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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
Gene Review

MT-TK  -  mitochondrially encoded tRNA lysine

Homo sapiens

 
 
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Disease relevance of MT-TK

 

High impact information on MT-TK

  • Using TTGE (temporal temperature-gradient gel electrophoresis) and sequence analyses of the entire mitochondrial genome, we identified a novel heteroplasmic mutation (8300T>C) in the tRNA(lys) gene (MTTK) from a patient with unexplained exercise intolerance [2].
  • The prevalence of a 9-base-pair (bp) deletion between the mitochondrial cytochrome oxidase II (MTCOX*2) and lysine tRNA (MTTK) genes (region V) has been used to estimate the genetic relationships among Asian and Pacific populations [3].
  • While in parts congruent to the plastid TRNK intron phylogeny, a higher divergence of some sequences in PRT1 and in the previously reported, non cpDNA dataset indicates that remnants of an older species stock persisted east of Wallace's line and on the Sunda Shelf [4].
  • We found that the Leishmania RNA import complex (RIC) could enter human cells by a caveolin-1-dependent pathway, where it induced import of endogenous cytosolic tRNAs, including tRNA(Lys), and restored mitochondrial function in a cybrid harboring a mutant mt tRNA(Lys) (MT-TK) gene [5].
 

Biological context of MT-TK

  • These results indicated that the phylogeny of the TRNK intron could not reflect true phylogenetic relationships [4].
 

Analytical, diagnostic and therapeutic context of MT-TK

  • Sequence analysis of the cpDNA TRNK intron supports this hypothesis showing the species of the Malay Archipelago as neighbour group to the isolated species from Sri Lanka, the Seychelles, and Madagascar. Based on phylogenetic reconstructions an origin of recent Nepenthaceae in the Indian subcontinent is assumed [4].

References

  1. Detection of Common Disease-Causing Mutations in Mitochondrial DNA (Mitochondrial Encephalomyopathy, Lactic Acidosis with Stroke-Like Episodes MTTL1 3243 A>G and Myoclonic Epilepsy Associated with Ragged-Red Fibers MTTK 8344A>G) by Real-Time Polymerase Chain Reaction. Fan, H., Civalier, C., Booker, J.K., Gulley, M.L., Prior, T.W., Farber, R.A. The Journal of molecular diagnostics : JMD. (2006) [Pubmed]
  2. Exercise intolerance associated with a novel 8300t>C mutation in mitochondrial transfer RNA(lys). Gambello, M.J., Bai, R.K., Chen, T.J., Dimachkie, M., Wong, L.J. Muscle Nerve (2006) [Pubmed]
  3. Length variations in the COII-tRNA(Lys) intergenic region of mitochondrial DNA in Indonesian populations. Handoko, H.Y., Lum, J.K., Gustiani, n.u.l.l., Rismalia, n.u.l.l., Kartapradja, H., Sofro, A.S., Marzuki, S. Hum. Biol. (2001) [Pubmed]
  4. Introduction of a nuclear marker for phylogenetic analysis of nepenthaceae. Meimberg, H., Heubl, G. Plant biology (Stuttgart, Germany) (2006) [Pubmed]
  5. Functional Delivery of a Cytosolic tRNA into Mutant Mitochondria of Human Cells. Mahata, B., Mukherjee, S., Mishra, S., Bandyopadhyay, A., Adhya, S. Science (2006) [Pubmed]
 
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