SETMAR

From Wikipedia, the free encyclopedia
SET domain and mariner transposase fusion gene

Rendering based on PDB 3BO5.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
SymbolsSETMAR; HsMar1; METNASE; Mar1
External IDsOMIM: 609834 MGI: 1921979 HomoloGene: 121979 GeneCards: SETMAR Gene
EC number2.1.1.43
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez641974729
EnsemblENSG00000170364ENSMUSG00000034639
UniProtQ53H47Q80UJ9
RefSeq (mRNA)NM_001243723XM_001001353
RefSeq (protein)NP_001230652XP_001001353
Location (UCSC)Chr 3:
4.34 – 4.36 Mb
Chr 6:
108.03 – 108.04 Mb
PubMed search

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

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]

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". 
  3. "Eye morphology data for Setmar". Wellcome Trust Sanger Institute. 
  4. "Peripheral blood lymphocytes data for Setmar". Wellcome Trust Sanger Institute. 
  5. "Salmonella infection data for Setmar". Wellcome Trust Sanger Institute. 
  6. "Citrobacter infection data for Setmar". Wellcome Trust Sanger Institute. 
  7. 7.0 7.1 7.2 7.3 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. 
  8. Mouse Resources Portal, Wellcome Trust Sanger Institute.
  9. "International Knockout Mouse Consortium". 
  10. "Mouse Genome Informatics". 
  11. 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. 
  12. Dolgin, Elie (2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  13. International Mouse Knockout Consortium; 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. 
  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. PMC 3218837. PMID 21722353. 

Further reading


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