Molecular aspects of Rh antigens

Abstract

Since the cloning of two Rh related cDNAs, several attempts to clarify the molecular basis of Rh system have been performed. The RHD gene is deleted in most Caucasians who lack the D antigen, whereas some Japanese RhD(-) individuals appear to have an intact RHD gene. The expression study in erythroleukemic cells revealed that c and E antigens were expressed on a single polypeptide encoded by a full length cE transcript and RhD transcript give rise to D and G antigens. Recent finishing of human genome euchromatin sequencing confirmed the genomic organization of RH locus in which RHD and CE face each other at their 3' tails, and the gene SMP1 is interspersed between them. Two 9 kb transposon-like DNA segments, called 'rhesus boxes' were identified in both upstream and downstream of the RHD gene. Murine genome sequence of rh locus indicate not only the ancient duplication of RH gene by the mechanism of retro-transposition before hominoids branched off but also the unequal crossing over at the 'rhesus boxes' resulting in an RHD deletion. The macrocomplex formed by Rh, RhAG and band3 is thought contributing for the physiological functions, anchoring lipid bilayer to spectrin-based framework and membrane transportation of CO2 and HCO3-.