RHD (gene)

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Rh blood group, D antigen
Symbols RHD ; CD240D; DIIIc; RH; RH30; RHCED; RHDVA(TT); RHDel; RHPII; RHXIII; Rh4; RhDCw; RhII; RhK562-II; RhPI
External IDs OMIM111680 MGI1202882 HomoloGene7918 GeneCards: RHD Gene
Species Human Mouse
Entrez 6007 19746
Ensembl ENSG00000187010 ENSMUSG00000028825
UniProt Q02161 Q8CF94
RefSeq (mRNA) NM_001127691 NM_011270
RefSeq (protein) NP_001121163 NP_035400
Location (UCSC) Chr 1:
25.6 – 25.66 Mb
Chr 4:
134.86 – 134.9 Mb
PubMed search [1] [2]

Rh blood group, D antigen also known as Rh polypeptide 1 (RhPI) or cluster of differentiation 240D (CD240D) is a protein that in humans is encoded by the RHD gene.[1]

The RHD gene codes for the RhD erythrocyte membrane protein that is the Rh factor antigen of the Rh blood group system.[2] RHD has sequence similarity to RHCE, RhAG, RhBG, and RhCG and these five genes constitute the Rh family. It was proposed that the erythrocyte Rh complex is a heterotrimer of RhAG, RhD, and RhCE protein subunits.[3] RhAG is a functional ammonia transporter and is required for normal cell surface expression of RhD and RhCE. Patients who lack RhD/RhCE/RhAG on the surface of their erythrocytes have hemolytic anemia . Antibodies to the RhD protein can cause Rh disease.

Model organisms[edit]

Model organisms have been used in the study of RHD function. A conditional knockout mouse line, called Rhdtm1a(EUCOMM)Wtsi[8][9] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[10][11][12]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[6][13] Twenty five tests were carried out on mutant mice and one significant abnormality was observed: homozygous mutant males had a decrease in mean corpuscular haemoglobin.[6]


  1. ^ "Entrez Gene: Rh blood group". 
  2. ^ Westhoff, C. M. (2007). "The Structure and Function of the Rh Antigen Complex". Seminars in Hematology 44 (1): 42–50. doi:10.1053/j.seminhematol.2006.09.010. PMC 1831834. PMID 17198846.  edit
  3. ^ Gruswitz, F.; Chaudhary, S.; Ho, J. D.; Schlessinger, A.; Pezeshki, B.; Ho, C. -M.; Sali, A.; Westhoff, C. M.; Stroud, R. M. (2010). "Function of human Rh based on structure of RhCG at 2.1 A". Proceedings of the National Academy of Sciences 107 (21): 9638–9643. doi:10.1073/pnas.1003587107. PMC 2906887. PMID 20457942.  edit
  4. ^ "Salmonella infection data for Rhd". Wellcome Trust Sanger Institute. 
  5. ^ "Citrobacter infection data for Rhd". Wellcome Trust Sanger Institute. 
  6. ^ a b c Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. 
  7. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  8. ^ "International Knockout Mouse Consortium". 
  9. ^ "Mouse Genome Informatics". 
  10. ^ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.  edit
  11. ^ Dolgin E (2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  12. ^ Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. 
  13. ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism.". Genome Biol 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353. 

Further reading[edit]

  • Polin H, Danzer M, Gaszner W et al. (2009). "Identification of RHD alleles with the potential of anti-D immunization among seemingly D- blood donors in Upper Austria.". Transfusion 49 (4): 676–81. doi:10.1111/j.1537-2995.2008.02046.x. PMID 19170995. 
  • Silvy M, Simon S, Gouvitsos J et al. (2011). "Weak D and DEL alleles detected by routine SNaPshot genotyping: identification of four novel RHD alleles.". Transfusion 51 (2): 401–11. doi:10.1111/j.1537-2995.2010.02830.x. PMID 20723165. 
  • Flegel WA, von Zabern I, Doescher A et al. (2008). "DCS-1, DCS-2, and DFV share amino acid substitutions at the extracellular RhD protein vestibule.". Transfusion 48 (1): 25–33. doi:10.1111/j.1537-2995.2007.01506.x. PMID 17900276. 
  • Zhuo CS, Zhuo XF, Guo YJ, Wang CQ (2008). "[RHD gene polymorphism of RhD negative individuals in population of Fujian province].". Zhongguo Shi Yan Xue Ye Xue Za Zhi 16 (2): 435–8. PMID 18426681. 
  • Wagner FF, Flegel WA (2004). "Review: the molecular basis of the Rh blood group phenotypes.". Immunohematology 20 (1): 23–36. PMID 15373666. 
  • Callebaut I, Dulin F, Bertrand O et al. (2006). "Hydrophobic cluster analysis and modeling of the human Rh protein three-dimensional structures.". Transfus Clin Biol 13 (1-2): 70–84. doi:10.1016/j.tracli.2006.02.001. PMID 16584906. 
  • Cartron JP (1994). "Defining the Rh blood group antigens. Biochemistry and molecular genetics.". Blood Rev. 8 (4): 199–212. doi:10.1016/0268-960x(94)90108-2. PMID 7888828. 
  • Martínez H, Rodríguez-Larralde A, Izaguirre MH, De Guerra DC (2007). "Admixture estimates for Caracas, Venezuela, based on autosomal, Y-chromosome, and mtDNA markers.". Hum. Biol. 79 (2): 201–13. doi:10.1353/hub.2007.0032. PMID 18027815. 
  • Ye L, Yue D, Wo D et al. (2009). "Molecular bases of unexpressed RHD alleles in Chinese D- persons.". Transfusion 49 (8): 1655–60. doi:10.1111/j.1537-2995.2009.02181.x. PMID 19392776. 
  • Pirelli KJ, Pietz BC, Johnson ST et al. (2010). "Molecular determination of RHD zygosity: predicting risk of hemolytic disease of the fetus and newborn related to anti-D.". Prenat. Diagn. 30 (12-13): 1207–12. doi:10.1002/pd.2652. PMID 21072752. 
  • Flegr J, Novotná M, Fialová A et al. (2010). "The influence of RhD phenotype on toxoplasmosis- and age-associated changes in personality profile of blood donors.". Folia Parasitol. 57 (2): 143–50. doi:10.14411/fp.2010.018. PMID 20608477. 
  • Wang XD, Wang BL, Ye SL et al. (2009). "Non-invasive foetal RHD genotyping via real-time PCR of foetal DNA from Chinese RhD-negative maternal plasma.". Eur. J. Clin. Invest. 39 (7): 607–17. doi:10.1111/j.1365-2362.2009.02148.x. PMID 19545247. 
  • Li Z, Shao CP (2009). "Sequencing analysis of RHD intron 7 and 9.". Transfus. Apher. Sci. 40 (3): 169–73. doi:10.1016/j.transci.2009.03.004. PMID 19364677. 
  • Feller JM, Simpson AM, Nelson M et al. (2008). "Growth-promoting effect of Rh(D) antibody on human pancreatic islet cells.". J. Clin. Endocrinol. Metab. 93 (9): 3560–7. doi:10.1210/jc.2008-0510. PMID 18544617. 
  • Schmid P, von Zabern I, Scharberg EA et al. (2010). "Specific amino acid substitutions cause distinct expression of JAL (RH48) and JAHK (RH53) antigens in RhCE and not in RhD.". Transfusion 50 (1): 267–9. doi:10.1111/j.1537-2995.2009.02446.x. PMC 3482507. PMID 20233350. 
  • Liu HC, Eng HL, Yang YF et al. (2010). "Aberrant RNA splicing in RHD 7-9 exons of DEL individuals in Taiwan: a mechanism study.". Biochim. Biophys. Acta 1800 (6): 565–73. doi:10.1016/j.bbagen.2010.02.006. PMID 20188798. 
  • Mineeva NV, Elkhina EV, Bodrova NN et al. (2009). "[D antigen varieties and determination of Rhesus factor].". Klin. Lab. Diagn. (3): 17–9. PMID 19388479. 
  • Yuan S, Davis R, Lu Q et al. (2008). "Low risk of alloimmunization to the D antigen in D- orthotopic liver transplant recipients receiving D+ RBCs perioperatively.". Transfusion 48 (12): 2653–5. doi:10.1111/j.1537-2995.2008.01959.x. PMID 19055536. 
  • Avent ND, Reid ME (2000). "The Rh blood group system: a review.". Blood 95 (2): 375–87. PMID 10627438. 
  • Denomme GA, Wang D, Matheson KA, Titolo D (2009). "The proximal cis-regulatory region of the RHD/RHCE promoter is 105 bp and contains a 55-bp core devoid of known binding motifs but necessary for transcription.". Transfusion 49 (7): 1361–9. doi:10.1111/j.1537-2995.2009.02162.x. PMID 19374729.