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Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.
- Source :
-
American journal of human genetics [Am J Hum Genet] 2013 Aug 08; Vol. 93 (2), pp. 330-5. Date of Electronic Publication: 2013 Jul 03. - Publication Year :
- 2013
-
Abstract
- Autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma is characterized by the adoption of a white, spongy appearance of affected areas upon exposure to water. After exome sequencing, missense mutations were identified in AQP5, encoding water-channel protein aquaporin-5 (AQP5). Protein-structure analysis indicates that these AQP5 variants have the potential to elicit an effect on normal channel regulation. Immunofluorescence data reveal the presence of AQP5 at the plasma membrane in the stratum granulosum of both normal and affected palmar epidermis, indicating that the altered AQP5 proteins are trafficked in the normal manner. We demonstrate here a role for AQP5 in the palmoplantar epidermis and propose that the altered AQP5 proteins retain the ability to form open channels in the cell membrane and conduct water.<br /> (Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)
- Subjects :
- Base Sequence
Epidermis physiopathology
Genes, Dominant
Humans
Keratoderma, Palmoplantar, Diffuse physiopathology
Models, Molecular
Molecular Sequence Data
Pedigree
Protein Transport
Water metabolism
Aquaporin 5 genetics
Cell Membrane metabolism
Epidermis metabolism
Keratoderma, Palmoplantar, Diffuse genetics
Mutation
Wrist physiopathology
Subjects
Details
- Language :
- English
- ISSN :
- 1537-6605
- Volume :
- 93
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- American journal of human genetics
- Publication Type :
- Academic Journal
- Accession number :
- 23830519
- Full Text :
- https://doi.org/10.1016/j.ajhg.2013.06.008