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

Journal Article · Thu Aug 01 04:00:00 EDT 1996 · Genomics

DOI:https://doi.org/10.1006/geno.1996.0396· OSTI ID:465991

Ma, Tonghui; Yang, Baoxue; Verkman, A S ^[1]

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1. 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, Journal Name: Genomics Journal Issue: 3 Vol. 35; ISSN 0888-7543; ISSN GNMCEP
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
AMINO ACID SEQUENCE
DNA SEQUENCING
DNA-CLONING
FLUORESCENCE
GENE MUTATIONS
GENE REGULATION
GENETIC MAPPING
HUMAN CHROMOSOME 12
IN-SITU HYBRIDIZATION
KIDNEYS
POLYMERASE CHAIN REACTION
PORINS
SOMATIC CELLS
STRUCTURE-ACTIVITY RELATIONSHIPS
TISSUE DISTRIBUTION
TRANSCRIPTION
WATER