请输入您要查询的百科知识：

　

词条 RHD (gene)
释义

  1. Model organisms

  2. References

  3. Further reading

  4. See also

{{Infobox_gene}}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 {{SWL|target=hemolytic anemia|type=decrease_associated_with_disease}}. 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[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 hemoglobin.[6]

{{Clear}}

References

1. ^{{cite web | title = Entrez Gene: Rh blood group| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6007| accessdate = }}
2. ^{{cite journal | vauthors = Westhoff CM | title = The structure and function of the Rh antigen complex | journal = Seminars in Hematology | volume = 44 | issue = 1 | pages = 42–50 | date = Jan 2007 | pmid = 17198846 | pmc = 1831834 | doi = 10.1053/j.seminhematol.2006.09.010 }}
3. ^{{cite journal | vauthors = Gruswitz F, Chaudhary S, Ho JD, Schlessinger A, Pezeshki B, Ho CM, Sali A, Westhoff CM, Stroud RM | title = Function of human Rh based on structure of RhCG at 2.1 A | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 107 | issue = 21 | pages = 9638–43 | date = May 2010 | pmid = 20457942 | pmc = 2906887 | doi = 10.1073/pnas.1003587107 }}
4. ^{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MAQR/salmonella-challenge/ |title=Salmonella infection data for Rhd |publisher=Wellcome Trust Sanger Institute}}
5. ^{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MAQR/citrobacter-challenge/ |title=Citrobacter infection data for Rhd |publisher=Wellcome Trust Sanger Institute}}
6. ^1 2 {{cite journal | doi = 10.1111/j.1755-3768.2010.4142.x | title = The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice | year = 2010 | author = Gerdin AK | journal = Acta Ophthalmologica | volume = 88 | pages = 925–7 }}
7. ^Mouse Resources Portal, Wellcome Trust Sanger Institute.
8. ^{{cite web |url=http://www.knockoutmouse.org/martsearch/search?query=Rhd |title=International Knockout Mouse Consortium}}
9. ^{{cite web |url=http://www.informatics.jax.org/searchtool/Search.do?query=MGI:4431572 |title=Mouse Genome Informatics}}
10. ^{{cite journal | vauthors = 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 | title = A conditional knockout resource for the genome-wide study of mouse gene function | journal = Nature | volume = 474 | issue = 7351 | pages = 337–42 | date = Jun 2011 | pmid = 21677750 | pmc = 3572410 | doi = 10.1038/nature10163 }}
11. ^{{cite journal | vauthors = Dolgin E | title = Mouse library set to be knockout | journal = Nature | volume = 474 | issue = 7351 | pages = 262–3 | date = Jun 2011 | pmid = 21677718 | doi = 10.1038/474262a }}
12. ^{{cite journal | vauthors = Collins FS, Rossant J, Wurst W | title = A mouse for all reasons | journal = Cell | volume = 128 | issue = 1 | pages = 9–13 | date = Jan 2007 | pmid = 17218247 | doi = 10.1016/j.cell.2006.12.018 }}
13. ^{{cite journal | vauthors = van der Weyden L, White JK, Adams DJ, Logan DW | title = The mouse genetics toolkit: revealing function and mechanism | journal = Genome Biology | volume = 12 | issue = 6 | pages = 224 | year = 2011 | pmid = 21722353 | pmc = 3218837 | doi = 10.1186/gb-2011-12-6-224 }}

Further reading

{{refbegin|33em}}
  • {{cite journal | vauthors = Polin H, Danzer M, Gaszner W, Broda D, St-Louis M, Pröll J, Hofer K, Gabriel C | title = Identification of RHD alleles with the potential of anti-D immunization among seemingly D- blood donors in Upper Austria | journal = Transfusion | volume = 49 | issue = 4 | pages = 676–81 | date = Apr 2009 | pmid = 19170995 | doi = 10.1111/j.1537-2995.2008.02046.x }}
  • {{cite journal | vauthors = Silvy M, Simon S, Gouvitsos J, Di Cristofaro J, Ferrera V, Chiaroni J, Bailly P | title = Weak D and DEL alleles detected by routine SNaPshot genotyping: identification of four novel RHD alleles | journal = Transfusion | volume = 51 | issue = 2 | pages = 401–11 | date = Feb 2011 | pmid = 20723165 | doi = 10.1111/j.1537-2995.2010.02830.x }}
  • {{cite journal | vauthors = Flegel WA, von Zabern I, Doescher A, Wagner FF, Vytisková J, Písacka M | title = DCS-1, DCS-2, and DFV share amino acid substitutions at the extracellular RhD protein vestibule | journal = Transfusion | volume = 48 | issue = 1 | pages = 25–33 | date = Jan 2008 | pmid = 17900276 | doi = 10.1111/j.1537-2995.2007.01506.x }}
  • {{cite journal | vauthors = Zhuo CS, Zhuo XF, Guo YJ, Wang CQ | title = [RHD gene polymorphism of RhD negative individuals in population of Fujian province] | journal = Zhongguo Shi Yan Xue Ye Xue Za Zhi / Zhongguo Bing Li Sheng Li Xue Hui = Journal of Experimental Hematology / Chinese Association of Pathophysiology | volume = 16 | issue = 2 | pages = 435–8 | date = Apr 2008 | pmid = 18426681 | doi = }}
  • {{cite journal | vauthors = Wagner FF, Flegel WA | title = Review: the molecular basis of the Rh blood group phenotypes | journal = Immunohematology / American Red Cross | volume = 20 | issue = 1 | pages = 23–36 | year = 2004 | pmid = 15373666 | doi = }}
  • {{cite journal | vauthors = Callebaut I, Dulin F, Bertrand O, Ripoche P, Mouro I, Colin Y, Mornon JP, Cartron JP | title = Hydrophobic cluster analysis and modeling of the human Rh protein three-dimensional structures | journal = Transfusion Clinique et Biologique | volume = 13 | issue = 1–2 | pages = 70–84 | year = 2006 | pmid = 16584906 | doi = 10.1016/j.tracli.2006.02.001 }}
  • {{cite journal | vauthors = Cartron JP | title = Defining the Rh blood group antigens. Biochemistry and molecular genetics | journal = Blood Reviews | volume = 8 | issue = 4 | pages = 199–212 | date = Dec 1994 | pmid = 7888828 | doi = 10.1016/0268-960x(94)90108-2 }}
  • {{cite journal | vauthors = Martínez H, Rodríguez-Larralde A, Izaguirre MH, De Guerra DC | title = Admixture estimates for Caracas, Venezuela, based on autosomal, Y-chromosome, and mtDNA markers | journal = Human Biology | volume = 79 | issue = 2 | pages = 201–13 | date = Apr 2007 | pmid = 18027815 | doi = 10.1353/hub.2007.0032 }}
  • {{cite journal | vauthors = Ye L, Yue D, Wo D, Ding X, Guo S, Li Q, Guo Z, Zhu Z | title = Molecular bases of unexpressed RHD alleles in Chinese D- persons | journal = Transfusion | volume = 49 | issue = 8 | pages = 1655–60 | date = Aug 2009 | pmid = 19392776 | doi = 10.1111/j.1537-2995.2009.02181.x }}
  • {{cite journal | vauthors = Pirelli KJ, Pietz BC, Johnson ST, Pinder HL, Bellissimo DB | title = Molecular determination of RHD zygosity: predicting risk of hemolytic disease of the fetus and newborn related to anti-D | journal = Prenatal Diagnosis | volume = 30 | issue = 12–13 | pages = 1207–12 | date = Dec 2010 | pmid = 21072752 | doi = 10.1002/pd.2652 }}
  • {{cite journal | vauthors = Flegr J, Novotná M, Fialová A, Kolbeková P, Gasová Z | title = The influence of RhD phenotype on toxoplasmosis- and age-associated changes in personality profile of blood donors | journal = Folia Parasitologica | volume = 57 | issue = 2 | pages = 143–50 | date = Jun 2010 | pmid = 20608477 | doi = 10.14411/fp.2010.018 }}
  • {{cite journal | vauthors = Wang XD, Wang BL, Ye SL, Liao YQ, Wang LF, He ZM | title = Non-invasive foetal RHD genotyping via real-time PCR of foetal DNA from Chinese RhD-negative maternal plasma | journal = European Journal of Clinical Investigation | volume = 39 | issue = 7 | pages = 607–17 | date = Jul 2009 | pmid = 19545247 | doi = 10.1111/j.1365-2362.2009.02148.x }}
  • {{cite journal | vauthors = Li Z, Shao CP | title = Sequencing analysis of RHD intron 7 and 9 | journal = Transfusion and Apheresis Science | volume = 40 | issue = 3 | pages = 169–73 | date = Jun 2009 | pmid = 19364677 | doi = 10.1016/j.transci.2009.03.004 }}
  • {{cite journal | vauthors = Feller JM, Simpson AM, Nelson M, Swan MA, O'Connell PJ, Hawthorne WJ, Tao C, O'Brien BA | title = Growth-promoting effect of Rh(D) antibody on human pancreatic islet cells | journal = The Journal of Clinical Endocrinology and Metabolism | volume = 93 | issue = 9 | pages = 3560–7 | date = Sep 2008 | pmid = 18544617 | doi = 10.1210/jc.2008-0510 }}
  • {{cite journal | vauthors = Schmid P, von Zabern I, Scharberg EA, Wagner FF, Flegel WA | title = Specific amino acid substitutions cause distinct expression of JAL (RH48) and JAHK (RH53) antigens in RhCE and not in RhD | journal = Transfusion | volume = 50 | issue = 1 | pages = 267–9 | date = Jan 2010 | pmid = 20233350 | pmc = 3482507 | doi = 10.1111/j.1537-2995.2009.02446.x }}
  • {{cite journal | vauthors = Liu HC, Eng HL, Yang YF, Wang YH, Lin KT, Wu HL, Lin TM | title = Aberrant RNA splicing in RHD 7-9 exons of DEL individuals in Taiwan: a mechanism study | journal = Biochimica et Biophysica Acta | volume = 1800 | issue = 6 | pages = 565–73 | date = Jun 2010 | pmid = 20188798 | doi = 10.1016/j.bbagen.2010.02.006 }}
  • {{cite journal | vauthors = Mineeva NV, Elkhina EV, Bodrova NN, Zavarzina OA, Priezzheva LS, Poedinenko IV | title = [D antigen varieties and determination of Rhesus factor] | journal = Klinicheskaia Laboratornaia Diagnostika | volume = | issue = 3 | pages = 17–9 | date = Mar 2009 | pmid = 19388479 | doi = }}
  • {{cite journal | vauthors = Yuan S, Davis R, Lu Q, Goldfinger D, Ziman AF | title = Low risk of alloimmunization to the D antigen in D- orthotopic liver transplant recipients receiving D+ RBCs perioperatively | journal = Transfusion | volume = 48 | issue = 12 | pages = 2653–5 | date = Dec 2008 | pmid = 19055536 | doi = 10.1111/j.1537-2995.2008.01959.x }}
  • {{cite journal | vauthors = Avent ND, Reid ME | title = The Rh blood group system: a review | journal = Blood | volume = 95 | issue = 2 | pages = 375–87 | date = Jan 2000 | pmid = 10627438 | doi = }}
  • {{cite journal | vauthors = Denomme GA, Wang D, Matheson KA, Titolo D | title = 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 | journal = Transfusion | volume = 49 | issue = 7 | pages = 1361–9 | date = Jul 2009 | pmid = 19374729 | doi = 10.1111/j.1537-2995.2009.02162.x }}
{{refend}}

See also

  • ABO (gene)
{{Clusters of differentiation}}

3 : Clusters of differentiation|Membrane proteins|Genes mutated in mice
随便看

　

开放百科全书收录14589846条英语、德语、日语等多语种百科知识，基本涵盖了大多数领域的百科知识，是一部内容自由、开放的电子版国际百科全书。

　

Copyright © 2023 OENC.NET All Rights Reserved
京ICP备2021023879号 更新时间：2024/11/13 21:55:51