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Transcription factor B1, mitochondrial

TFB1M, mtTFB1, mitochondrial transcription factor B1, mtTFB, mitochondrial transcription factor B
The protein encoded by this gene is a dimethyltransferase that methylates the conserved stem loop of mitochondrial 12S rRNA. The encoded protein also is part of the basal mitochondrial transcription complex and is necessary for mitochondrial gene expression. The methylation and transcriptional activities of this protein are independent of one another. Variations in this gene may influence the severity of aminoglycoside-induced deafness (AID).[provided by RefSeq, Aug 2010] (from NCBI)
Top mentioned proteins: TFB2M, TFAM, POLYMERASE, CAN, Nuclear Respiratory Factor 1
Papers on TFB1M
Overexpression of the mitochondrial methyltransferase TFB1M in the mouse does not impact mitoribosomal methylation status or hearing.
Larsson et al., Stockholm, Sweden. In Hum Mol Genet, Jan 2016
In support for this concept, it was reported that overexpression of the essential mitochondrial methyltransferase TFB1M in the mouse was sufficient to induce mitoribosomal hypermethylation and deafness.
Auditory Pathology in a Transgenic mtTFB1 Mouse Model of Mitochondrial Deafness.
Shadel et al., Göttingen, Germany. In Am J Pathol, Dec 2015
A transgenic mouse strain that robustly overexpresses the mitochondrial 12S ribosomal RNA methyltransferase TFB1M (Tg-mtTFB1 mice) exhibits progressive hearing loss that we proposed models aspects of A1555G-related pathology in humans.
PGC-related gene variants and elite endurance athletic status in a Chinese cohort: a functional study.
Lucia et al., Beijing, China. In Scand J Med Sci Sports, Apr 2015
Genotype distributions of 133 SNPs in PPARGC1A, PPARGC1B, PPRC1, TFAM, TFB1M, TFB2M, NRF1, GABPA, GABPB1, ERRα, and SIRT1 genes were compared between 235 elite Chinese (Han) endurance runners (127 women) and 504 healthy non-athletic controls (237 women).
Mitochondrial m.1584A 12S m62A rRNA methylation in families with m.1555A>G associated hearing loss.
Bitner-Glindzicz et al., London, United Kingdom. In Hum Mol Genet, Mar 2015
12S m(6) 2A rRNA methylation, by the mitochondrial transcription factor 1 (TFB1M) enzyme, occurs at two successive nucleotides (m.1584A and m.1583A) in close proximity to m.1555A>G.
Prevention of oxidative stress, inflammation and mitochondrial dysfunction in the intestine by different cranberry phenolic fractions.
Levy et al., Québec, Canada. In Clin Sci (lond), Feb 2015
Finally, cranberry procyanidins forestalled the effect of iron/ascorbate on the protein expression of mitochondrial transcription factors (mtTFA, mtTFB1, mtTFB2).
GABP transcription factor (nuclear respiratory factor 2) is required for mitochondrial biogenesis.
Rosmarin et al., Worcester, United States. In Mol Cell Biol, 2014
However, the expression of Tfb1m, a methyltransferase that modifies ribosomal rRNA and is required for mitochondrial protein translation, was markedly reduced in Gabpα-null MEFs.
Nuclear factors: roles related to mitochondrial deafness.
Yang et al., Hangzhou, China. In Gene, 2013
TFB1M, MTO1, GTPBP3, and TRMU are modifier genes.
Mitochondrial stress engages E2F1 apoptotic signaling to cause deafness.
Shadel et al., New Haven, United States. In Cell, 2012
The A1555G mtDNA mutation that causes maternally inherited deafness disrupts mitochondrial ribosome function, in part, via increased methylation of the mitochondrial 12S rRNA by the methyltransferase mtTFB1.
A common variant in TFB1M is associated with reduced insulin secretion and increased future risk of type 2 diabetes.
Ling et al., Malmö, Sweden. In Cell Metab, 2011
Deficiency in TFB1M and impaired mitochondrial function contribute to the pathogenesis of type 2 diabetes.
Training response of mitochondrial transcription factors in human skeletal muscle.
Sundberg et al., Stockholm, Sweden. In Acta Physiol (oxf), 2010
The mRNA levels of TFB1M and TFB2M are influenced by endurance training
Elucidation of separate, but collaborative functions of the rRNA methyltransferase-related human mitochondrial transcription factors B1 and B2 in mitochondrial biogenesis reveals new insight into maternally inherited deafness.
Shadel et al., New Haven, United States. In Hum Mol Genet, 2009
rRNA methyltransferase activity is necessary for induction of mitochondrial biogenesis by TFB1M, but not TFB2M.
Mutational screening of the mitochondrial transcription factors B1 and B2 (TFB1M and TFB2M) in Parkinson's disease.
Alvarez et al., Oviedo, Spain. In Parkinsonism Relat Disord, 2009
This study suggested that DNA variants in TFB1M did not contribute to the risk for parkinson disease.
Methylation of 12S rRNA is necessary for in vivo stability of the small subunit of the mammalian mitochondrial ribosome.
Larsson et al., Stockholm, Sweden. In Cell Metab, 2009
We have disrupted the mouse Tfb1m gene encoding a mitochondrial protein homologous to bacterial dimethyltransferases and demonstrate here that loss of TFB1M is embryonic lethal.
Something old, something new, something borrowed ...
Shoubridge, Montréal, Canada. In Cell Metab, 2009
Two mammalian mitochondrial transcription factors (TFB1M and TFB2M) share homology with universally expressed dimethyltransferases that modify conserved adenines in the small ribosomal subunit rRNA.
[Lesions of the mitochondrial genome and ways of its preservation].
Shaĭkhaev et al., In Genetika, 2008
In their turn, NRF-1 and NRF-2 control the expression of mitochondrial transcription factors mtTFA, mtTFB-1, and mtTFB-2.
Transcriptional paradigms in mammalian mitochondrial biogenesis and function.
Scarpulla, Chicago, United States. In Physiol Rev, 2008
Transcription of mtDNA requires a small number of nucleus-encoded proteins including a single RNA polymerase (POLRMT), auxiliary factors necessary for promoter recognition (TFB1M, TFB2M) and activation (Tfam), and a termination factor (mTERF).
Mitochondrial transcription factors TFA, TFB1 and TFB2: a search for DNA variants/haplotypes and the risk of cardiac hypertrophy.
Coto et al., Oviedo, Spain. In Dis Markers, 2007
determined the variation in the TFAM, TFB1M, and TFB2M genes in cardiac hypertrophy
Mitochondrial transcription and its regulation in mammalian cells.
Gustafsson et al., Stockholm, Sweden. In Trends Biochem Sci, 2007
The mitochondrial genome is transcribed by a specialized machinery that includes a monomeric RNA polymerase, the mitochondrial transcription factor A and one of the two mitochondrial transcription factor B paralogues, TFB1M or TFB2M.
Initiation and beyond: multiple functions of the human mitochondrial transcription machinery.
Shadel et al., New Haven, United States. In Mol Cell, 2007
Recently, the core human mitochondrial transcription machinery has been defined, comprising a bacteriophage-related mtRNA polymerase (POLRMT), an HMG-box transcription factor (h-mtTFA), and two transcription factors (h-mtTFB1 and h-mtTFB2) that also serve as rRNA methyltransferases.
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