RHD (gene)

RHD
Identifiers
Aliases RHD, CD240D, DIIIc, RH, RH30, RHCED, RHDVA(TT), RHDel, RHPII, RHXIII, Rh4, RhDCw, RhII, RhK562-II, RhPI, Rh blood group D antigen
External IDs MGI: 1202882 HomoloGene: 7918 GeneCards: RHD
Orthologs
Species Human Mouse
Entrez

6007

19746

Ensembl

ENSG00000187010

ENSMUSG00000028825

UniProt

Q02161

Q8CF94

RefSeq (mRNA)

NM_011270

RefSeq (protein)

NP_001121163.1
NP_001269797.1
NP_001269798.1
NP_001269800.1
NP_057208.2

NP_035400.3

Location (UCSC) Chr 1: 25.27 – 25.33 Mb Chr 4: 134.86 – 134.9 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

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.[3]

The RHD gene codes for the RhD erythrocyte membrane protein that is the Rh factor antigen of the Rh blood group system.[4] 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.[5] 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

Model organisms have been used in the study of RHD function. A conditional knockout mouse line, called Rhdtm1a(EUCOMM)Wtsi[10][11] 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.[12][13][14]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[8][15] 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.[8]

References

  1. ↑ "Human PubMed Reference:".
  2. ↑ "Mouse PubMed Reference:".
  3. ↑ "Entrez Gene: Rh blood group".
  4. ↑ Westhoff CM (Jan 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 1831834Freely accessible. PMID 17198846.
  5. ↑ Gruswitz F, Chaudhary S, Ho JD, Schlessinger A, Pezeshki B, Ho CM, Sali A, Westhoff CM, Stroud RM (May 2010). "Function of human Rh based on structure of RhCG at 2.1 A". Proceedings of the National Academy of Sciences of the United States of America. 107 (21): 9638–43. doi:10.1073/pnas.1003587107. PMC 2906887Freely accessible. PMID 20457942.
  6. ↑ "Salmonella infection data for Rhd". Wellcome Trust Sanger Institute.
  7. ↑ "Citrobacter infection data for Rhd". Wellcome Trust Sanger Institute.
  8. 1 2 3 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.
  9. ↑ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  10. ↑ "International Knockout Mouse Consortium".
  11. ↑ "Mouse Genome Informatics".
  12. ↑ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410Freely accessible. PMID 21677750.
  13. ↑ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  14. ↑ Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
  15. ↑ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837Freely accessible. PMID 21722353.

Further reading

  • Polin H, Danzer M, Gaszner W, Broda D, St-Louis M, Pröll J, Hofer K, Gabriel C (Apr 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, Di Cristofaro J, Ferrera V, Chiaroni J, Bailly P (Feb 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, Wagner FF, Vytisková J, Písacka M (Jan 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 (Apr 2008). "[RHD gene polymorphism of RhD negative individuals in population of Fujian province]". Zhongguo Shi Yan Xue Ye Xue Za Zhi / Zhongguo Bing Li Sheng Li Xue Hui = Journal of Experimental Hematology / Chinese Association of Pathophysiology. 16 (2): 435–8. PMID 18426681. 
  • Wagner FF, Flegel WA (2004). "Review: the molecular basis of the Rh blood group phenotypes". Immunohematology / American Red Cross. 20 (1): 23–36. PMID 15373666. 
  • Callebaut I, Dulin F, Bertrand O, Ripoche P, Mouro I, Colin Y, Mornon JP, Cartron JP (2006). "Hydrophobic cluster analysis and modeling of the human Rh protein three-dimensional structures". Transfusion Clinique Et Biologique. 13 (1-2): 70–84. doi:10.1016/j.tracli.2006.02.001. PMID 16584906. 
  • Cartron JP (Dec 1994). "Defining the Rh blood group antigens. Biochemistry and molecular genetics". Blood Reviews. 8 (4): 199–212. doi:10.1016/0268-960x(94)90108-2. PMID 7888828. 
  • Martínez H, Rodríguez-Larralde A, Izaguirre MH, De Guerra DC (Apr 2007). "Admixture estimates for Caracas, Venezuela, based on autosomal, Y-chromosome, and mtDNA markers". Human Biology. 79 (2): 201–13. doi:10.1353/hub.2007.0032. PMID 18027815. 
  • Ye L, Yue D, Wo D, Ding X, Guo S, Li Q, Guo Z, Zhu Z (Aug 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, Pinder HL, Bellissimo DB (Dec 2010). "Molecular determination of RHD zygosity: predicting risk of hemolytic disease of the fetus and newborn related to anti-D". Prenatal Diagnosis. 30 (12-13): 1207–12. doi:10.1002/pd.2652. PMID 21072752. 
  • Flegr J, Novotná M, Fialová A, Kolbeková P, Gasová Z (Jun 2010). "The influence of RhD phenotype on toxoplasmosis- and age-associated changes in personality profile of blood donors". Folia Parasitologica. 57 (2): 143–50. doi:10.14411/fp.2010.018. PMID 20608477. 
  • Wang XD, Wang BL, Ye SL, Liao YQ, Wang LF, He ZM (Jul 2009). "Non-invasive foetal RHD genotyping via real-time PCR of foetal DNA from Chinese RhD-negative maternal plasma". European Journal of Clinical Investigation. 39 (7): 607–17. doi:10.1111/j.1365-2362.2009.02148.x. PMID 19545247. 
  • Li Z, Shao CP (Jun 2009). "Sequencing analysis of RHD intron 7 and 9". Transfusion and Apheresis Science. 40 (3): 169–73. doi:10.1016/j.transci.2009.03.004. PMID 19364677. 
  • Feller JM, Simpson AM, Nelson M, Swan MA, O'Connell PJ, Hawthorne WJ, Tao C, O'Brien BA (Sep 2008). "Growth-promoting effect of Rh(D) antibody on human pancreatic islet cells". The Journal of Clinical Endocrinology and Metabolism. 93 (9): 3560–7. doi:10.1210/jc.2008-0510. PMID 18544617. 
  • Schmid P, von Zabern I, Scharberg EA, Wagner FF, Flegel WA (Jan 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 3482507Freely accessible. PMID 20233350. 
  • Liu HC, Eng HL, Yang YF, Wang YH, Lin KT, Wu HL, Lin TM (Jun 2010). "Aberrant RNA splicing in RHD 7-9 exons of DEL individuals in Taiwan: a mechanism study". Biochimica et Biophysica Acta. 1800 (6): 565–73. doi:10.1016/j.bbagen.2010.02.006. PMID 20188798. 
  • Mineeva NV, Elkhina EV, Bodrova NN, Zavarzina OA, Priezzheva LS, Poedinenko IV (Mar 2009). "[D antigen varieties and determination of Rhesus factor]". Klinicheskaia Laboratornaia Diagnostika (3): 17–9. PMID 19388479. 
  • Yuan S, Davis R, Lu Q, Goldfinger D, Ziman AF (Dec 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 (Jan 2000). "The Rh blood group system: a review". Blood. 95 (2): 375–87. PMID 10627438. 
  • Denomme GA, Wang D, Matheson KA, Titolo D (Jul 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. 
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