Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma

Diana C. Blaydon, Lisbet K. Lind, Vincent Plagnol, Kenneth J. Linton, Francis J. D. Smith, Neil J. Wilson, W. H. Irwin McLean, Colin S. Munro, Andrew P. South, Irene M. Leigh, Edel A. O'Toole, Anita Lundström, David P. Kelsell (Lead / Corresponding author)

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48 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)330-335
Number of pages6
JournalAmerican Journal of Human Genetics
Volume93
Issue number2
Early online date3 Jul 2013
DOIs
Publication statusPublished - 8 Aug 2013

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    Blaydon, D. C., Lind, L. K., Plagnol, V., Linton, K. J., Smith, F. J. D., Wilson, N. J., McLean, W. H. I., Munro, C. S., South, A. P., Leigh, I. M., O'Toole, E. A., Lundström, A., & Kelsell, D. P. (2013). Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. American Journal of Human Genetics, 93(2), 330-335. https://doi.org/10.1016/j.ajhg.2013.06.008