Biology:MTRF1L
 Generic protein structure example |
Mitochondrial translational release factor 1-like is a protein that in humans is encoded by the MTRF1L gene.[1]
Mitochondrial DNA encodes 13 proteins that play essential roles in the respiratory chain, while all proteins involved in mitochondrial translation are encoded by nuclear genes that are imported from the cytoplasm. MTRF1L is a nuclear-encoded protein that functions as a releasing factor that recognizes termination codons and releases mitochondrial ribosomes from the synthesized protein (summary by Nozaki et al., 2008 [PubMed 18429816]).[supplied by OMIM].[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 |
| Auditory brainstem response | Normal |
| DEXA | Normal |
| Radiography | Normal |
| Body temperature | Normal |
| Eye morphology | Normal |
| Clinical chemistry | Abnormal[2] |
| Haematology | Normal |
| Peripheral blood lymphocytes | Normal |
| Micronucleus test | Normal |
| Heart weight | Normal |
| Tail epidermis wholemount | Normal |
| Skin Histopathology | 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 MTRF1L function. A conditional knockout mouse line, called Mtrf1ltm1a(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 — at the Wellcome Trust Sanger Institute.[9][10][11] Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[5][12] Twenty six tests were carried out on mutant mice and three significant abnormalities were observed. No homozygous mutant embryos were recorded during gestation and, in a separate study, no homozygous animals were observed at weaning. The remaining tests were carried out on adult heterozygous mutant animals and males displayed an increased circulating free fatty acid level.[5]
References
- ↑ 1.0 1.1 "Entrez Gene: Mitochondrial translational release factor 1-like". https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=retrieve&list_uids=54516. Retrieved 2011-09-20.
- ↑ "Clinical chemistry data for Mtrf1l". Wellcome Trust Sanger Institute. http://www.sanger.ac.uk/mouseportal/phenotyping/MBFL/plasma-chemistry/.
- ↑ "Salmonella infection data for Mtrf1l". Wellcome Trust Sanger Institute. http://www.sanger.ac.uk/mouseportal/phenotyping/MBFL/salmonella-challenge/.
- ↑ "Citrobacter infection data for Mtrf1l". Wellcome Trust Sanger Institute. http://www.sanger.ac.uk/mouseportal/phenotyping/MBFL/citrobacter-challenge/.
- ↑ 5.0 5.1 5.2 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.
- ↑ Mouse Resources Portal, Wellcome Trust Sanger Institute.
- ↑ "International Knockout Mouse Consortium". http://www.knockoutmouse.org/martsearch/search?query=Mtrf1l.
- ↑ "Mouse Genome Informatics". http://www.informatics.jax.org/searchtool/Search.do?query=MGI:4363611.
- ↑ 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 (June 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. January 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
Soleimanpour-Lichaei, H. R.; Kühl, I.; Gaisne, M.; Passos, J. F.; Wydro, M.; Rorbach, J.; Temperley, R.; Bonnefoy, N. et al. (2007). "MtRF1a is a Human Mitochondrial Translation Release Factor Decoding the Major Termination Codons UAA and UAG". Molecular Cell 27 (5): 745–757. doi:10.1016/j.molcel.2007.06.031. PMID 17803939. Nozaki, Y.; Matsunaga, N.; Ishizawa, T.; Ueda, T.; Takeuchi, N. (2008). "HMRF1L is a human mitochondrial translation release factor involved in the decoding of the termination codons UAA and UAG". Genes to Cells 13 (5): 429–438. doi:10.1111/j.1365-2443.2008.01181.x. PMID 18429816. Ishizawa, T.; Nozaki, Y.; Ueda, T.; Takeuchi, N. (2008). "The human mitochondrial translation release factor HMRF1L is methylated in the GGQ motif by the methyltransferase HMPrmC". Biochemical and Biophysical Research Communications 373 (1): 99–103. doi:10.1016/j.bbrc.2008.05.176. PMID 18541145. Vieira, A. R.; McHenry, T. G.; Daack-Hirsch, S.; Murray, J. C.; Marazita, M. L. (2008). "Candidate Gene/Loci Studies in Cleft Lip/Palate and Dental Anomalies Finds Novel Susceptibility Genes for Clefts". Genetics in Medicine 10 (9): 668–674. doi:10.1097/GIM.0b013e3181833793. PMID 18978678. Antonicka, H.; Østergaard, E.; Sasarman, F.; Weraarpachai, W.; Wibrand, F.; Pedersen, A. M. B.; Rodenburg, R. J.; Van Der Knaap, M. S. et al. (2010). "Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect". The American Journal of Human Genetics 87 (1): 115–122. doi:10.1016/j.ajhg.2010.06.004. PMID 20598281.
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