SUPV3L1
ATP-ovisna mitohondrijska RNK-helikaza SUPV3L jest enzim koji je kod ljudi kodiran genom SUPV3L1.[5][6][7]
Aminokiselinska sekvenca
[uredi | uredi izvor]Dužina polipeptidnog lanca je 786 aminokiselina, а molekulska težina 87.991 Da.[8]
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MSFSRALLWA | RLPAGRQAGH | RAAICSALRP | HFGPFPGVLG | QVSVLATASS | ||||
| SASGGSKIPN | TSLFVPLTVK | PQGPSADGDV | GAELTRPLDK | NEVKKVLDKF | ||||
| YKRKEIQKLG | ADYGLDARLF | HQAFISFRNY | IMQSHSLDVD | IHIVLNDICF | ||||
| GAAHADDLFP | FFLRHAKQIF | PVLDCKDDLR | KISDLRIPPN | WYPDARAMQR | ||||
| KIIFHSGPTN | SGKTYHAIQK | YFSAKSGVYC | GPLKLLAHEI | FEKSNAAGVP | ||||
| CDLVTGEERV | TVQPNGKQAS | HVSCTVEMCS | VTTPYEVAVI | DEIQMIRDPA | ||||
| RGWAWTRALL | GLCAEEVHLC | GEPAAIDLVM | ELMYTTGEEV | EVRDYKRLTP | ||||
| ISVLDHALES | LDNLRPGDCI | VCFSKNDIYS | VSRQIEIRGL | ESAVIYGSLP | ||||
| PGTKLAQAKK | FNDPNDPCKI | LVATDAIGMG | LNLSIRRIIF | YSLIKPSINE | ||||
| KGERELEPIT | TSQALQIAGR | AGRFSSRFKE | GEVTTMNHED | LSLLKEILKR | ||||
| PVDPIRAAGL | HPTAEQIEMF | AYHLPDATLS | NLIDIFVDFS | QVDGQYFVCN | ||||
| MDDFKFSAEL | IQHIPLSLRV | RYVFCTAPIN | KKQPFVCSSL | LQFARQYSRN | ||||
| EPLTFAWLRR | YIKWPLLPPK | NIKDLMDLEA | VHDVLDLYLW | LSYRFMDMFP | ||||
| DASLIRDLQK | ELDGIIQDGV | HNITKLIKMS | ETHKLLNLEG | FPSGSQSRLS | ||||
| GTLKSQARRT | RGTKALGSKA | TEPPSPDAGE | LSLASRLVQQ | GLLTPDMLKQ | ||||
| LEKEWMTQQT | EHNKEKTESG | THPKGTRRKK | KEPDSD |
Modelni organizmi
[uredi | uredi izvor]| Svojstvo | Fenotip |
|---|---|
| Homozigotna vijabilnost | Nenormalan |
| Studija recesivne letalnosti | Nenormalan |
| Plodnost | Normalan |
| Tjelesna težina | Normalan |
| Anksioznost otvorenog polja | Normalan |
| Neurološka procjena | Normalan |
| Snaga stiska | Normalan |
| Test vruće ploče | Normalan |
| Dismorfologija | Normalan |
| Indirektna kalorimetrija | Normalan |
| Test tolerancije glukoze | Normalan |
| Slušni oddovor moždanog stabla | Normalan |
| DEXA | Normalan |
| Radiografija | Nenormalan[9] |
| Tjelesna temperatura | Normalan |
| Morphologija oka | Normalan |
| Klinička hemija | Normalan |
| Plazmatski imunoglobulini | Normalan |
| Hematologija | Normalan |
| Limfociti periferne krvi | Normalan |
| Mikronukleus test | Normalan |
| Težina srca | Normalan |
| Histopatologija kože | Normalan |
| Histopathologija mozga | Normalan |
| Salmonella infekcija | Normalan[10] |
| Citrobacter infekcija | Normalan[11] |
| Svi testovi i analize su prema linku[12][13] |
U proučavanju funkcije SUPV3L1 korišteni su i modelni organizmi. Uslovna nokaut-mišja linija, tzv. Supv3l1tm1a(EUCOMM)Wtsi[14][15] generirana je kao dio programa Međunarodnog konzorcija za nokaut-miševe programa-projekta velike mutageneze za generiranje i distribuciju životinjskih modela bolesti zainteresiranim znanstvenicima – na Wellcome Trust Sanger Institute.[16][17][18]
Mužjaci i ženke podvrgnuti su standardiziranom fenotipskom pregledu, kako bi se utvrdili efekti delecija.[12][19] Izvedeno je 26 testova, a prijavljena su tri značajno aberantna fenotipa. Sve homozigotne mutantne životinje uginule su prije rođenja, pa stoga nijedna nije primijećena pri odbiću. Preostali testovi provedeni su na heterozigotnim mutiranim miševima i radiografija je pokazala da su ženke imale nedostatke u poprečnim nastavcima.[12]
Reference
[uredi | uredi izvor]- ^ a b c GRCh38: Ensembl release 89: ENSG00000156502 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020079 - 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.
- ^ Dmochowska A, Stankiewicz P, Golik P, Stepien PP, Bocian E, Hansmann I, Bartnik E (Mar 1999). "Assignment1 of SUPV3L1 to human chromosome band 10q22.1 by in situ hybridization". Cytogenetics and Cell Genetics. 83 (1–2): 84–5. doi:10.1159/000015135. PMID 9925937. S2CID 903791.
- ^ Minczuk M, Mroczek S, Pawlak SD, Stepien PP (oktobar 2005). "Human ATP-dependent RNA/DNA helicase hSuv3p interacts with the cofactor of survivin HBXIP". The FEBS Journal. 272 (19): 5008–19. doi:10.1111/j.1742-4658.2005.04910.x. PMID 16176273. S2CID 40846992.
- ^ "Entrez Gene: SUPV3L1 suppressor of var1, 3-like 1 (S. cerevisiae)".
- ^ "UniProt, Q8IYB8". Pristupljeno 5. 9. 2021.
- ^ "Radiography data for Supv3l1". Wellcome Trust Sanger Institute.
- ^ "Salmonella infection data for Supv3l1". Wellcome Trust Sanger Institute.
- ^ "Citrobacter infection data for Supv3l1". Wellcome Trust Sanger Institute.
- ^ a b c Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
- ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
- ^ "International Knockout Mouse Consortium". Arhivirano s originala, 20. 3. 2012. Pristupljeno 5. 9. 2021.
- ^ "Mouse Genome Informatics".
- ^ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (juni 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
- ^ Dolgin E (juni 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
- ^ Collins FS, Rossant J, Wurst W (januar 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.
- ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.
Dopunska literatura
[uredi | uredi izvor]- Glatt H (decembar 2000). "Sulfotransferases in the bioactivation of xenobiotics". Chemico-Biological Interactions. 129 (1–2): 141–70. doi:10.1016/S0009-2797(00)00202-7. PMID 11154739.
- Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee NH, Kirkness EF, Weinstock KG, Gocayne JD, White O (septembar 1995). "Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence". Nature. 377 (6547 Suppl): 3–174. PMID 7566098.
- Minczuk M, Piwowarski J, Papworth MA, Awiszus K, Schalinski S, Dziembowski A, Dmochowska A, Bartnik E, Tokatlidis K, Stepien PP, Borowski P (decembar 2002). "Localisation of the human hSuv3p helicase in the mitochondrial matrix and its preferential unwinding of dsDNA". Nucleic Acids Research. 30 (23): 5074–86. doi:10.1093/nar/gkf647. PMC 137961. PMID 12466530.
- Shu Z, Vijayakumar S, Chen CF, Chen PL, Lee WH (april 2004). "Purified human SUV3p exhibits multiple-substrate unwinding activity upon conformational change". Biochemistry. 43 (16): 4781–90. doi:10.1021/bi0356449. PMID 15096047.
- Minczuk M, Lilpop J, Boros J, Stepien PP (juni 2005). "The 5' region of the human hSUV3 gene encoding mitochondrial DNA and RNA helicase: promoter characterization and alternative pre-mRNA splicing". Biochimica et Biophysica Acta. 1729 (2): 81–7. doi:10.1016/j.bbaexp.2005.04.005. PMID 15919122.
- Szczesny RJ, Obriot H, Paczkowska A, Jedrzejczak R, Dmochowska A, Bartnik E, Formstecher P, Polakowska R, Stepien PP (juni 2007). "Down-regulation of human RNA/DNA helicase SUV3 induces apoptosis by a caspase- and AIF-dependent pathway". Biology of the Cell. 99 (6): 323–32. doi:10.1042/BC20060108. PMID 17352692. S2CID 174431.