SMS (gen)

SMS (gen)
Dostupne strukture PDB Pretraga ortologa: PDBe RCSB Spisak PDB ID kodova 3C6K, 3C6M
Identifikatori
Aliasi	SMS
Vanjski ID-jevi	OMIM: 300105 MGI: 3705601 HomoloGene: 88709 GeneCards: SMS
Lokacija gena (čovjek) Hrom. Hromosom X[1] Bend Xp22.11 Početak 21,940,709 bp[1] Kraj 21,994,837 bp[1]
Obrazac RNK ekspresije Više referentnih podataka o ekspresiji
Ontologija gena Molekularna funkcija • aktivnost sa transferazom • spermine synthase activity Ćelijska komponenta • citosol • Egzosom Biološki proces • spermine biosynthetic process • spermine metabolic process • polyamine biosynthetic process • methionine metabolic process • polyamine metabolic process Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	6611	671878
Ensembl	ENSG00000102172	n/a
UniProt	P52788	P97355
RefSeq (mRNK)	NM_001258423 NM_004595	XM_001473434
RefSeq (bjelančevina)	NP_001245352 NP_004586	NP_033240 NP_001346114
Lokacija (UCSC)	Chr X: 21.94 – 21.99 Mb	n/a
PubMed pretraga	[2]	[3]
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Spermin-sintaza jest enzim koji je kod ljudi kodiran genom SMS.^[4][5][6]

Protein koji je kodiran ovim genom pripada porodici spermidin/spermin sintetaza. Ovaj gen kodira sveprisutni enzim metabolizma poliamina.^[6]

Model organizmi

Fenotip Sms nokaut-miša

Obilježje	Fenotip
Homozigotna vijabililnost	Normalna
Plodnost	Nenormalna
Tjelesna težina	Nenormalna[7]
Anksioznost	Normalna
Neurološka procjena	Normalna
Snaga prianjanja	Abnormal[8]
Test vrele ploče	Normalan
Dismorfologija	Normalna
Indirektna kalorimetrija	Normalna
Test tolerancije glukoze	Normalan
Odgovor slušnog moždanog stabla	Normalan
DEXA	Nenormalna[9]
Radiografija	Nenormalna[10]
Tjelesna temperatura	Normalna
Morfologija oka	Normalna
Klinička hemija	Normalna[11]
Hematologija	Normalna
Limfociti periferne krvi	Nenormalni
Mikronukleus test	Normalan
Težina srca	Normalna
Histopatologija kože	Normalna
Histopatologija oka	Normalna
Infekcija Citrobacter-om	Normalna[12]
Svi testovi i analize su prema All tests and analysis from [13][14]

U proučavanju funkcije SMS korišteni su model organizmi. Uslovna linija nokaut miša, zove se Sms^{tm1a(EUCOMM)Wtsi[15][16]} generiran je kao dio programa Međunarodnog konzorcija za miševe - visokopropusnog projekta mutageneze za generisanje i distribuciju životinjskih modela bolesti zainteresiranim naučnicima.^[17][18][19]

Muške i ženske životinje prolazile su standardizirani fenotipsko snimanje, kako bi se utvrdili efekti delecije.^[13][20] Na mutantnim miševima izvedena su 23 testa i uočeno je šest značajnih abnormalnosti.^[13] Hemizigotni mužjaci bili su neplodni i zato nije bilo moguće proizvesti homozigotne mutirane ženske miševe. Preostali testovi su zato provedeni na heterozigotnim mutiranim ženkama i hemizigotnim mužjacima. Oboje su pokazali smanjenu snagu prianjanja, dok su mužjacima, koji su također imali smanjenu tjelesnu težinu, dužinu, sadržaj minerala u kostima i atipski broj limfocita periferne krvi.^[13]

Reference

1. GRCh38: Ensembl release 89: ENSG00000102172 - Ensembl, maj 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.
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". Arhivirano s originala, 29. 5. 2012. Pristupljeno 4. 4. 2021.
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.

Dopunska literatura

• 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. Bibcode:2005Natur.434..325R. doi:10.1038/nature03440. PMC 2665286. PMID 15772651.