SMS (gene)

Spermine synthase is an enzyme that in humans is encoded by the SMS gene.[4][5][6] The protein encoded by this gene belongs to the spermidine/spermine synthases family. This gene encodes a ubiquitous enzyme of polyamine metabolism.[6]

SMS
Protein SMS PDB 3C6K.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSMS, MRSR, SPMSY, SRS, SpS, spermine synthase
External IDsOMIM: 300105 MGI: 3705601 HomoloGene: 88709 GeneCards: SMS
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for SMS
Genomic location for SMS
BandXp22.11Start21,940,709 bp[1]
End21,994,837 bp[1]
RNA expression pattern
PBB GE SMS 202043 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001258423
NM_004595

XM_001473434

RefSeq (protein)

NP_001245352
NP_004586

NP_033240
NP_001346114

Location (UCSC)Chr X: 21.94 – 21.99 Mbn/a
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

Model organismsEdit

Model organisms have been used in the study of SMS function. A conditional knockout mouse line, called Smstm1a(EUCOMM)Wtsi[15][16] 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.[17][18][19]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[13][20] Twenty three tests were carried out on mutant mice and six significant abnormalities were observed.[13] Hemizygous males were infertile and thus it was not possible to produce homozygous mutant female mice. The remaining tests were therefore carried out on heterozygous mutant females and hemizygous males. Both displayed decreased grip strength while the males also had decreased body weight, length, bone mineral content and atypical peripheral blood lymphocyte counts.[13]

ReferencesEdit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000102172 - Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ Korhonen VP, Halmekyto M, Kauppinen L, Myohanen S, Wahlfors J, Keinanen T, Hyvonen T, Alhonen L, Eloranta T, Janne J (Nov 1995). "Molecular cloning of a cDNA encoding human spermine synthase". DNA Cell Biol. 14 (10): 841–7. doi:10.1089/dna.1995.14.841. PMID 7546290.CS1 maint: multiple names: authors list (link)
  5. ^ Grieff M; Whyte MP; Thakker RV; Mazzarella R (Dec 1997). "Sequence analysis of 139 kb in Xp22.1 containing spermine synthase and the 5' region of PEX". Genomics. 44 (2): 227–31. doi:10.1006/geno.1997.4876. PMID 9299240.
  6. ^ a b "Entrez Gene: SMS spermine synthase".
  7. ^ "Body weight data for Sms". Wellcome Trust Sanger Institute.
  8. ^ "Grip strength data for Sms". Wellcome Trust Sanger Institute.
  9. ^ "DEXA data for Sms". Wellcome Trust Sanger Institute.
  10. ^ "Radiography data for Sms". Wellcome Trust Sanger Institute.
  11. ^ "Clinical chemistry data for Sms". Wellcome Trust Sanger Institute.
  12. ^ "Citrobacter infection data for Sms". Wellcome Trust Sanger Institute.
  13. ^ a b c d 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.
  14. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  15. ^ "International Knockout Mouse Consortium".
  16. ^ "Mouse Genome Informatics".
  17. ^ 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.
  18. ^ Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  19. ^ 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.
  20. ^ 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 readingEdit