TY - JOUR
T1 - The human aquaporin-5 gene
T2 - Molecular characterization and chromosomal localization
AU - Lee, M. Douglas
AU - Bhakta, Kushal Y.
AU - Raina, Surabhi
AU - Yonescu, Raluca
AU - Griffin, Constance A.
AU - Copeland, Neal G.
AU - Gilbert, Debra J.
AU - Jenkins, Nancy A.
AU - Preston, Gregory M.
AU - Agre, Peter
PY - 1996/4/12
Y1 - 1996/4/12
N2 - The cDNA for the fifth mammalian aquaporin (AQP5) was isolated from rat, and expression was demonstrated in rat salivary and lacrimal glands, cornea, and lung (Raina, S., Preston, G. M., Guggino, W. B., and Agre, P. (1995) J. Biol. Chem. 270, 1908-1912). Here we report the isolation and characterization of the human AQP5 cDNA and gene. The AQP5 cDNA from a human submaxillary gland library contains a 795-base pair open reading frame encoding a 265-amino acid protein. The deduced amino acid sequences of human and rat AQP5 are 91% identical with 6 substitutions in the 22-amino acid COOH-terminal domain. Expression of human AQP5 in Xenopus oocytes conferred mercurial-sensitive osmotic water permeability (P(f)) equivalent to other aquaporins. The human AQP5 structural gene resides within a 7.4-kilobase SaII-EcoRI fragment with four exons corresponding to amino acids 1-121, 122- 176, 177-204, and 205-265 separated by introns of 1.2, 0.5, and 0.9 kilobases. A transcription initiation site was identified 518 base pairs upstream of the initiating methionine. Genomic Southern analysis indicated that AQP5 is a single copy gene which localized to human chromosome 12q13; this coincides with the chromosomal locations of the homologous human genes MIP and AQP2, thus confirming 12q13 as the site of an aquaporin gene cluster. The mouse gene localized to distal chromosome 15. This information may permit molecular characterization of AQP5 expression during normal development and in clinical disorders.
AB - The cDNA for the fifth mammalian aquaporin (AQP5) was isolated from rat, and expression was demonstrated in rat salivary and lacrimal glands, cornea, and lung (Raina, S., Preston, G. M., Guggino, W. B., and Agre, P. (1995) J. Biol. Chem. 270, 1908-1912). Here we report the isolation and characterization of the human AQP5 cDNA and gene. The AQP5 cDNA from a human submaxillary gland library contains a 795-base pair open reading frame encoding a 265-amino acid protein. The deduced amino acid sequences of human and rat AQP5 are 91% identical with 6 substitutions in the 22-amino acid COOH-terminal domain. Expression of human AQP5 in Xenopus oocytes conferred mercurial-sensitive osmotic water permeability (P(f)) equivalent to other aquaporins. The human AQP5 structural gene resides within a 7.4-kilobase SaII-EcoRI fragment with four exons corresponding to amino acids 1-121, 122- 176, 177-204, and 205-265 separated by introns of 1.2, 0.5, and 0.9 kilobases. A transcription initiation site was identified 518 base pairs upstream of the initiating methionine. Genomic Southern analysis indicated that AQP5 is a single copy gene which localized to human chromosome 12q13; this coincides with the chromosomal locations of the homologous human genes MIP and AQP2, thus confirming 12q13 as the site of an aquaporin gene cluster. The mouse gene localized to distal chromosome 15. This information may permit molecular characterization of AQP5 expression during normal development and in clinical disorders.
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U2 - 10.1074/jbc.271.15.8599
DO - 10.1074/jbc.271.15.8599
M3 - Article
C2 - 8621489
AN - SCOPUS:15844401037
SN - 0021-9258
VL - 271
SP - 8599
EP - 8604
JO - Journal of Biological Chemistry
JF - Journal of Biological Chemistry
IS - 15
ER -