Linkage between the Colton blood group locus and ASSP11 on chromosome 7

Defective Urinary Concentrating Ability Due to a Complete Deficiency of Aquaporin-1

“…2 The gene for aquaporin-1 ( AQP1 ) on chromosome 7 colocalizes with the Colton blood-group antigen, 3,4 and the Colton blood-group antigen polymorphism was identified as a substitution of a single amino acid in an extracellular domain of aquaporin-1. 5 The International Blood Group Reference Laboratory has confirmed the existence of only six kindreds who lack the Colton blood group.…”

Colton Blood Group System

“…Localisation of AQP1 to the same region of chromosome 7 as the Colton blood group gene led to the discovery that the Colton antigens are on AQP1 [11] . Smith et al .…”

“…Monosomy 7 is often associated with Co(a − b − ) Co: − 3 phenotype or with weakening of Co a and Co3 [42 -44] . [45] suggested that absence of Colton antigens in some monosomy 7 patients results from loss of one allele, owing to the monosomy, and altered expression of the product of the other allele, resulting from the concomitant haematological disorder. None of these eight had been recently transfused, whereas transfused red cells were present in the circulation of 21 of the remaining 27 Co(a + b − ) patients.…”

Chapter 1 discovery of the aquaporins and their impact on basic and clinical physiology

“…By classic linkage analyses, the human Colton blood group antigens were linked to the short arm of human chromosome 7 (Zelinkski et al, 1990). Demonstration of the AQP1 gene locus at the short arm of human chromosome 7 provided a strong clue that AQP1 protein is the structural basis of Co antigens (personal discussions with Marion Reid and Colvin Redman, New York Blood Center, 1993).…”