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
Kraj	21,994,837 bp
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
	6611
	671878
	ENSG00000102172
	n/a
	P52788
	P97355
	NM_001258423; NM_004595
	XM_001473434
	NP_001245352; NP_004586
	NP_033240; NP_001346114
	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[uredi | uredi izvor]

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[uredi | uredi izvor]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000102172 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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 održavanje: više imena: authors list (link)
^ 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.
^ ^a ^b "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.
^ ^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.
^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
^ "International Knockout Mouse Consortium". Arhivirano s originala, 29. 5. 2012. Pristupljeno 4. 4. 2021.
^ "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.

Dopunska literatura[uredi | uredi izvor]

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.

[refGRCh38Ensembl-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.

[pmid7546290-4] 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 održavanje: više imena: authors list (link)

[pmid9299240-5] 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.

[entrez-6] "Entrez Gene: SMS spermine synthase".

[Body_weight-7] "Body weight data for Sms". Wellcome Trust Sanger Institute.

[Grip_strength-8] "Grip strength data for Sms". Wellcome Trust Sanger Institute.

[DEXA-9] "DEXA data for Sms". Wellcome Trust Sanger Institute.

[Radiography-10] "Radiography data for Sms". Wellcome Trust Sanger Institute.

[Clinical_chemistry-11] "Clinical chemistry data for Sms". Wellcome Trust Sanger Institute.

[''Citrobacter''_infection-12] "Citrobacter infection data for Sms". Wellcome Trust Sanger Institute.

[mgp_reference-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.

[allele_ref-15] "International Knockout Mouse Consortium". Arhivirano s originala, 29. 5. 2012. Pristupljeno 4. 4. 2021.

[mgi_allele_ref-16] "Mouse Genome Informatics".

[pmid21677750-17] 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.

[mouse_library-18] Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.

[mouse_for_all_reasons-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.

[pmid21722353-20] 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.

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