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Mutations in aquaporin-1 in Phenotypically Normal Humans Without Functional CHIP Water Channels
Abstract
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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Cited by
Aquaporin water channels: molecular mechanisms for human diseases1
Agre, P., & Kozono, D. (2003) · FEBS Letters · doi:10.1016/s0014-5793(03)01083-4 · Cited by 490
Self-citationRole of a Single Aquaporin Isoform in Root Water Uptake
Javot, H., Lauvergeat, V., Santoni, V., Martin-Laurent, F., Güçlü, J., Vinh, J., Heyes, J., Franck, K. I., Schäffner, A. R., Bouchez, D., et al. (2003) · The Plant Cell · doi:10.1105/tpc.008888 · Cited by 371
Defective cellular trafficking of lacrimal gland aquaporin-5 in Sjögren's syndrome
Tsubota, K., Hirai, S., King, L. S., Agre, P., & Ishida, N. (2001) · The Lancet · doi:10.1016/s0140-6736(00)04140-4 · Cited by 256
Self-citationTournamille, C., Le Van Kim, C., Gane, P., Le Pennec, P. Y., Roubinet, F., Babinet, J., Cartron, J. P., & Colin, Y. (1998) · Blood · doi:10.1182/blood.v92.6.2147 · Cited by 137
Metadata
- Authors
- Preston, G. M., Smith, B. L., Zeidel, M. L., Moulds, J. J., & Agre, P.
- Venue
- Science
- Published
- 1994-09-09
- Volume
- 265
- Issue
- 5178
- Pages
- 1585-1587
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2084179773
- Cited by
- 311
- References
- 0
- FWCI
- 6.13
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Mutations in aquaporin-1 in Phenotypically Normal Humans Without Functional CHIP Water Channels. https://app.cochat.ai/papers/10.1126/science.7521540
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- Preston, G. M., Smith, B. L., Zeidel, M. L., Moulds, J. J., & Agre, P. (1994). Mutations in aquaporin-1 in Phenotypically Normal Humans Without Functional CHIP Water Channels. Science. https://doi.org/10.1126/science.7521540
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
