A dual-function mitochondrial transcription factor tunes out deafness

Molecular Genetics and Metabolism

Volumn 82, Issue 1, 2004, Pages 1-3

  Shadel, Gerald S ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINOGLYCOSIDE ANTIBIOTIC AGENT; KASUGAMYCIN; MITOCHONDRIAL PROTEIN; TRANSCRIPTION FACTOR;

EXTRACHROMOSOMAL INHERITANCE; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; HEARING IMPAIRMENT; HUMAN; MITOCHONDRIAL GENETICS; NOTE; PERCEPTION DEAFNESS; POINT MUTATION; PRIORITY JOURNAL; RNA TRANSLATION;

CHROMOSOMES, HUMAN, PAIR 6; DEAFNESS; DNA, MITOCHONDRIAL; DNA-BINDING PROTEINS; GENE EXPRESSION; GENETIC MARKERS; HUMANS; MITOCHONDRIAL PROTEINS; SYNDROME; TRANSCRIPTION FACTORS;

EID: 1942456847     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2004.02.003     Document Type: Note

References (16)

1. Holt I.J., Harding A.E., Morgan-Hughes J.A. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature. 331:1988;717-719.
2. Wallace D.C., Singh G., Lott M.T., Hodge J.A., Schurr T.G., Lezza A.M., Elsas II L.J., Nikoskelainen E.K. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science. 242:1988;1427-1430.
3. Shadel G.S., Clayton D.A. Mitochondrial DNA maintenance in vertebrates. Annu. Rev. Biochem. 66:1997;409-435.
4. Bykhovskaya Y., Mengesha E., Wang D., Yang H., Estivill X., Shohat M., Fischel-Ghodsian N. Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation. Mol. Genet. Metab. 82:2004;27-32.
5. McCulloch V., Seidel-Rogol B.L., Shadel G.S. A human mitochondrial transcription factor is related to RNA adenine methyltransferases and binds S-adenosylmethionine. Mol. Cell. Biol. 22:2002;1116-1125.
6. Gold M., Rapin I., Shanske S. Mitochondrial inheritance of acquired deafness. Ann. N.Y. Acad. Sci. 630:1991;301-302.
7. Hu D.N., Qui W.Q., Wu B.T., Fang L.Z., Zhou F., Gu Y.P., Zhang Q.H., Yan J.H., Ding Y.Q., Wong H. Genetic aspects of antibiotic induced deafness: mitochondrial inheritance. J. Med. Genet. 28:1991;79-83.
8. Fischel-Ghodsian N. Genetic factors in aminoglycoside toxicity. Ann. N.Y. Acad. Sci. 884:1999;99-109.
9. Estivill X., Govea N., Barcelo E., Badenas C., Romero E., Moral L., Scozzri R., D'Urbano L., Zeviani M., Torroni A. Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. Am. J. Hum. Genet. 62:1998;27-35.
10. Hutchin T., Haworth I., Higashi K., Fischel-Ghodsian N., Stoneking M., Saha N., Arnos C., Cortopassi G. A molecular basis for human hypersensitivity to aminoglycoside antibiotics. Nucleic Acids Res. 21:1993;4174-4179.
11. Prezant T.R., Agapian J.V., Bohlman M.C., Bu X., Oztas S., Qiu W.Q., Arnos K.S., Cortopassi G.A., Jaber L., Rotter J.I.et al. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat. Genet. 4:1993;289-294.
12. Guan M.X., Fischel-Ghodsian N., Attardi G. Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation. Hum. Mol. Genet. 10:2001;573-580.
13. Bykhovskaya Y., Estivill X., Taylor K., Hang T., Hamon M., Casano R.A., Yang H., Rotter J.I., Shohat M., Fischel-Ghodsian N. Candidate locus for a nuclear modifier gene for maternally inherited deafness. Am. J. Hum. Genet. 66:2000;1905-1910.
14. Li X., Li R., Lin X., Guan M.X. Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12S rRNA A1555G mutation. J. Biol. Chem. 277:2002;27256-27264.
15. Seidel-Rogol B.L., McCulloch V., Shadel G.S. Human mitochondrial transcription factor B1 methylates ribosomal RNA at a conserved stem-loop. Nat. Genet. 33:2003;23-24.
16. McCulloch V., Shadel G.S. Human mitochondrial transcription factor B1 interacts with the C-terminal activation region of h-mtTFA and stimulates transcription independently of its RNA methyltransferase activity. Mol. Cell. Biol. 23:2003;5816-5824.