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Gene Review

RHCE  -  Rh blood group, CcEe antigens

Homo sapiens

Synonyms: Blood group Rh(CE) polypeptide, CD240CE, RH, RH30A, RHC, ...
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Disease relevance of RHCE

  • These findings, of iron overload and free radical damage, have implications for treatment of RHD [1].
  • Variant alleles are associated with red hair colour and fair skin, known as the RHC phenotype, as well as skin cancer risk [2].
  • We describe the molecular cloning of a serogroup 2 simian retrovirus (SRV; D2/RHE/OR) and present the sequence of its envelope (env) glycoprotein gene and 3' long terminal repeat region [3].
  • Substantial progress has been made in expression, purification, crystallisation and solution studies of HIV RT and RH, in particular with regards to aspects of structural dynamics [4].
  • RHC 3288 [1-methyl-2(1,3,4-oxadiazol-2(3H)-one-5-yl) benzimidazole] and twenty-five related 5-substituted oxadiazolones have been investigated for their antiallergic activities in three in vitro models of anaphylaxis [5].

Psychiatry related information on RHCE

  • RHD sequencing: a new tool for decision making on transfusion therapy and provision of Rh prophylaxis [6].
  • When frequency perception deficits were controlled, only patients with RHD showed time perception deficits [7].
  • One patient with a right inferior occipito-temporal lesion had a facial emotion imagery generation defect, other RHD patients displayed a facial affect agnosia (being impaired on emotional imagery and emotional perceptual tasks), while other RHD patients had perceptual defects with sparing of imagery performance [8].
  • Comparison of the Pt4-Rh(111) current-time transients recorded at 0.635, 0.675, and 0.750 V versus RHE (reversible hydrogen electrode) with those of pure Rh(111) and Pt(111) shows greatly reduced reaction times [9].
  • Analyses focussing on five dimensions of gestural performance revealed an overall frequency of apraxia of 54% in patients with LHD and 30% in patients with RHD [10].

High impact information on RHCE

  • The Rhesus (RH) blood group locus is composed of two related structural genes, D and CcEe, that encode red cell membrane proteins carrying the D, Cc and Ee antigens [11].
  • To test the hypothesis that iron overload induces free radical damage in rhesus haemolytic disease (RHD), cord blood plasma of babies with RHD was compared with that of controls matched for gestational age [1].
  • Babies with RHD had higher ferritin levels, lower latent iron-binding capacity, increased concentrations of lipid-peroxidation products, and low vitamin C levels [1].
  • A two-locus gene conversion model with selection and its application to the human RHCE and RHD genes [12].
  • The observed pattern of DNA variation in this region is consistent with the selection model developed in this article, suggesting that strong selection might be working to maintain the RHCE/RHD antigen variation in the two-locus system [12].

Chemical compound and disease context of RHCE

  • The effect of Rhein (RH) and Lonidamine (LND) on the clonogenic activity of cultured human glioma cells has been evaluated [13].
  • RH, although less effective than ADM, inhibits ferricyanide reduction by human glioma cells in a dose-dependent manner as well as ferricyanide-induced proton release [14].
  • The effect of the combination of adriamycin (ADM) with the anti-inflammatory drug rhein (RH) on the membrane redox activity in human glioma cells was investigated [14].
  • The antiallergic activity profile of RHC 3414 (7-phenylpyrido (3', 2': 4, 5)-thieno (3.2-d)-1, 2, 3-triazine-4(3H)-one) has been compared with that of disodium cromoglycate (DSCG) in several in vitro and in vivo models of anaphylaxis and inflammation [15].
  • The effect of Rhein (RH) on the protein synthetic activity and adenylate energy charge in human glioma cells cultured in vitro has been investigated [16].

Biological context of RHCE

  • We show that five of six homozygous individuals with the so-called Rh D-- phenotype, who express no red-cell antigens of the C/c and E/e series, have rearranged RHCE genes in which internal sequences have been replaced by the corresponding sequences from RHD [17].
  • This interval is characterized by an exceptionally high degree of sequence homology between RHCE and RHD, a high density of dispersed repetitive elements, and the presence of an alternating purine-pyrimidine copolymer tract [17].
  • Instead of the normal RHCE gene, both variants carried a hybrid RHCE-D-CE gene in which exons 4 to 9 (Dc- complex) and 2 (or 3) to 9 (DCw- complex) of the RHCE gene, respectively, have been substituted by the equivalent region of the RHD gene [18].
  • We have also used new polymorphisms to construct haplotypes which suggest that intragenic recombination played a major role in the generation of the less common haplotypes, but only if RHD lies 3' of RHCE, i.e. the order is C-E-D [19].
  • The Rh blood group antigens derive from 2 genes, RHD and RHCE, that are located at chromosomal position 1p34.1-1p36 (chromosome 1, short arm, region 3, band 4, subband 1, through band 6) [20].

Anatomical context of RHCE

  • Rh blood group antigens of the D, C/c, and E/e series are carried by at least three red cell membrane polypeptides encoded by two highly related genes, RHD and RHCE [18].
  • The 5' flanking region of the RHCE gene, from nucleotide -600 to +42, exhibited a significant transcriptional activity after transfection in the erythroleukemic cell line K562, but not in the nonhematopoietic cell line HeLa [21].
  • The presence of Cys16 in RHCE ce is associated with the R(0) (Dce) haplotype in Africans, leading to a weak 'e' antigen expression on red blood cells (RBCs) [22].
  • Both c and E antigens were expressed after transduction of K562 cells with a single cDNA, indicating that the c antigen does not arise by alternative splicing (exon skipping) of the product of the RHCE gene, as has been suggested [23].
  • cDNA clones encoding a human blood group Rh polypeptide were isolated from a human bone marrow cDNA library by using a polymerase chain reaction-amplified DNA fragment encoding the known common N-terminal region of the Rh proteins [24].

Associations of RHCE with chemical compounds

  • A proline at position 226 in RHCE encodes the antigen E. STUDY DESIGN AND METHODS: A blood sample of ccDEe phenotype was referred as suspected D category VI [25].
  • Rh blood group antigens are associated with non-glycosylated human erythrocyte membrane proteins encoded by two closely related genes, RHCE and RHD, and with a glycoprotein, a critical co-expressing factor encoded by the RH50 gene [26].
  • Deletion of arginine codon 229 in the Rhce gene alters e and f but not c antigen expression [27].
  • The gene most probably cosegregates with a C allele encoding Cys 16 (normally encoded only by the C allele) and Val245 (responsible for VS antigenicity when encoded by the RHCE gene) [28].
  • RESULTS: The occurrence of VS was shown to be related to a single-point mutation in exon 5 of the RHCE gene (cytosine 733 guanine, leading to the Leu245Val substitution) [28].

Other interactions of RHCE

  • Two Rh polypeptide cDNAs have been isolated from the PCR products and tentatively designated RhPI cDNA and RhPII cDNA [29].
  • Finally, the absence or low expression of red cell CD47 in CD47(-/-) mice and in some humans carrying RHCE gene variants (D--, D., and R(N)), respectively, had no detectable effect on protein 4.2 and RhAG expression [30].
  • The expression of its antigens is controlled by a two-component genetic system consisting of RH and RHAG loci, which encode Rh30 polypeptides and Rh50 glycoprotein, respectively [31].
  • Their RHCE alleles were determined by nucleotide sequencing from genomic DNA and by a polymerase chain reaction with sequence-specific priming [32].

Analytical, diagnostic and therapeutic context of RHCE

  • We also amplified exon 5 of the RHCE by PCR and subjected the amplified product to restriction fragment length polymorphism analysis, using BfaI, in order to determine the VS status [22].
  • The sequence analysis of RHCE transcripts has revealed that RhE/e and C/c serological phenotypes are associated with a nucleotide substitution in exon 5 and six substitutions in exons 1 and 2 of RHCE gene, respectively [26].
  • RT-PCR detected a triplet deletion (Delta685AGA687) in the Rhce gene that specifies codon 229 for arginine (Arg229) [27].
  • This result was in agreement with Northern blot analysis, suggesting that the expression of the RH locus is restricted to the erythroid/megakaryocytic lineage [21].
  • BACKGROUND AND OBJECTIVES: During the past 10 years several DNA-typing methods have been developed to complement routine serological typing for determination of polymorphisms in the ABO, RH, KEL, JK and FY blood group genes [33].


  1. Iron overload, free radical damage, and rhesus haemolytic disease. Berger, H.M., Lindeman, J.H., van Zoeren-Grobben, D., Houdkamp, E., Schrijver, J., Kanhai, H.H. Lancet (1990) [Pubmed]
  2. Altered cell surface expression of human MC1R variant receptor alleles associated with red hair and skin cancer risk. Beaumont, K.A., Newton, R.A., Smit, D.J., Leonard, J.H., Stow, J.L., Sturm, R.A. Hum. Mol. Genet. (2005) [Pubmed]
  3. Simian AIDS type D serogroup 2 retrovirus: isolation of an infectious molecular clone and sequence analyses of its envelope glycoprotein gene and 3' long terminal repeat. Marracci, G.H., Kelley, R.D., Pilcher, K.Y., Crabtree, L., Shiigi, S.M., Avery, N., Leo, G., Webb, M.C., Hallick, L.M., Axthelm, M.K. J. Virol. (1995) [Pubmed]
  4. Recent progress in the design of small molecule inhibitors of HIV RNase H. Klumpp, K., Mirzadegan, T. Curr. Pharm. Des. (2006) [Pubmed]
  5. RHC 3288 [1-methyl-2(1,3,4-oxadiazol-2(3H)-one-5-yl) benzimidazole] and related compounds. Novel inhibitors of histamine release from rat mast cells and human basophils. Khandwala, A., Coutts, S., Dally-Meade, V., Jariwala, N., Musser, J., Brown, R., Jones, H., Loev, B., Weinryb, I. Biochem. Pharmacol. (1983) [Pubmed]
  6. RHD sequencing: a new tool for decision making on transfusion therapy and provision of Rh prophylaxis. Legler, T.J., Maas, J.H., Köhler, M., Wagner, T., Daniels, G.L., Perco, P., Panzer, S. Transfusion medicine (Oxford, England) (2001) [Pubmed]
  7. Cortical networks underlying mechanisms of time perception. Harrington, D.L., Haaland, K.Y., Knight, R.T. J. Neurosci. (1998) [Pubmed]
  8. Differential impact of right and left hemisphere lesions on facial emotion and object imagery. Bowers, D., Blonder, L.X., Feinberg, T., Heilman, K.M. Brain (1991) [Pubmed]
  9. CO oxidation on Pt-modified Rh(111) electrodes. Housmans, T.H., Feliu, J.M., Gómez, R., Koper, M.T. Chemphyschem : a European journal of chemical physics and physical chemistry. (2005) [Pubmed]
  10. Analyses of deficits in gestural pantomime. Roy, E.A., Black, S.E., Blair, N., Dimeck, P.T. Journal of clinical and experimental neuropsychology : official journal of the International Neuropsychological Society. (1998) [Pubmed]
  11. Molecular genetic basis of the human Rhesus blood group system. Mouro, I., Colin, Y., Chérif-Zahar, B., Cartron, J.P., Le Van Kim, C. Nat. Genet. (1993) [Pubmed]
  12. A two-locus gene conversion model with selection and its application to the human RHCE and RHD genes. Innan, H. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  13. Growth inhibition by rhein and lonidamine of human glioma cells in vitro. Floridi, A., Gentile, F.P., Bruno, T., Castiglione, S., Zeuli, M., Benassi, M. Anticancer Res. (1990) [Pubmed]
  14. Inhibition of membrane redox activity by rhein and adriamycin in human glioma cells. Fanciulli, M., Gentile, F.P., Bruno, T., Paggi, M.G., Benassi, M., Floridi, A. Anticancer Drugs (1992) [Pubmed]
  15. In vitro and in vivo immunopharmacologic properties of a new antiallergic agent RHC 3414. Khandwala, A., Sonnino-Goldman, P., Leibowitz, M., Dally-Meade, V., Donigi-Ruzza, D. Archives internationales de pharmacodynamie et de thérapie. (1984) [Pubmed]
  16. Protein synthetic activity and adenylate energy charge in Rhein-treated cultured human glioma cells. Delpino, A., Paggi, M.G., Gentile, P.F., Castiglione, S., Bruno, T., Benass, M., Floridi, A. Cancer Biochem. Biophys. (1992) [Pubmed]
  17. A recombination hot spot in the Rh genes revealed by analysis of unrelated donors with the rare D-- phenotype. Kemp, T.J., Poulter, M., Carritt, B. Am. J. Hum. Genet. (1996) [Pubmed]
  18. Molecular analysis of the structure and expression of the RH locus in individuals with D--, Dc-, and DCw- gene complexes. Chérif-Zahar, B., Raynal, V., D'Ambrosio, A.M., Cartron, J.P., Colin, Y. Blood (1994) [Pubmed]
  19. Evolution of the human RH (rhesus) blood group genes: a 50 year old prediction (partially) fulfilled. Carritt, B., Kemp, T.J., Poulter, M. Hum. Mol. Genet. (1997) [Pubmed]
  20. RHD gene deletion occurred in the Rhesus box. Wagner, F.F., Flegel, W.A. Blood (2000) [Pubmed]
  21. Organization of the gene (RHCE) encoding the human blood group RhCcEe antigens and characterization of the promoter region. Chérif-Zahar, B., Le Van Kim, C., Rouillac, C., Raynal, V., Cartron, J.P., Colin, Y. Genomics (1994) [Pubmed]
  22. Weakened expression of 'e' owing to concomitant occurrence of Cys16 and Val245 (VS antigen). Rodrigues, A., Rios, M., Costa, F.F., Saad, S.T., Pellegrino, J., Castilho, L. Vox Sang. (2004) [Pubmed]
  23. Expression of RHD and RHCE gene products using retroviral transduction of K562 cells establishes the molecular basis of Rh blood group antigens. Smythe, J.S., Avent, N.D., Judson, P.A., Parsons, S.F., Martin, P.G., Anstee, D.J. Blood (1996) [Pubmed]
  24. Molecular cloning and protein structure of a human blood group Rh polypeptide. Chérif-Zahar, B., Bloy, C., Le Van Kim, C., Blanchard, D., Bailly, P., Hermand, P., Salmon, C., Cartron, J.P., Colin, Y. Proc. Natl. Acad. Sci. U.S.A. (1990) [Pubmed]
  25. A D(V)-like phenotype is obliterated by A226P in the partial D DBS. Wagner, F.F., Ernst, M., Sonneborn, H.H., Flegel, W.A. Transfusion (2001) [Pubmed]
  26. Expression analysis of human Rhesus blood group antigens by gene transduction into erythroid and non-erythroid cells. Iwamoto, S., Yamasaki, M., Kawano, M., Okuda, H., Omi, T., Takahashi, J., Tani, Y., Omine, M., Kajii, E. Int. J. Hematol. (1998) [Pubmed]
  27. Deletion of arginine codon 229 in the Rhce gene alters e and f but not c antigen expression. Chen, Y.X., Peng, J., Novaretti, M., Reid, M.E., Huang, C.H. Transfusion (2004) [Pubmed]
  28. Molecular background of VS and weak C expression in blacks. Faas, B.H., Beckers, E.A., Wildoer, P., Ligthart, P.C., Overbeeke, M.A., Zondervan, H.A., von dem Borne, A.E., van der Schoot, C.E. Transfusion (1997) [Pubmed]
  29. Isolation of a new cDNA clone encoding an Rh polypeptide associated with the Rh blood group system. Kajii, E., Umenishi, F., Iwamoto, S., Ikemoto, S. Hum. Genet. (1993) [Pubmed]
  30. Evidence that the red cell skeleton protein 4.2 interacts with the Rh membrane complex member CD47. Mouro-Chanteloup, I., Delaunay, J., Gane, P., Nicolas, V., Johansen, M., Brown, E.J., Peters, L.L., Van Kim, C.L., Cartron, J.P., Colin, Y. Blood (2003) [Pubmed]
  31. Molecular biology and genetics of the Rh blood group system. Huang, C.H., Liu, P.Z., Cheng, J.G. Semin. Hematol. (2000) [Pubmed]
  32. The RHCE allele ceSL: the second example for D antigen expression without D-specific amino acids. Chen, Q., Hustinx, H., Flegel, W.A. Transfusion (2006) [Pubmed]
  33. Phenotype prediction by DNA-based typing of clinically significant blood group systems in Jordanian blood donors. Irshaid, N.M., Ramadan, S., Wester, E.S., Olausson, P., Hellberg, A., Merza, J.Y., Olsson, M.L. Vox Sang. (2002) [Pubmed]
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