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Protein-coding gene in the species Homo sapiens
Mitochondrial methionyl-tRNA formyltransferase is a protein that in humans is encoded by the MTFMT gene .[ 5]
The protein encoded by this nuclear gene localizes to the mitochondrion, where it catalyzes the formylation of methionyl-tRNA.[ 5] mitochondrial disease .[ 6]
Model organisms
Model organisms have been used in the study of MTFMT function. A conditional knockout mouse line, called Mtfmttm1a(KOMP)Wtsi [ 11] [ 12] 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 .[ 13] [ 14] [ 15]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[ 9] [ 16] mutant mice and two significant abnormalities were observed.[ 9] homozygous mutant embryos displayed lethal growth retardation and oedema . In a separate study, no homozygous animals were observed at weaning . The remaining tests were carried out on adult heterozygous mutant animals, but no further abnormalities were seen.[ 9]
References
^ a b c GRCh38: Ensembl release 89: ENSG00000103707 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000059183 – 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 .^ a b "Entrez Gene: Mitochondrial methionyl-tRNA formyltransferase" . Retrieved 2011-09-20 .^ Tucker, E. J.; Hershman, S. G.; Köhrer, C.; Belcher-Timme, C. A.; Patel, J.; Goldberger, O. A.; Christodoulou, J.; Silberstein, J. M.; McKenzie, M.; Ryan, M. T.; Compton, A. G.; Jaffe, J. D.; Carr, S. A.; Calvo, S. E.; Rajbhandary, U. L.; Thorburn, D. R.; Mootha, V. K. (2011). "Mutations in MTFMT Underlie a Human Disorder of Formylation Causing Impaired Mitochondrial Translation" . Cell Metabolism . 14 (3): 428–434. doi :10.1016/j.cmet.2011.07.010 . PMC 3486727 PMID 21907147 . ^ "Salmonella infection data for Mtfmt" . Wellcome Trust Sanger Institute.^ "Citrobacter infection data for Mtfmt" . Wellcome Trust Sanger Institute.^ a b c d 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, 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 (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 Biol . 12 (6): 224. doi :10.1186/gb-2011-12-6-224 . PMC 3218837 PMID 21722353 . {{cite journal }}: CS1 maint: unflagged free DOI (link )
Further reading
