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Title: 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

Abstract

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.

Authors:
; ;  [1]
  1. Univ. of California, San Francisco, CA (United States); and others
Publication Date:
OSTI Identifier:
465991
Resource Type:
Journal Article
Journal Name:
Genomics
Additional Journal Information:
Journal Volume: 35; Journal Issue: 3; Other Information: PBD: 1 Aug 1996
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, 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

Citation Formats

Ma, Tonghui, Yang, Baoxue, and Verkman, A S. 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. United States: N. p., 1996. Web. doi:10.1006/geno.1996.0396.
Ma, Tonghui, Yang, Baoxue, & Verkman, A S. 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. United States. https://doi.org/10.1006/geno.1996.0396
Ma, Tonghui, Yang, Baoxue, and Verkman, A S. 1996. "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". United States. https://doi.org/10.1006/geno.1996.0396.
@article{osti_465991,
title = {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},
author = {Ma, Tonghui and Yang, Baoxue and Verkman, A S},
abstractNote = {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.},
doi = {10.1006/geno.1996.0396},
url = {https://www.osti.gov/biblio/465991}, journal = {Genomics},
number = 3,
volume = 35,
place = {United States},
year = {Thu Aug 01 00:00:00 EDT 1996},
month = {Thu Aug 01 00:00:00 EDT 1996}
}