title: Partial expression of RHc on the RHD polypeptide.
abstract: BACKGROUND
  In the human Rh blood group system, c is, after D, the most immunogenic antigen.
  
  
  METHODS
  The background of a new partial c phenotype (D(c)), identified on the RBCs of two unrelated white persons, was studied. This was done by analyzing the reactivity of the RBCs from the donors with anti-c reagents, by performing sequence analysis, and by carrying out transduction studies.
  
  
  RESULTS
  Serologic results suggested the existence of a new partial c phenotype. Genomic DNA and cDNA analysis revealed a normal RHCe allele, a normal RHD allele, and an RHD allele that carried two point mutations: 307T>C and 329T>C (the latter known to be associated with the DVII, Tar-positive phenotype). No normal RHc allele was found. Thus, it was most likely that c is encoded by the mutated RHD allele (phenotype DD(c)CCee). Indeed, subsequent transduction of K562 erythroleukemic cells with an RHD cDNA carrying the 307T>C point mutation (leading to S103P) resulted in the expression of c.
  
  
  CONCLUSIONS
  In the human Rh system, P103 is involved in the expression of c. Moreover, c can be expressed in vivo on the D polypeptide.
authors.affiliation: Department of Experimental Immunohematology, Central Laboratory of the Netherlands Blood Transfusion Service.
authors.forename: B H
authors.initials: BH
authors.lastname: Faas
authors.forename: E A
authors.initials: EA
authors.lastname: Beuling
authors.forename: P C
authors.initials: PC
authors.lastname: Ligthart
authors.forename: D J
authors.initials: DJ
authors.lastname: van Rhenen
authors.forename: C E
authors.initials: CE
authors.lastname: van der Schoot
mesh_terms: D000483:Alleles; D001782:Blood Donors; D018076:DNA, Complementary / Q000235:genetics; D000939:Epitopes; D004912:Erythrocytes / Q000378:metabolism*; D015870:Gene Expression; D006801:Humans; D007519:Isoantigens / Q000235:genetics*; D009154:Mutation; D010455:Peptides / Q000235:genetics; D012204:Rh-Hr Blood-Group System / Q000235:genetics*; D014162:Transfection; D014407:Tumor Cells, Cultured
chemical_list: D018076:DNA, Complementary; D000939:Epitopes; D007519:Isoantigens; D010455:Peptides; D012204:Rh-Hr Blood-Group System; C026410:Rho(D) antigen