SUPV3L1
ATP-dependent RNA helicase SUPV3L1, mitochondrial is an enzyme that in humans is encoded by the SUPV3L1 gene.[5][6][7]
Model organisms
| Characteristic | Phenotype |
|---|---|
| Homozygote viability | Abnormal |
| Recessive lethal study | Abnormal |
| Fertility | Normal |
| Body weight | Normal |
| Anxiety | Normal |
| Neurological assessment | Normal |
| Grip strength | Normal |
| Hot plate | Normal |
| Dysmorphology | Normal |
| Indirect calorimetry | Normal |
| Glucose tolerance test | Normal |
| Auditory brainstem response | Normal |
| DEXA | Normal |
| Radiography | Abnormal[8] |
| Body temperature | Normal |
| Eye morphology | Normal |
| Clinical chemistry | Normal |
| Plasma immunoglobulins | Normal |
| Haematology | Normal |
| Peripheral blood lymphocytes | Normal |
| Micronucleus test | Normal |
| Heart weight | Normal |
| Skin Histopathology | Normal |
| Brain histopathology | Normal |
| Salmonella infection | Normal[9] |
| Citrobacter infection | Normal[10] |
| All tests and analysis from[11][12] |
Model organisms have been used in the study of SUPV3L1 function. A conditional knockout mouse line, called Supv3l1tm1a(EUCOMM)Wtsi[13][14] 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 — at the Wellcome Trust Sanger Institute.[15][16][17]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[11][18] Twenty six tests were carried out and three significant phenotypes were reported. All homozygous mutant animals died prior to birth, and therefore none were observed at weaning. The remaining tests were carried out on heterozygous mutant mice and radiography showed female animals had defects in their transverse processes.[11]
References
- GRCh38: Ensembl release 89: ENSG00000156502 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000020079 - Ensembl, May 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 (October 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)".
- "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.
- 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".
- "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 (June 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 (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
- Collins FS, Rossant J, Wurst W (January 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.
Further reading
- Glatt H (December 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 (September 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 (December 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 (June 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 (June 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.
External links
- Overview of all the structural information available in the PDB for UniProt: Q8IYB8 (ATP-dependent RNA helicase SUPV3L1, mitochondria) at the PDBe-KB.
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