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

Gregory M. Preston, Barbara L. Smith, Mark L. Zeidel, John J. Moulds, Peter Agre

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)1585-1587
Number of pages3
JournalScience
Volume265
Issue number5178
DOIs
StatePublished - Sep 9 1994

ASJC Scopus subject areas

  • General

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