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Science 9 September 1994:
Vol. 265. no. 5178, pp. 1585 - 1587
DOI: 10.1126/science.7521540
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Articles

Science, Vol 265, Issue 5178, 1585-1587
Copyright © 1994 by American Association for the Advancement of Science

articles

Mutations in aquaporin-1 in phenotypically normal humans without functional CHIP water channels

GM Preston, BL Smith, ML Zeidel, JJ Moulds, and P Agre

Department of Biological Chemistry, Johns Hopkins University School of Medicine, Baltimore, MD 21205.

The gene aquaporin-1 encodes channel-forming integral protein (CHIP), a member of a large family of water transporters found throughout nature. Three rare individuals were identified who do not express CHIP-associated Colton blood group antigens and whose red cells exhibit low osmotic water permeabilities. Genomic DNA analyses demonstrated that two individuals were homozygous for different nonsense mutations (exon deletion or frameshift), and the third had a missense mutation encoding a nonfunctioning CHIP molecule. Surprisingly, none of the three suffers any apparent clinical consequence, which raises questions about the physiological importance of CHIP and implies that other mechanisms may compensate for its absence.


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Optical dysfunction of the crystalline lens in aquaporin-0-deficient mice.
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