title: Cloning, characterization, and chromosomal mapping of human aquaporin of collecting duct.
abstract: We recently cloned a cDNA of the collecting duct apical membrane water channel of rat kidney, which is important for the formation of concentrated urine (Fushima, K., S. Uchida, Y. Hara, Y. Hirata, F. Marumo, and S. Sasaki. 1993. Nature [Lond.]. 361:549-552). Since urine concentrating ability varies among mammalian species, we examined whether an homologous protein is present in human kidney. By screening a human kidney cDNA library, we isolated a cDNA clone, designated human aquaporin of collecting duct (hAQP-CD), that encodes a 271-amino acid protein with 91% identity to rat AQP-CD. mRNA expression of hAQP-CD was predominant in the kidney medulla compared with the cortex, immunohistochemical staining of hAQP-CD was observed only in the collecting duct cells, and the staining was dominant in the apical domain. Functional expression study in Xenopus oocytes confirmed that hAQP-CD worked as a water channel. Western blot analysis of human kidney medulla indicated that the molecular mass of hAQP-CD is 29 kD, which is the same mass expected from the amino acid sequence. Chromosomal mapping of the hAQP-CD gene assigned its location to chromosome 12q13. These results could be important for future studies of the pathophysiology of human urinary concentration mechanisms in normal and abnormal states.
authors.affiliation: Second Department of Internal Medicine, School of Medicine, Tokyo Medical and Dental University, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Sasaki
authors.forename: K
authors.initials: K
authors.lastname: Fushimi
authors.forename: H
authors.initials: H
authors.lastname: Saito
authors.forename: F
authors.initials: F
authors.lastname: Saito
authors.forename: S
authors.initials: S
authors.lastname: Uchida
authors.forename: K
authors.initials: K
authors.lastname: Ishibashi
authors.forename: M
authors.initials: M
authors.lastname: Kuwahara
authors.forename: T
authors.initials: T
authors.lastname: Ikeuchi
authors.forename: K
authors.initials: K
authors.lastname: Inui
authors.forename: K
authors.initials: K
authors.lastname: Nakajima
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D051399:Aquaporin 2; D051403:Aquaporin 6; D020346:Aquaporins; D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12; D003001:Cloning, Molecular; D003919:Diabetes Insipidus / Q000235:genetics; D006801:Humans; D007473:Ion Channels / Q000737:chemistry / Q000235:genetics*; D007671:Kidney Concentrating Ability; D007685:Kidney Tubules, Collecting / Q000737:chemistry*; D008969:Molecular Sequence Data; D014982:Xenopus laevis
chemical_list: C496023:AQP2 protein, human; D051399:Aquaporin 2; D051403:Aquaporin 6; D020346:Aquaporins; D007473:Ion Channels