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词条 AMPD3
释义

  1. Model organisms

  2. References

  3. External links

  4. Further reading

{{Infobox_gene}}AMP deaminase 3 is an enzyme that in humans is encoded by the AMPD3 gene.[1][2]

This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described.[2]

Model organisms

Model organisms have been used in the study of AMPD3 function. A conditional knockout mouse line, called Ampd3tm2a(KOMP)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 eight tests were carried out on mutant mice and four significant abnormalities were observed.[6] Mutant animals had increased IgG1 levels, increased trabecular bone thickness, decreased B cell numbers / increased granulocyte number and unusual brain histopathology (the thickness of the stratum radiatum was reduced and the dorsal 3rd ventricle area was increased).[6]

A second mouse line, called Ampd3T689A, was generated by ENU mutagenesis[14]. This mouse carries a mutation which increases AMPD3 function. Mutant animals have severely reduced erythrocyte lifespan, cyclic erythropoiesis, splenomegaly, and resistance to infection with Plasmodium chabaudi.[14]

References

1. ^{{cite journal | vauthors = Mahnke-Zizelman DK, Sabina RL | title = Cloning of human AMP deaminase isoform E cDNAs. Evidence for a third AMPD gene exhibiting alternatively spliced 5'-exons | journal = The Journal of Biological Chemistry | volume = 267 | issue = 29 | pages = 20866–77 | date = October 1992 | pmid = 1400401 | pmc = | doi = }}
2. ^1 {{cite web | title = Entrez Gene: AMPD3 adenosine monophosphate deaminase (isoform E)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=272| access-date = }}
3. ^{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MANH/peripheral-blood-lymphocytes/ |title=Peripheral blood lymphocytes data for Ampd3 |publisher=Wellcome Trust Sanger Institute}}
4. ^{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MANH/salmonella-challenge/ |title=Salmonella infection data for Ampd3 |publisher=Wellcome Trust Sanger Institute}}
5. ^{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MANH/citrobacter-challenge/ |title=Citrobacter infection data for Ampd3 |publisher=Wellcome Trust Sanger Institute}}
6. ^1 2 3 {{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=Ampd3 |title=International Knockout Mouse Consortium}}
9. ^{{cite web |url=http://www.informatics.jax.org/searchtool/Search.do?query=MGI:4364610 |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 = June 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 = June 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 = January 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 | date = June 2011 | pmid = 21722353 | pmc = 3218837 | doi = 10.1186/gb-2011-12-6-224 }}
14. ^1 {{cite journal | vauthors = Hortle E, Nijagal B, Bauer DC, Jensen LM, Ahn SB, Cockburn IA, Lampkin S, Tull D, McConville MJ, McMorran BJ, Foote SJ, Burgio G | title = Adenosine monophosphate deaminase 3 activation shortens erythrocyte half-life and provides malaria resistance in mice | journal = Blood | volume = 128 | issue = 9 | pages = 1290–301 | date = September 2016 | pmid = 27465915 | pmc = 5009516 | doi = 10.1182/blood-2015-09-666834 | url = http://www.bloodjournal.org/content/128/9/1290 }}

External links

  • {{UCSC gene info|AMPD3}}

Further reading

{{refbegin | 2}}
  • {{cite journal | vauthors = Zydowo MM | title = Regulatory effects of the lipid-cytosolic enzyme interaction: AMP deaminase | journal = Acta Biochimica Polonica | volume = 40 | issue = 4 | pages = 429–32 | year = 1994 | pmid = 8140814 | doi = }}
  • {{cite journal | vauthors = Yamada Y, Goto H, Ogasawara N | title = Cloning and nucleotide sequence of the cDNA encoding human erythrocyte-specific AMP deaminase | journal = Biochimica et Biophysica Acta | volume = 1171 | issue = 1 | pages = 125–8 | date = November 1992 | pmid = 1420359 | doi = 10.1016/0167-4781(92)90153-Q }}
  • {{cite journal | vauthors = Ogasawara N, Goto H, Yamada Y, Nishigaki I, Itoh T, Hasegawa I, Park KS | title = Deficiency of AMP deaminase in erythrocytes | journal = Human Genetics | volume = 75 | issue = 1 | pages = 15–8 | date = January 1987 | pmid = 3804327 | doi = 10.1007/BF00273831 }}
  • {{cite journal | vauthors = Yamada Y, Goto H, Murase T, Ogasawara N | title = Molecular basis for human erythrocyte AMP deaminase deficiency: screening for the major point mutation and identification of other mutations | journal = Human Molecular Genetics | volume = 3 | issue = 12 | pages = 2243–5 | date = December 1994 | pmid = 7881427 | doi = 10.1093/hmg/3.12.2243 }}
  • {{cite journal | vauthors = Yamada Y, Goto H, Ogasawara N | title = A point mutation responsible for human erythrocyte AMP deaminase deficiency | journal = Human Molecular Genetics | volume = 3 | issue = 2 | pages = 331–4 | date = February 1994 | pmid = 8004104 | doi = 10.1093/hmg/3.2.331 }}
  • {{cite journal | vauthors = Mahnke-Zizelman DK, Eddy R, Shows TB, Sabina RL | title = Characterization of the human AMPD3 gene reveals that 5' exon useage is subject to transcriptional control by three tandem promoters and alternative splicing | journal = Biochimica et Biophysica Acta | volume = 1306 | issue = 1 | pages = 75–92 | date = April 1996 | pmid = 8611627 | doi = 10.1016/0167-4781(95)00231-6 }}
  • {{cite journal | vauthors = Fortuin FD, Morisaki T, Holmes EW | title = Subunit composition of AMPD varies in response to changes in AMPD1 and AMPD3 gene expression in skeletal muscle | journal = Proceedings of the Association of American Physicians | volume = 108 | issue = 4 | pages = 329–33 | date = July 1996 | pmid = 8863347 | doi = }}
  • {{cite journal | vauthors = Mahnke-Zizelman DK, D'cunha J, Wojnar JM, Brogley MA, Sabina RL | title = Regulation of rat AMP deaminase 3 (isoform C) by development and skeletal muscle fibre type | journal = The Biochemical Journal | volume = 326 ( Pt 2) | issue = 2 | pages = 521–9 | date = September 1997 | pmid = 9291127 | pmc = 1218700 | doi = }}
  • {{cite journal | vauthors = Yamada Y, Goto H, Wakamatsu N, Ogasawara N | title = A rare case of complete human erythrocyte AMP deaminase deficiency due to two novel missense mutations in AMPD3 | journal = Human Mutation | volume = 17 | issue = 1 | pages = 78 | year = 2001 | pmid = 11139257 | doi = 10.1002/1098-1004(2001)17:1<78::AID-HUMU21>3.0.CO;2-B }}
  • {{cite journal | vauthors = Mahnke-Zizelman DK, Sabina RL | title = N-terminal sequence and distal histidine residues are responsible for pH-regulated cytoplasmic membrane binding of human AMP deaminase isoform E | journal = The Journal of Biological Chemistry | volume = 277 | issue = 45 | pages = 42654–62 | date = November 2002 | pmid = 12213808 | doi = 10.1074/jbc.M203473200 }}
  • {{cite journal | vauthors = Tomikura Y, Hisatome I, Tsuboi M, Yamawaki M, Shimoyama M, Yamamoto Y, Sasaki N, Ogino K, Igawa O, Shigemasa C, Ishiguro S, Ohgi S, Nanba E, Shiota G, Morisaki H, Morisaki T, Kitakaze M | title = Coordinate induction of AMP deaminase in human atrium with mitochondrial DNA deletion | journal = Biochemical and Biophysical Research Communications | volume = 302 | issue = 2 | pages = 372–6 | date = March 2003 | pmid = 12604357 | doi = 10.1016/S0006-291X(03)00160-8 }}
  • {{cite journal | vauthors = Mahnke DK, Sabina RL | title = Calcium activates erythrocyte AMP deaminase [isoform E (AMPD3)] through a protein-protein interaction between calmodulin and the N-terminal domain of the AMPD3 polypeptide | journal = Biochemistry | volume = 44 | issue = 14 | pages = 5551–9 | date = April 2005 | pmid = 15807549 | doi = 10.1021/bi048121p }}
  • {{cite journal | vauthors = Sabina RL, Waldenström A, Ronquist G | title = The contribution of Ca+ calmodulin activation of human erythrocyte AMP deaminase (isoform E) to the erythrocyte metabolic dysregulation of familial phosphofructokinase deficiency | journal = Haematologica | volume = 91 | issue = 5 | pages = 652–5 | date = May 2006 | pmid = 16670071 | doi = }}
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1 : Genes mutated in mice
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