Scientific background: |
AQP4 (Aquaporin 4), also known as MERCURIAL-INSENSITIVE WATER CHANNEL; MIWC, is protein which in humans is encoded by the AQP4 gene. The aquaporins are a family of water-selective membrane channels found in animals, plants, and microorganisms. AQP4 is the predominant water channel in the brain and has an important role in brain water homeostasis. By fluorescence in situ hybridization, Lu et al. (1996) determined that the AQP4 gene maps to 18q11.2-q12.1. By interspecific backcross analysis, Turtzo et al. (1997) mapped the mouse Aqp4 gene to the proximal region of chromosome 18. Analyzing the expression of AQP4 in mammalian skeletal muscle, Frigeri et al. (1998) found that, in immunohistochemical experiments, affinity-purified AQP4 antibodies stained selectively the sarcolemma of fast-twitch fibers. Immunocytochemistry revealed strong AQP4 water channel expression in Muller cells in mouse retina and in fibrous astrocytes in optic nerve. |
References: |
1. Frigeri, A., Nicchia, G. P., Verbavatz, J. M., Valenti, G., Svelto, M. Expression of aquaporin-4 in fast-twitch fibers of mammalian skeletal muscle. J. Clin. Invest. 102: 695-703, 1998.
2. Lu, M., Lee, M. D., Smith, B. L., Jung, J. S., Agre, P., Verdijk, M. A. J., Merkx, G., Rijss, J. P. L., Deen, P. M. T. The human AQP4 gene: definition of the locus encoding two water channel polypeptides in brain. Proc. Nat. Acad. Sci. 93: 10908-10912, 1996.
3. Turtzo, L. C., Lee, M. D., Lu, M., Smith, B. L., Copeland, N. G., Gilbert, D. J., Jenkins, N. A., Agre, P. Cloning and chromosomal localization of mouse aquaporin 4: exclusion of a candidate mutant phenotype, ataxia. Genomics 41: 267-270, 1997.
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