Blood group Rh(CE) polypeptide is a protein that in humans is encoded by the RHCEgene.[1][2] RHCE has also recently been designated CD240CE (cluster of differentiation 240CE).
The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene which encodes both the RhC and RhE antigens on a single polypeptide and a second gene which encodes the RhD protein. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. Alternative splicing of this gene results in four transcript variants encoding four different isoforms.[2]
A recent study in the population of the island of Sardinia shows the association of a noncoding variant in the RHCE gene (rs630337) with an increased erythrocyte sedimentation rate(ESR). This suggest a possible causal effect of this polymorphism on this inflammatory marker despite not found in coding region of the gene.[3]
References
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Chérif-Zahar B, Mattéi MG, Le Van Kim C, et al. (1991). "Localization of the human Rh blood group gene structure to chromosome region 1p34.3-1p36.1 by in situ hybridization". Hum. Genet. 86 (4): 398–400. doi:10.1007/BF00201843. PMID1900257.
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Bloy C, Blanchard D, Dahr W, et al. (1988). "Determination of the N-terminal sequence of human red cell Rh(D) polypeptide and demonstration that the Rh(D), (c), and (E) antigens are carried by distinct polypeptide chains". Blood. 72 (2): 661–6. PMID3135863.
Kajii E, Umenishi F, Iwamoto S, Ikemoto S (1993). "Isolation of a new cDNA clone encoding an Rh polypeptide associated with the Rh blood group system". Hum. Genet. 91 (2): 157–62. doi:10.1007/BF00222717. PMID7916743.
Chérif-Zahar B, Le Van Kim C, Rouillac C, et al. (1994). "Organization of the gene (RHCE) encoding the human blood group RhCcEe antigens and characterization of the promoter region". Genomics. 19 (1): 68–74. doi:10.1006/geno.1994.1014. PMID8188244.
Huang CH (1996). "Alteration of RH gene structure and expression in human dCCee and DCW-red blood cells: phenotypic homozygosity versus genotypic heterozygosity". Blood. 88 (6): 2326–33. PMID8822955.
