MTFMT

Mitochondrial methionyl-tRNA formyltransferase is a protein that in humans is encoded by the MTFMT gene.[5]

MTFMT
Identifiers
Aliases	MTFMT, COXPD15, FMT1, mitochondrial methionyl-tRNA formyltransferase, MC1DN27
External IDs	OMIM: 611766 MGI: 1916856 HomoloGene: 12320 GeneCards: MTFMT
Gene location (Human) Chr. Chromosome 15 (human)[1] Band 15q22.31 Start 65,001,512 bp[1] End 65,029,639 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9|9 C Start 65,435,782 bp[2] End 65,453,054 bp[2]
Gene ontology Molecular function • transferase activity • hydroxymethyl-, formyl- and related transferase activity • catalytic activity • methionyl-tRNA formyltransferase activity Cellular component • mitochondrion Biological process • conversion of methionyl-tRNA to N-formyl-methionyl-tRNA • biosynthetic process • protein biosynthesis • translational initiation Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	123263	69606
Ensembl	ENSG00000103707	ENSMUSG00000059183
UniProt	Q96DP5	Q9D799
RefSeq (mRNA)	NM_139242	NM_027134
RefSeq (protein)	NP_640335	NP_081410
Location (UCSC)	Chr 15: 65 – 65.03 Mb	Chr 9: 65.44 – 65.45 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

The protein encoded by this nuclear gene localizes to the mitochondrion, where it catalyzes the formylation of methionyl-tRNA.[5] Recessive-type mutations in MTFMT have been shown to cause mitochondrial disease.[6]

Model organisms

Mtfmt knockout mouse phenotype

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	Normal
Plasma immunoglobulins	Normal
Haematology	Normal
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	Normal
Brain histopathology	Normal
Eye Histopathology	Normal
Salmonella infection	Normal[7]
Citrobacter infection	Normal[8]
All tests and analysis from[9][10]

Model organisms have been used in the study of MTFMT function. A conditional knockout mouse line, called Mtfmt^{tm1a(KOMP)Wtsi}[11][12] 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.[13][14][15]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[9][16] Twenty six tests were carried out on mutant mice and two significant abnormalities were observed.[9] During gestation 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

1. GRCh38: Ensembl release 89: ENSG00000103707 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000059183 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: Mitochondrial methionyl-tRNA formyltransferase". Retrieved 2011-09-20.
6. "Mutations in MTFMT Underlie a Human Disorder of Formylation Causing Impaired Mitochondrial Translation". Retrieved 2012-01-03.
7. "Salmonella infection data for Mtfmt". Wellcome Trust Sanger Institute.
8. "Citrobacter infection data for Mtfmt". Wellcome Trust Sanger Institute.
9. 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.
10. Mouse Resources Portal, Wellcome Trust Sanger Institute.
11. "International Knockout Mouse Consortium".
12. "Mouse Genome Informatics".
13. 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.
14. Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
15. 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.
16. 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

• Takeuchi, N.; Kawakami, M.; Omori, A.; Ueda, T.; Spremulli, L. L.; Watanabe, K. (1998). "Mammalian mitochondrial methionyl-tRNA transformylase from bovine liver. Purification, characterization, and gene structure". The Journal of Biological Chemistry. 273 (24): 15085–15090. doi:10.1074/jbc.273.24.15085. PMID 9614118.