TY - JOUR AU - Hosoi, Kazuo AU - Karabasil, Mileva AU - Murdiastuti, Kwartarini PY - 2021/05/17 Y2 - 2024/03/29 TI - Naturally occurring AQP5 mutations in rats and humans and their affected phenotypes JF - Veterinarski Glasnik JA - Vet Glas VL - 75 IS - 1 SE - Review DO - 10.2298/VETGL200928013H UR - https://veterinarskiglasnik.rs/index.php/vg/article/view/174 SP - 1-19 AB - <p>Thirteen members of aquaporin (AQP), a water channel, are expressed in mammals. In this review, we briefly overview these mammalian AQPs, then focus on AQP5, an exocrine gland-type AQP. Namely, we discuss: (1) the mechanism for coupling of AQP5 dynamics with the secretion and restoration cycle of amylase after isoproterenol (IPR) in the parotid gland (PG); (2) roles of parasympathetic nerve for maintaining AQP5 level in the submandibular gland (SMG), and; (3) AQP5 down-regulation in an experimental pathological model by LPS administration in the PG. <br />We then move to the effects of single nucleotide mutation (SNP) found in rats and humans and its affected phenotypes. That is, G308A point mutation found in rat <em>AQP5</em> cDNA resulted in amino acid substitutions of Gly103 for Asp103, and causes diminished expression of its protein product. In humans, several SNPs in <em>AQP5</em> are found in European and Chinese families and cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.</p> ER -