Biology:RTF1
 Generic protein structure example |
Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) is a protein that in humans is encoded by the RTF1 gene.[1]
This locus may represent a gene involved in regulation of transcription elongation and chromatin remodeling, based on studies of similar proteins in other organisms. The encoded protein may bind single-stranded DNA.[1]
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 |
| DEXA | Normal |
| Radiography | Abnormal[2] |
| Body temperature | Normal |
| Eye morphology | Normal |
| Clinical chemistry | Normal |
| Plasma immunoglobulins | Normal |
| Haematology | Normal |
| Peripheral blood lymphocytes | Normal |
| Micronucleus test | Normal |
| Heart weight | Normal |
| Brain histopathology | Normal |
| Salmonella infection | Normal[3] |
| Citrobacter infection | Normal[4] |
| All tests and analysis from[5][6] |
Model organisms have been used in the study of RTF1 function. A conditional knockout mouse line, called Rtf1tm1a(KOMP)Wtsi[7][8] 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.[9][10][11]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[5][12] Twenty four tests were carried out on mutant mice and three significant abnormalities were observed.[5] No homozygous mutant embryos were identified during gestation, and therefore none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice; vertebral fusion was observed in male animals.[5]
References
- ↑ 1.0 1.1 "Entrez Gene: Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)". https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=retrieve&list_uids=23168. Retrieved 2011-09-20.
- ↑ "Radiography data for Rtf1". Wellcome Trust Sanger Institute. http://www.sanger.ac.uk/mouseportal/phenotyping/MBFS/x-ray-imaging/.
- ↑ "Salmonella infection data for Rtf1". Wellcome Trust Sanger Institute. http://www.sanger.ac.uk/mouseportal/phenotyping/MBFS/salmonella-challenge/.
- ↑ "Citrobacter infection data for Rtf1". Wellcome Trust Sanger Institute. http://www.sanger.ac.uk/mouseportal/phenotyping/MBFS/citrobacter-challenge/.
- ↑ 5.0 5.1 5.2 5.3 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". http://www.knockoutmouse.org/martsearch/search?query=Rtf1.
- ↑ "Mouse Genome Informatics". http://www.informatics.jax.org/searchtool/Search.do?query=MGI:4363925.
- ↑ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M. et al. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–342. doi:10.1038/nature10163. PMID 21677750.
- ↑ Dolgin E (2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
- ↑ "A Mouse for All Reasons". Cell 128 (1): 9–13. 2007. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
- ↑ "The mouse genetics toolkit: revealing function and mechanism.". Genome Biol 12 (6): 224. 2011. doi:10.1186/gb-2011-12-6-224. PMID 21722353.
Further reading
- Rozenblatt-Rosen, O.; Hughes, C. M.; Nannepaga, S. J.; Shanmugam, K. S.; Copeland, T. D.; Guszczynski, T.; Resau, J. H.; Meyerson, M. (2005). "The Parafibromin Tumor Suppressor Protein is Part of a Human Paf1 Complex". Molecular and Cellular Biology 25 (2): 612–620. doi:10.1128/MCB.25.2.612-620.2005. PMID 15632063.
- Warner, M. H.; Roinick, K. L.; Arndt, K. M. (2007). "Rtf1 is a Multifunctional Component of the Paf1 Complex That Regulates Gene Expression by Directing Cotranscriptional Histone Modification". Molecular and Cellular Biology 27 (17): 6103–6115. doi:10.1128/MCB.00772-07. PMID 17576814.
- De Jong, R. N.; Truffault, V.; Diercks, T.; Ab, E.; Daniels, M. A.; Kaptein, R.; Folkers, G. E. (2008). "Structure and DNA Binding of the Human Rtf1 Plus3 Domain". Structure 16 (1): 149–159. doi:10.1016/j.str.2007.10.018. PMID 18184592.
- Nordick, K.; Hoffman, M. G.; Betz, J. L.; Jaehning, J. A. (2008). "Direct Interactions between the Paf1 Complex and a Cleavage and Polyadenylation Factor Are Revealed by Dissociation of Paf1 from RNA Polymerase II". Eukaryotic Cell 7 (7): 1158–1167. doi:10.1128/EC.00434-07. PMID 18469135.
- Lango Allen, H.; Estrada, K.; Lettre, G.; Berndt, S. I.; Weedon, M. N.; Rivadeneira, F.; Willer, C. J.; Jackson, A. U. et al. (2010). "Hundreds of variants clustered in genomic loci and biological pathways affect human height". Nature 467 (7317): 832–838. doi:10.1038/nature09410. PMID 20881960. Bibcode: 2010Natur.467..832L.
- Nagase, T.; Seki, N.; Ishikawa, K.; Ohira, M.; Kawarabayasi, Y.; Ohara, O.; Tanaka, A.; Kotani, H. et al. (1996). "Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain". DNA Research 3 (5): 321–329, 341–329. doi:10.1093/dnares/3.5.321. PMID 9039502.
 |
