Naturally occurring AQP5 mutations in rats and humans and their affected phenotypes
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 am...
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Faculty of Veterinary Medicine, Belgrade
2021-01-01
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doaj-1db5639c9110404db4ddcb1d5ebf55e52021-05-27T13:12:26ZsrpFaculty of Veterinary Medicine, BelgradeVeterinarski Glasnik0350-24572406-07712021-01-0175111910.2298/VETGL200928013H0350-24572000013HNaturally occurring AQP5 mutations in rats and humans and their affected phenotypesHosoi Kazuo0Karabasil Mileva Ratko1Murdiastuti Kwartarini2Department of Molecular Oral Physiology, Division of Oral Science, Graduate School of Biomedical Sciences, Tokushima University, Tokushima-shi, Tokushima, Japan + Kosei Pharmaceutical Co. Ltd., Osaka-shi, Osaka, JapanRitz Dental Clinic, Dubai Festival City, Dubai, United Arab EmiratesDepartment of Periodontology, Faculty of Dentistry, Universitas Gadjah Mada, Yogyakarta, IndonesiaThirteen 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. 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 AQP5 cDNA resulted in amino acid substitutions of Gly103 for Asp103, and causes diminished expression of its protein product. In humans, several SNPs in AQP5 are found in European and Chinese families and cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.http://www.doiserbia.nb.rs/img/doi/0350-2457/2021/0350-24572000013H.pdfaquaporin 5 (aqp5)salivary glandssingle nuclear polymorphism (snp) |
collection |
DOAJ |
language |
srp |
format |
Article |
sources |
DOAJ |
author |
Hosoi Kazuo Karabasil Mileva Ratko Murdiastuti Kwartarini |
spellingShingle |
Hosoi Kazuo Karabasil Mileva Ratko Murdiastuti Kwartarini Naturally occurring AQP5 mutations in rats and humans and their affected phenotypes Veterinarski Glasnik aquaporin 5 (aqp5) salivary glands single nuclear polymorphism (snp) |
author_facet |
Hosoi Kazuo Karabasil Mileva Ratko Murdiastuti Kwartarini |
author_sort |
Hosoi Kazuo |
title |
Naturally occurring AQP5 mutations in rats and humans and their affected phenotypes |
title_short |
Naturally occurring AQP5 mutations in rats and humans and their affected phenotypes |
title_full |
Naturally occurring AQP5 mutations in rats and humans and their affected phenotypes |
title_fullStr |
Naturally occurring AQP5 mutations in rats and humans and their affected phenotypes |
title_full_unstemmed |
Naturally occurring AQP5 mutations in rats and humans and their affected phenotypes |
title_sort |
naturally occurring aqp5 mutations in rats and humans and their affected phenotypes |
publisher |
Faculty of Veterinary Medicine, Belgrade |
series |
Veterinarski Glasnik |
issn |
0350-2457 2406-0771 |
publishDate |
2021-01-01 |
description |
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. 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 AQP5 cDNA resulted in amino acid substitutions of Gly103 for Asp103, and causes diminished expression of its protein product. In humans, several SNPs in AQP5 are found in European and Chinese families and cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. |
topic |
aquaporin 5 (aqp5) salivary glands single nuclear polymorphism (snp) |
url |
http://www.doiserbia.nb.rs/img/doi/0350-2457/2021/0350-24572000013H.pdf |
work_keys_str_mv |
AT hosoikazuo naturallyoccurringaqp5mutationsinratsandhumansandtheiraffectedphenotypes AT karabasilmilevaratko naturallyoccurringaqp5mutationsinratsandhumansandtheiraffectedphenotypes AT murdiastutikwartarini naturallyoccurringaqp5mutationsinratsandhumansandtheiraffectedphenotypes |
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