EIF2C1
From Wikipedia, the free encyclopedia
Protein argonaute-1 is a protein that in humans is encoded by the EIF2C1 gene.[1][2][3]
This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, and contains a PAZ domain and a PIWI domain. It may interact with dicer1 and play a role in short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a cluster of closely related family members including argonaute 3, and argonaute 4.[3]
Model organisms
| Characteristic | Phenotype |
|---|---|
| Homozygote viability | 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 | Normal |
| Body temperature | Normal |
| Eye morphology | Normal |
| Clinical chemistry | Abnormal |
| Haematology | Normal |
| Micronucleus test | Normal |
| Heart weight | Normal |
| Eye Histopathology | Normal |
| Salmonella infection | Normal[4] |
| Citrobacter infection | Normal[5] |
| All tests and analysis from[6][7] |
Model organisms have been used in the study of EIF2C1 function. A conditional knockout mouse line, called Eif2c1tm1a(KOMP)Wtsi[8][9] 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.[10][11][12]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[6][13] Twenty two tests were carried out on mutant mice and two significant abnormalities were observed: homozygous mutants were subviable and females also had decreased circulating aspartate transaminase levels. [6]
References
- ↑ Koesters R, Adams V, Betts D, Moos R, Schmid M, Siermann A, Hassam S, Weitz S, Lichter P, Heitz PU, von Knebel Doeberitz M, Briner J (Dec 1999). "Human eukaryotic initiation factor EIF2C1 gene: cDNA sequence, genomic organization, localization to chromosomal bands 1p34-p35, and expression". Genomics 61 (2): 210–8. doi:10.1006/geno.1999.5951. PMID 10534406.
- ↑ Sasaki T, Shiohama A, Minoshima S, Shimizu N (Aug 2003). "Identification of eight members of the Argonaute family in the human genome small star, filled". Genomics 82 (3): 323–30. doi:10.1016/S0888-7543(03)00129-0. PMID 12906857.
- ↑ 3.0 3.1 "Entrez Gene: EIF2C1 eukaryotic translation initiation factor 2C, 1".
- ↑ "Salmonella infection data for Eif2c1". Wellcome Trust Sanger Institute.
- ↑ "Citrobacter infection data for Eif2c1". Wellcome Trust Sanger Institute.
- ↑ 6.0 6.1 6.2 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".
- ↑ "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.
Further reading
- Carmell MA, Xuan Z, Zhang MQ, Hannon GJ (2002). "The Argonaute family: tentacles that reach into RNAi, developmental control, stem cell maintenance, and tumorigenesis". Genes Dev. 16 (21): 2733–42. doi:10.1101/gad.1026102. PMID 12414724.
- Reddy PH, Stockburger E, Gillevet P, Tagle DA (1998). "Mapping and characterization of novel (CAG)n repeat cDNAs from adult human brain derived by the oligo capture method". Genomics 46 (2): 174–82. doi:10.1006/geno.1997.5044. PMID 9417904.
- Cikaluk DE, Tahbaz N, Hendricks LC, et al. (1999). "GERp95, a membrane-associated protein that belongs to a family of proteins involved in stem cell differentiation". Mol. Biol. Cell 10 (10): 3357–72. PMC 25603. PMID 10512872.
- Martinez J, Patkaniowska A, Urlaub H, et al. (2003). "Single-stranded antisense siRNAs guide target RNA cleavage in RNAi". Cell 110 (5): 563–74. doi:10.1016/S0092-8674(02)00908-X. PMID 12230974.
- 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.
- Doi N, Zenno S, Ueda R, et al. (2003). "Short-interfering-RNA-mediated gene silencing in mammalian cells requires Dicer and eIF2C translation initiation factors". Curr. Biol. 13 (1): 41–6. doi:10.1016/S0960-9822(02)01394-5. PMID 12526743.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Ma JB, Ye K, Patel DJ (2004). "Structural basis for overhang-specific small interfering RNA recognition by the PAZ domain". Nature 429 (6989): 318–22. doi:10.1038/nature02519. PMID 15152257.
- 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.
- Sen GL, Blau HM (2005). "Argonaute 2/RISC resides in sites of mammalian mRNA decay known as cytoplasmic bodies". Nat. Cell Biol. 7 (6): 633–6. doi:10.1038/ncb1265. PMID 15908945.
- Liu J, Valencia-Sanchez MA, Hannon GJ, Parker R (2005). "MicroRNA-dependent localization of targeted mRNAs to mammalian P-bodies". Nat. Cell Biol. 7 (7): 719–23. doi:10.1038/ncb1274. PMC 1855297. PMID 15937477.
- Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature 441 (7091): 315–21. doi:10.1038/nature04727. PMID 16710414.
- Chu CY, Rana TM (2006). "Translation repression in human cells by microRNA-induced gene silencing requires RCK/p54". PLoS Biol. 4 (7): e210. doi:10.1371/journal.pbio.0040210. PMC 1475773. PMID 16756390.
- Kim DH, Villeneuve LM, Morris KV, Rossi JJ (2006). "Argonaute-1 directs siRNA-mediated transcriptional gene silencing in human cells". Nat. Struct. Mol. Biol. 13 (9): 793–7. doi:10.1038/nsmb1142. PMID 16936726.
- Janowski BA, Huffman KE, Schwartz JC, et al. (2006). "Involvement of AGO1 and AGO2 in mammalian transcriptional silencing". Nat. Struct. Mol. Biol. 13 (9): 787–92. doi:10.1038/nsmb1140. PMID 16936728.
- Sasaki T, Shimizu N (2007). "Evolutionary conservation of a unique amino acid sequence in human DICER protein essential for binding to Argonaute family proteins". Gene 396 (2): 312–20. doi:10.1016/j.gene.2007.04.001. PMID 17482383.
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