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
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3C6K, 3C6M
Identifiers
Aliases	SMS, MRSR, SPMSY, SRS, SpS, spermine synthase
External IDs	OMIM: 300105 MGI: 3705601 HomoloGene: 88709 GeneCards: SMS
Gene location (Human) Chr. X chromosome (human)[1] Band Xp22.11 Start 21,940,709 bp[1] End 21,994,837 bp[1]
RNA expression pattern More reference expression data
Gene ontology Molecular function • transferase activity • spermine synthase activity Cellular component • cytosol • extracellular exosome Biological process • spermine biosynthetic process • spermine metabolic process • polyamine biosynthetic process • methionine metabolic process • polyamine metabolic process Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	6611	671878
Ensembl	ENSG00000102172	n/a
UniProt	P52788	P97355
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 Mb	n/a
PubMed search	[2]	[3]
Wikidata
View/Edit Human View/Edit Mouse

Model organisms

Sms knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Normal
Fertility	Abnormal
Body weight	Abnormal[7]
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Abnormal[8]
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Abnormal[9]
Radiography	Abnormal[10]
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal[11]
Haematology	Normal
Peripheral blood lymphocytes	Abnormal
Micronucleus test	Normal
Heart weight	Normal
Skin Histopathology	Normal
Eye Histopathology	Normal
Citrobacter infection	Normal[12]
All tests and analysis from[13][14]

Model organisms have been used in the study of SMS function. A conditional knockout mouse line, called Sms^{tm1a(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]

References

1. 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. "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. 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 reading

• Snyder RD; Robinson A (1969). "Recessive sex-linked mental retardation in the absence of other recognizable abnormalities. Report of a family". Clinical Pediatrics. 8 (11): 669–74. doi:10.1177/000992286900801114. PMID 5823961.
• Arena JF, Schwartz C, Ouzts L, et al. (1996). "X-linked mental retardation with thin habitus, osteoporosis, and kyphoscoliosis: linkage to Xp21.3-p22.12". Am. J. Med. Genet. 64 (1): 50–8. doi:10.1002/(SICI)1096-8628(19960712)64:1<50::AID-AJMG7>3.0.CO;2-V. PMID 8826448.
• Sanger Centre, The; Washington University Genome Sequencing Cente, The (1999). "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. doi:10.1101/gr.8.11.1097. PMID 9847074.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Gevaert K, Goethals M, Martens L, et al. (2004). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nat. Biotechnol. 21 (5): 566–9. doi:10.1038/nbt810. PMID 12665801.
• Cason AL, Ikeguchi Y, Skinner C, et al. (2004). "X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome". Eur. J. Hum. Genet. 11 (12): 937–44. doi:10.1038/sj.ejhg.5201072. PMID 14508504.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Rush J, Moritz A, Lee KA, et al. (2005). "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells". Nat. Biotechnol. 23 (1): 94–101. doi:10.1038/nbt1046. PMID 15592455.
• Ross MT, Grafham DV, Coffey AJ, et al. (2005). "The DNA sequence of the human X chromosome". Nature. 434 (7031): 325–37. doi:10.1038/nature03440. PMC 2665286. PMID 15772651.