ABH and Colton blood group antigens on aquaporin-1, the human red cell water channel protein.
The recent identification of the red cell water transporter (AQP1) has led to the identification of the "aquaporins", a new class of membrane proteins which function as water-selective transport proteins and are involved in many physiological processes. Identification of the chromosomal localization of the corresponding gene led to the recognition that AQP1 is the structural basis of the Colton blood group antigens. Analysis of individuals with the Colton null phenotype led to the recognition that homozygosity for knockout mutations in the corresponding gene is exceedingly rare but is without a significant clinical phenotype, predicting a redundancy in expression of other aquaporin homologs. These studies demonstrate the importance which molecular studies in red cell blood group antigens may play in diverse areas of biomedical research. Moreover, they provide another example that blood group antigens may be polymorphisms in functionally important proteins on the red cell surface.
Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205-2185, USA.
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D000017:ABO Blood-Group System / Q000032:analysis; D051398:Aquaporin 1; D020346:Aquaporins; D001789:Blood Group Antigens / Q000737:chemistry* / Q000235:genetics; D002240:Carbohydrate Sequence; D002897:Chromosomes, Human, Pair 7; D004910:Erythrocyte Membrane / Q000276:immunology*; D005796:Genes; D006801:Humans; D007473:Ion Channels / Q000737:chemistry / Q000172:deficiency / Q000235:genetics / Q000276:immunology*; D008958:Models, Molecular; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic
D000017:ABO Blood-Group System; C496020:AQP1 protein, human; D020346:Aquaporins; D001789:Blood Group Antigens; D007473:Ion Channels; D051398:Aquaporin 1