KIDNEYS
POLYMERASE CHAIN REACTION
FLUORESCENCE
IN-SITU HYBRIDIZATION
SOMATIC CELLS
AMINO ACID SEQUENCE