MTFMT

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

MTFMT
Identifiers
AliasesMTFMT, COXPD15, FMT1, mitochondrial methionyl-tRNA formyltransferase, MC1DN27
External IDsOMIM: 611766 MGI: 1916856 HomoloGene: 12320 GeneCards: MTFMT
Gene location (Human)
Chr.Chromosome 15 (human)[1]
Band15q22.31Start65,001,512 bp[1]
End65,029,639 bp[1]
Orthologs
SpeciesHumanMouse
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 MbChr 9: 65.44 – 65.45 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

Model organisms have been used in the study of MTFMT function. A conditional knockout mouse line, called Mtfmttm1a(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


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