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词条 SMS (gene)
释义

  1. Model organisms

  2. References

  3. Further reading

{{Infobox_gene}}Spermine synthase is an enzyme that in humans is encoded by the SMS gene.[1][2][3]{{PBB_Summary
| section_title =
| summary_text = 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

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

1. ^{{cite journal | author = Korhonen VP, Halmekyto M, Kauppinen L, Myohanen S, Wahlfors J, Keinanen T, Hyvonen T, Alhonen L, Eloranta T, Janne J | title = Molecular cloning of a cDNA encoding human spermine synthase | journal = DNA Cell Biol | volume = 14 | issue = 10 | pages = 841–7 |date=Nov 1995 | pmid = 7546290 | pmc = | doi =10.1089/dna.1995.14.841 | last4 = Myöhänen }}
2. ^{{cite journal |author1=Grieff M |author2=Whyte MP |author3=Thakker RV |author4=Mazzarella R | title = Sequence analysis of 139 kb in Xp22.1 containing spermine synthase and the 5' region of PEX | journal = Genomics | volume = 44 | issue = 2 | pages = 227–31 |date=Dec 1997 | pmid = 9299240 | pmc = | doi = 10.1006/geno.1997.4876 }}
3. ^1 {{cite web | title = Entrez Gene: SMS spermine synthase| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6611| accessdate = }}
4. ^{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBCD/weight-curves/ |title=Body weight data for Sms |publisher=Wellcome Trust Sanger Institute}}
5. ^{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBCD/grip-strength/ |title=Grip strength data for Sms |publisher=Wellcome Trust Sanger Institute}}
6. ^{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBCD/body-composition-dexa/ |title=DEXA data for Sms |publisher=Wellcome Trust Sanger Institute}}
7. ^{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBCD/x-ray-imaging/ |title=Radiography data for Sms |publisher=Wellcome Trust Sanger Institute}}
8. ^{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBCD/plasma-chemistry/ |title=Clinical chemistry data for Sms |publisher=Wellcome Trust Sanger Institute}}
9. ^{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBCD/citrobacter-challenge/ |title=Citrobacter infection data for Sms |publisher=Wellcome Trust Sanger Institute}}
10. ^1 2 3 {{cite journal | doi = 10.1111/j.1755-3768.2010.4142.x | title = The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice | year = 2010 | author = Gerdin AK | journal = Acta Ophthalmologica | volume = 88 | pages = 925–7 }}
11. ^Mouse Resources Portal, Wellcome Trust Sanger Institute.
12. ^{{cite web |url=http://www.knockoutmouse.org/martsearch/search?query=Sms |title=International Knockout Mouse Consortium}}
13. ^{{cite web |url=http://www.informatics.jax.org/searchtool/Search.do?query=MGI:4431547 |title=Mouse Genome Informatics}}
14. ^{{Cite journal| last1 = Skarnes |first1 =W. C.| doi = 10.1038/nature10163 | last2 = Rosen | first2 = B.| last3 = West | first3 = A. P.| last4 = Koutsourakis | first4 = M.| last5 = Bushell | first5 = W.| last6 = Iyer | first6 = V.| last7 = Mujica | first7 = A. O.| last8 = Thomas | first8 = M.| last9 = Harrow | first9 = J.| last10 = Cox | first10 = T.| last11 = Jackson | first11 = D.| last12 = Severin | first12 = J.| last13 = Biggs | first13 = P.| last14 = Fu | first14 = J.| last15 = Nefedov | first15 = M.| last16 = De Jong | first16 = P. J.| last17 = Stewart | first17 = A. F.| last18 = Bradley | first18 = A. | title = A conditional knockout resource for the genome-wide study of mouse gene function | journal = Nature | volume = 474 | issue = 7351 | pages = 337–342 | year = 2011 | pmid = 21677750 | pmc =3572410 }}
15. ^{{cite journal | doi = 10.1038/474262a | title = Mouse library set to be knockout | year = 2011 | author = Dolgin E | journal = Nature | volume = 474 | issue = 7351 | pages = 262–3 | pmid = 21677718 }}
16. ^{{cite journal | doi = 10.1016/j.cell.2006.12.018 | title = A Mouse for All Reasons | year = 2007 | journal = Cell | volume = 128 | pages = 9–13 | pmid = 17218247 |author1=Collins FS |author2=Rossant J |author3=Wurst W | issue = 1 }}
17. ^{{cite journal|author1=van der Weyden L |author2=White JK |author3=Adams DJ |author4=Logan DW | title=The mouse genetics toolkit: revealing function and mechanism | journal=Genome Biol | year= 2011 | volume= 12 | issue= 6 | pages= 224 | pmid=21722353 | doi=10.1186/gb-2011-12-6-224 | pmc=3218837}}

Further reading

{{refbegin | 2}}
  • {{cite journal |author1=Snyder RD |author2=Robinson A |title=Recessive sex-linked mental retardation in the absence of other recognizable abnormalities. Report of a family |journal=Clinical Pediatrics |volume=8 |issue= 11 |pages= 669–74 |year= 1969 |pmid= 5823961 |doi=10.1177/000992286900801114 }}
  • {{cite journal |vauthors=Arena JF, Schwartz C, Ouzts L, etal |title=X-linked mental retardation with thin habitus, osteoporosis, and kyphoscoliosis: linkage to Xp21.3-p22.12 |journal=Am. J. Med. Genet. |volume=64 |issue= 1 |pages= 50–8 |year= 1996 |pmid= 8826448 |doi= 10.1002/(SICI)1096-8628(19960712)64:1<50::AID-AJMG7>3.0.CO;2-V }}
  • {{cite journal |title=Toward a complete human genome sequence |journal=Genome Res. |volume=8 |issue= 11 |pages= 1097–108 |year= 1999 |pmid= 9847074 |doi= 10.1101/gr.8.11.1097|last1=Sanger Centre |first1=The |last2=Washington University Genome Sequencing Cente |first2=The }}
  • {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
  • {{cite journal |vauthors=Gevaert K, Goethals M, Martens L, etal |title=Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides |journal=Nat. Biotechnol. |volume=21 |issue= 5 |pages= 566–9 |year= 2004 |pmid= 12665801 |doi= 10.1038/nbt810 }}
  • {{cite journal |vauthors=Cason AL, Ikeguchi Y, Skinner C, etal |title=X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome |journal=Eur. J. Hum. Genet. |volume=11 |issue= 12 |pages= 937–44 |year= 2004 |pmid= 14508504 |doi= 10.1038/sj.ejhg.5201072 }}
  • {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
  • {{cite journal |vauthors=Rush J, Moritz A, Lee KA, etal |title=Immunoaffinity profiling of tyrosine phosphorylation in cancer cells |journal=Nat. Biotechnol. |volume=23 |issue= 1 |pages= 94–101 |year= 2005 |pmid= 15592455 |doi= 10.1038/nbt1046 }}
  • {{cite journal |vauthors=Ross MT, Grafham DV, Coffey AJ, etal |title=The DNA sequence of the human X chromosome |journal=Nature |volume=434 |issue= 7031 |pages= 325–37 |year= 2005 |pmid= 15772651 |doi= 10.1038/nature03440 | pmc=2665286 }}
{{refend}}

1 : Genes mutated in mice
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