SETMAR

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SET domain and mariner transposase fusion gene

Rendering based on PDB 3BO5.
Identifiers
Symbols SETMAR; METNASE
External IDs OMIM609834 MGI1921979 HomoloGene121979 GeneCards: SETMAR Gene
EC number 2.1.1.43
RNA expression pattern
PBB GE SETMAR 206554 x at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 6419 74729
Ensembl ENSG00000170364 ENSMUSG00000034639
UniProt Q53H47 Q80UJ9
RefSeq (mRNA) NM_006515.3 XM_001001353
RefSeq (protein) NP_006506 XP_001001353
Location (UCSC) Chr 3:
4.34 – 4.36 Mb
Chr 6:
108.03 – 108.04 Mb
PubMed search [1] [2]

Histone-lysine N-methyltransferase SETMAR is an enzyme that in humans is encoded by the SETMAR gene.[1][2]


[edit] Model organisms

Model organisms have been used in the study of SETMAR function. A conditional knockout mouse line, called Setmartm1a(EUCOMM)Wtsi[9][10] 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.[11][12][13]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[7][14] Twenty five tests were carried out on mutant mice and two significant abnormalities were observed.[7] Homozygous mutant animals of both sex had abnormal retinal pigmentation and morphology, while males also had atypical peripheral blood lymphocyte parameters.[7]

[edit] References

  1. ^ Robertson HM, Zumpano KL (Feb 1998). "Molecular evolution of an ancient mariner transposon, Hsmar1, in the human genome". Gene 205 (1-2): 203–17. doi:10.1016/S0378-1119(97)00472-1. PMID 9461395. 
  2. ^ "Entrez Gene: SETMAR SET domain and mariner transposase fusion gene". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6419. 
  3. ^ "Eye morphology data for Setmar". Wellcome Trust Sanger Institute. http://www.sanger.ac.uk/mouseportal/phenotyping/MAVM/eye-morphology/. 
  4. ^ "Peripheral blood lymphocytes data for Setmar". Wellcome Trust Sanger Institute. http://www.sanger.ac.uk/mouseportal/phenotyping/MAVM/peripheral-blood-lymphocytes/. 
  5. ^ "Salmonella infection data for Setmar". Wellcome Trust Sanger Institute. http://www.sanger.ac.uk/mouseportal/phenotyping/MAVM/salmonella-challenge/. 
  6. ^ "Citrobacter infection data for Setmar". Wellcome Trust Sanger Institute. http://www.sanger.ac.uk/mouseportal/phenotyping/MAVM/citrobacter-challenge/. 
  7. ^ a b c d Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Opthalmologica 88: 925-7.doi:10.1111/j.1755-3768.2010.4142.x: Wiley. http://onlinelibrary.wiley.com/doi/10.1111/j.1755-3768.2010.4142.x/abstract. 
  8. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  9. ^ "International Knockout Mouse Consortium". http://www.knockoutmouse.org/martsearch/search?query=Setmar. 
  10. ^ "Mouse Genome Informatics". http://www.informatics.jax.org/searchtool/Search.do?query=MGI:4432061. 
  11. ^ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M. et al (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–342. doi:10.1038/nature10163. PMID 21677750.  edit
  12. ^ Dolgin E (June 2011). "Mouse library set to be knockout". Nature 474: 262-263. doi:10.1038/474262a. http://www.nature.com/news/2011/110615/full/474262a.html. 
  13. ^ Collins FS, Rossant J, Wurst W (January 2007). A mouse for all reasons. Cell 128(1): 9-13. doi:10.1016/j.cell.2006.12.018 PMID 17218247. 
  14. ^ 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. PMID 21722353. http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21722353. 

[edit] Further reading


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