SMS (gene)
| Spermine synthase | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | SMS ; MRSR; SPMSY; SRS; SpS | ||||||||||||
| External IDs | OMIM: 300105 MGI: 109490 HomoloGene: 88709 ChEMBL: 4934 GeneCards: SMS Gene | ||||||||||||
| EC number | 2.5.1.22 | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 6611 | 20603 | |||||||||||
| Ensembl | ENSG00000102172 | ENSMUSG00000071708 | |||||||||||
| UniProt | P52788 | P97355 | |||||||||||
| RefSeq (mRNA) | NM_001258423 | NM_009214 | |||||||||||
| RefSeq (protein) | NP_001245352 | NP_033240 | |||||||||||
| Location (UCSC) |
Chr X: 21.94 – 21.99 Mb |
Chr X: 157.44 – 157.49 Mb | |||||||||||
| PubMed search | |||||||||||||
Spermine synthase is an enzyme that in humans is encoded by the SMS gene.[1][2][3] The protein encoded by this gene belongs to the spermidine/spermine synthases family. This gene encodes a ubiquitous enzyme of polyamine metabolism.[3]
Model organisms
| Characteristic | Phenotype |
|---|---|
| Homozygote viability | Normal |
| Fertility | Abnormal |
| Body weight | Abnormal[4] |
| Anxiety | Normal |
| Neurological assessment | Normal |
| Grip strength | Abnormal[5] |
| Hot plate | Normal |
| Dysmorphology | Normal |
| Indirect calorimetry | Normal |
| Glucose tolerance test | Normal |
| Auditory brainstem response | Normal |
| DEXA | Abnormal[6] |
| Radiography | Abnormal[7] |
| Body temperature | Normal |
| Eye morphology | Normal |
| Clinical chemistry | Normal[8] |
| Haematology | Normal |
| Peripheral blood lymphocytes | Abnormal |
| Micronucleus test | Normal |
| Heart weight | Normal |
| Skin Histopathology | Normal |
| Eye Histopathology | Normal |
| Citrobacter infection | Normal[9] |
| All tests and analysis from[10][11] |
Model organisms have been used in the study of SMS function. A conditional knockout mouse line, called Smstm1a(EUCOMM)Wtsi[12][13] 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.[14][15][16]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[10][17] Twenty three tests were carried out on mutant mice and six significant abnormalities were observed.[10] 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.[10]
References
- ↑ 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.
- ↑ 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.
- 1 2 "Entrez Gene: SMS spermine synthase".
- ↑ "Body weight data for Sms". Wellcome Trust Sanger Institute.
- ↑ "Grip strength data for Sms". Wellcome Trust Sanger Institute.
- ↑ "DEXA data for Sms". Wellcome Trust Sanger Institute.
- ↑ "Radiography data for Sms". Wellcome Trust Sanger Institute.
- ↑ "Clinical chemistry data for Sms". Wellcome Trust Sanger Institute.
- ↑ "Citrobacter infection data for Sms". Wellcome Trust Sanger Institute.
- 1 2 3 4 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.
- ↑ Mouse Resources Portal, Wellcome Trust Sanger Institute.
- ↑ "International Knockout Mouse Consortium".
- ↑ "Mouse Genome Informatics".
- ↑ 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.
- ↑ Dolgin E (2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
- ↑ 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.
- ↑ 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.
- "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. 1999. 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.
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