Coupling the mitochondrial transcription machinery to human disease

Trends in Genetics

Volumn 20, Issue 10, 2004, Pages 513-519

  Shadel, Gerald S ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; RNA METHYLTRANSFERASE; TRANSCRIPTION FACTOR;

APOPTOSIS; CALCIUM HOMEOSTASIS; CELL FUNCTION; CELL MEMBRANE; ENERGY METABOLISM; GENE CONTROL; GENE EXPRESSION; GENETIC LINKAGE; GENETIC TRANSCRIPTION; GENOME; HEARING IMPAIRMENT; HUMAN; LEIGH DISEASE; MITOCHONDRION; OXIDATIVE PHOSPHORYLATION; PRIORITY JOURNAL; REVIEW; SACCHAROMYCES CEREVISIAE;

ANIMALS; CYTOCHROME-C OXIDASE DEFICIENCY; DEAFNESS; DNA-DIRECTED RNA POLYMERASES; HUMANS; LEIGH DISEASE; METHYLATION; METHYLTRANSFERASES; MITOCHONDRIA; MODELS, BIOLOGICAL; OXIDATIVE PHOSPHORYLATION; SACCHAROMYCES CEREVISIAE; TRANSCRIPTION FACTORS; TRANSCRIPTION, GENETIC;

SACCHAROMYCES; SACCHAROMYCES CEREVISIAE;

EID: 4444268726     PISSN: 01689525     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.tig.2004.08.005     Document Type: Review

References (56)

1. E.A. Schon Mitochondrial genetics and disease Trends Biochem. Sci. 25 2000 555 560
2. G.S. Shadel, and D.A. Clayton Mitochondrial transcription initiation. Variation and conservation J. Biol. Chem. 268 1993 16083 16086
3. A.L. Greenleaf Yeast RPO41 gene product is required for transcription and maintenance of the mitochondrial genome Proc. Natl. Acad. Sci. U. S. A. 83 1986 3391 3394
4. B.S. Masters Yeast mitochondrial RNA polymerase is homologous to those encoded by bacteriophages T3 and T7 Cell 51 1987 89 99
5. T. Lisowsky, and G. Michaelis Mutations in the genes for mitochondrial RNA polymerase and a second mitochondrial transcription factor of Saccharomyces cerevisiae Mol. Gen. Genet. 219 1989 125 128
6. S.H. Jang, and J.A. Jaehning The yeast mitochondrial RNA polymerase specificity factor, MTF1, is similar to bacterial sigma factors J. Biol. Chem. 266 1991 22671 22677
7. G.S. Shadel, and D.A. Clayton Mitochondrial DNA maintenance in vertebrates Annu. Rev. Biochem. 66 1997 409 435
8. M.A. Parisi, and D.A. Clayton Similarity of human mitochondrial transcription factor 1 to high mobility group proteins Science 252 1991 965 969
9. J.F. Diffley, and B. Stillman A close relative of the nuclear, chromosomal high-mobility group protein HMG1 in yeast mitochondria Proc. Natl. Acad. Sci. U. S. A. 88 1991 7864 7868
10. B. Xu, and D.A. Clayton Assignment of a yeast protein necessary for mitochondrial transcription initiation Nucleic Acids Res. 20 1992 1053 1059
11. D.J. Dairaghi Addition of a 29 residue carboxyl-terminal tail converts a simple HMG box-containing protein into a transcriptional activator J. Mol. Biol. 249 1995 11 28
12. J.A. Jaehning Mitochondrial transcription: is a pattern emerging? Mol. Microbiol. 8 1993 1 4
13. V. Tiranti Identification of the gene encoding the human mitochondrial RNA polymerase (h-mtRPOL) by cyberscreening of the Expressed Sequence Tags database Hum. Mol. Genet. 6 1997 615 625
14. I. Antoshechkin, and D.F. Bogenhagen Distinct roles for two purified factors in transcription of Xenopus mitochondrial DNA Mol. Cell. Biol. 15 1995 7032 7042
15. V. McCulloch A human mitochondrial transcription factor is related to RNA adenine methyltransferases and binds S-adenosylmethionine Mol. Cell. Biol. 22 2002 1116 1125
16. M. Falkenberg Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA Nat. Genet. 31 2002 289 294
17. Y. Matsushima Drosophila mitochondrial transcription factor B2 regulates mitochondrial DNA copy number and transcription in schneider cells J. Biol. Chem. 279 2004 26900 26905
18. F.D. Schubot Crystal structure of the transcription factor sc-mtTFB offers insights into mitochondrial transcription Protein Sci. 10 2001 1980 1988
19. H.C. O'Farrell Crystal Structure of kKsgA, a universally conserved RNA adenine dimethyltransferase in Escherichia coli J. Mol. Biol. 339 2004 337 353
20. J.A. Carrodeguas Functional conservation of yeast mtTFB despite extensive sequence divergence Gene Expr. 6 1996 219 230
21. G.S. Shadel, and D.A. Clayton A Saccharomyces cerevisiae mitochondrial transcription factor, sc-mtTFB, shares features with sigma factors but is functionally distinct Mol. Cell. Biol. 15 1995 2101 2108
22. B.L. Seidel-Rogol Human mitochondrial transcription factor B1 methylates ribosomal RNA at a conserved stem-loop Nat. Genet. 33 2003 23 24
23. V. McCulloch, and G.S. Shadel 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
24. M.A. Karlok Mutations in the yeast mitochondrial RNA polymerase specificity factor, Mtf1, verify an essential role in promoter utilization J. Biol. Chem. 277 2002 28143 28149
25. M. Matsunaga, and J.A. Jaehning A mutation in the yeast mitochondrial core RNA polymerase, Rpo41, confers defects in both specificity factor interaction and promoter utilization J. Biol. Chem. 279 2004 2012 2019
26. T.I. Alam Human mitochondrial DNA is packaged with TFAM Nucleic Acids Res. 31 2003 1640 1645
27. I. Antoshechkin The HMG-box mitochondrial transcription factor xl-mtTFA binds DNA as a tetramer to activate bidirectional transcription EMBO J. 16 1997 3198 3206
28. M.M. Dinardo Acetylation and level of mitochondrial transcription factor A in several organs of young and old rats Biochem. Biophys. Res. Commun. 301 2003 187 191
29. Y. Wang, and G.S. Shadel Stability of the mitochondrial genome requires an amino-terminal domain of yeast mitochondrial RNA polymerase Proc. Natl. Acad. Sci. U. S. A. 96 1999 8046 8051
30. M.S. Rodeheffer Nam1p, a protein involved in RNA processing and translation, is coupled to transcription through an interaction with yeast mitochondrial RNA polymerase J. Biol. Chem. 276 2001 8616 8622
31. A.C. Bryan Sls1p is a membrane-bound regulator of transcription-coupled processes involved in Saccharomyces cerevisiae mitochondrial gene expression Genetics 160 2002 75 82
32. M.S. Rodeheffer, and G.S. Shadel Multiple interactions involving the amino-terminal domain of yeast mtRNA polymerase determine the efficiency of mitochondrial protein synthesis J. Biol. Chem. 278 2003 18695 18701
33. Krause, K. et al. The mitochondrial message-specific mRNA protectors Cbp1 and Pet309 are associated in a high-molecular weight complex. Mol. Biol. Cell (in press)
34. S. Naithani Interactions among COX1, COX2, and COX3 mRNA-specific translational activator proteins on the inner surface of the mitochondrial inner membrane of Saccharomyces cerevisiae Mol. Biol. Cell 14 2003 324 333
35. S. Sastry, and B.M. Ross RNA-binding site in T7 RNA polymerase Proc. Natl. Acad. Sci. U. S. A. 95 1998 9111 9116
36. T.D. Fox Genetics of mitochondrial translation J.W.B. Hershey Translational Control 1996 Cold Spring Harbor Press 733 758
37. M.E. Sanchirico Accumulation of mitochondrially synthesized Saccharomyces cerevisiae Cox2p and Cox3p depends on targeting information in untranslated portions of their mRNAs EMBO J. 17 1998 5796 5804
38. L. Jia Yeast Oxa1 interacts with mitochondrial ribosomes: the importance of the C-terminal region of Oxa1 EMBO J. 22 2003 6438 6447
39. G. Szyrach Ribosome binding to the Oxa1 complex facilitates co-translational protein insertion in mitochondria EMBO J. 22 2003 6448 6457
40. I.D. Small, and N. Peeters The PPR motif - a TPR-related motif prevalent in plant organellar proteins Trends Biochem. Sci. 25 2000 46 47
41. V.K. Mootha Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics Proc. Natl. Acad. Sci. U. S. A. 100 2003 605 610
42. S. Mili, and S. Pinol-Roma LRP130, a pentatricopeptide motif protein with a noncanonical RNA-binding domain, is bound in vivo to mitochondrial and nuclear RNAs Mol. Cell. Biol. 23 2003 4972 4982
43. S. Mili Distinct RNP complexes of shuttling hnRNP proteins with pre-mRNA and mRNA: candidate intermediates in formation and export of mRNA Mol. Cell. Biol. 21 2001 7307 7319
44. J. Ostrowski Heterogeneous nuclear ribonucleoprotein K protein associates with multiple mitochondrial transcripts within the organelle J. Biol. Chem. 277 2002 6303 6310
45. D.A. Clayton Replication and transcription of vertebrate mitochondrial DNA Annu. Rev. Cell Biol. 7 1991 453 478
46. R.P. Fisher Promoter selection in human mitochondria involves binding of a transcription factor to orientation-independent upstream regulatory elements Cell 50 1987 247 258
47. B. Kruse Termination of transcription in human mitochondria: identification and purification of a DNA binding protein factor that promotes termination Cell 58 1989 391 397
48. G. Attardi, and G. Schatz Biogenesis of mitochondria Annu. Rev. Cell Biol. 4 1988 289 333
49. N. Fischel-Ghodsian Mitochondrial deafness mutations reviewed Hum. Mutat. 13 1999 261 270
50. T.R. Prezant Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness Nat. Genet. 4 1993 289 294
51. Y. Bykhovskaya 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
52. Y. Bykhovskaya Candidate locus for a nuclear modifier gene for maternally inherited deafness Am. J. Hum. Genet. 66 2000 1905 1910
53. M.X. Guan Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation Hum. Mol. Genet. 10 2001 573 580
54. T. Hutchin A molecular basis for human hypersensitivity to aminoglycoside antibiotics Nucleic Acids Res. 21 1993 4174 4179
55. K. Hamasaki, and R.R. Rando Specific binding of aminoglycosides to a human rRNA construct based on a DNA polymorphism which causes aminoglycoside-induced deafness Biochemistry 36 1997 12323 12328
56. J.P. Rife, and P.B. Moore The structure of a methylated tetraloop in 16S ribosomal RNA Structure 6 1998 747 756