The role of the LRPPRC (leucine-rich pentatricopeptide repeal cassette) gene in cytochrome oxidase assembly: Mutation causes lowered levels of COX (cytochrome c oxidase) I and COX III mRNA

Biochemical Journal

Volumn 382, Issue 1, 2004, Pages 331-336

  Xu, Fenghao ^a   Morin, Charles ^b   Mitchell, Grant ^c   Ackerley, Cameron ^d   Robinson, Brian H ^a,e  

^a HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^b CHICOUTIMI HOSPITAL   (Canada)

^c UNIVERSITY OF MONTREAL   (Canada)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

^e UNIVERSITY OF TORONTO   (Canada)

Author keywords

Cytochrome c oxidase I (COX I) and COX III mRNA; Cytochrome oxidase; Leigh syndrome; Leucine rich pentatrico peptide repeat cassette (LRPPRC) protein; Mitochondria

Indexed keywords

IMMUNOFLUORESCENCE MICROSCOPY; MITOCHONDRIA; MUTATIONS;

BIOLOGICAL ORGANS; BRAIN; MUSCLE; PROTEINS; RNA;

GENES;

ALANINE; CYTOCHROME C OXIDASE; MESSENGER RNA; METHIONINE; PROTEIN; PROTEIN LEUCINE RICH PENTATRICOPEPTIDE REPEAT CASSETTE; SULFUR 35; UNCLASSIFIED DRUG;

ARTICLE; CELL LINE; CONTROLLED STUDY; ENZYME ACTIVITY; FIBROBLAST; GENE MUTATION; HEART; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE; LEIGH DISEASE; LIVER MITOCHONDRION; MICROSCOPE; NORTHERN BLOTTING; PLACENTA; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN FUNCTION; PROTEIN MOTIF; SKELETAL MUSCLE; TRANSLATION INITIATION;

AUTOPSY; CELL LINE; CYTOCHROME-C OXIDASE DEFICIENCY; ELECTRON TRANSPORT COMPLEX IV; FIBROBLASTS; HUMANS; LEIGH DISEASE; MITOCHONDRIA, LIVER; MUTATION; NEOPLASM PROTEINS; PROTEIN SUBUNITS; QUEBEC; RNA, MESSENGER;

EID: 4344595430     PISSN: 02646021     EISSN: None     Source Type: Journal    
DOI: 10.1042/BJ20040469     Document Type: Article

References (26)

1. Manthey, G. M. and McEwen, J. E. (1995) The product of the nuclear gene PET309 is required for translation of mature mRNA and stability or production of intron-containing RNAs derived from the mitochondrial COX1 locus of Saccharomyces cerevisiae. EMBO J. 14, 4031-4043
2. Manthey, G. M., Przybyla-Zawislak, B. D. and McEwen, J. E. (1998) The Saccharomyces cerevisiae Pet309 protein is embedded in the mitochondrial inner membrane. Eur. J. Biochem. 255, 156-161
3. Mootha, V. K., Lepage, P., Miller, K., Bunkenborg, J., Reich, M., Hjerrild, M., Delmonte, T., Villeneuve, A., Sladek, R., Xu, F. et al. (2003) Identification of a gene causing human cytochrome c oxidase deficiency by integrate genomics. Proc. Natl. Acad. Sci. U.S.A. 100, 605-610
4. Hou, J., Wang, F. and McKeehan, W. L. (1994) Molecular cloning and expression of the gene for a major leucine-rich protein from human hepatoblastoma cells (HepG2). In Vitro Cell. Dev. Biol. Anim. 30A, 111-114
5. Liu, L. and McKeehan, W. L. (2002) Sequence analysis of LRPPRC and its SEC1 domain interaction partners suggests roles in cytoskeletal organization, vesicular trafficking, nucleocytosolic shuttling, and chromosome activity. Genomics 79, 124-136
6. MacDonald, P. M. and Kerr, K. (1998) Mutational analysis of an RNA recognition element that mediates localization of bicoid mRNA. Mol. Cell. Biol. 18, 3788-3795
7. Milli, S. and Pinol-Roma, S. (2003) LRP130, a pentatricopeptide motif protein with a noncanonical RNA binding domain, is bound in vivo to mitochondrial and nuclear RNAs. Mol. Cell. Biol. 14, 4972-4982
8. Tsuchiya, N., Fukuda, H., Sugimura, T., Nagao, M. and Nakagama, H. (2002) LRP130, a protein containing nine pentatricopeptide repeat motifs, interacts with a single-stranded cytosine-rich sequence of mouse hypervariable minisatellite Pc-1. Eur. J. Biochem. 269, 2927-2933
9. Coffin, J. W., Dhillon, R., Ritzel, R. G. and Nargang, F. E. (1997) The Neurospora crassa cya-5 nuclear gene encodes a protein with a region of homology to the Saccharomyces cerevisiae PET309 protein and is required in a post-transcriptional step for the expression of the mitochondrially encoded COXI protein. Curr. Genet. 32, 273-280
10. Fisk, D. G., Walker, M. B. and Barkan, A. (1999) Molecular cloning of the maize gene crp1 reveals similarity between regulators of mitochondrial and chloroplast gene expression. EMBO J. 18, 2621-2625
11. Mancebo, R., Zhou, X., Shillinglaw, W., Henzel, W. and MacDonald, P. M. (2001) BSF binds specifically to the bicoid mRNA 3′ untranslated region and contributes to stabilization of bicoid mRNA. Mol. Cell. Biol. 21, 3462-3471
12. Morin, C., Mitchell, G., Larochelle, J., Lambert, M., Ogier, H., Robinson, B. H. and DeBraekeleer, M. (1993) Clinical, metabolic and genetic aspects of cytochrome c oxidase deficiency in Saguenay-Lac-Saint-Jean. Am. J. Hum. Genet. 53, 488-496
13. Merante, F., Petrova-Benedict, R., MacKay, N., Mitchell, G., Morin, C., DeBraekeleer, M., Laframboise, R., Gagne, R. and Robinson, B. H. (1993) A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Québec. Am. J. Hum. Genet. 53, 481-487
14. Pitkänen, S., Raha, S. and Robinson, B. H. (1996) Diagnosis of complex 1 deficiency in patients with lactic acidemia using skin fibroblast cultures. Biochem. Mol. Med. 59, 134-137
15. Rickwood, D., Wilson, M. T. and Darley-Usmar, V. M. (eds.) (1987) Isolation and characteristics of intact mitochondria. In Mitochondria: A Practical Approach, pp. 1-16, IRL Press, Oxford
16. McEachern, G., Kassovska-Bratinova, S., Raha, S., Tarnopolsky, M. A., Turnbull, J., Bourgeois, J. and Robinson, B. H. (2000) Manganese superoxide dismutase levels are elevated in a proportion of amyotrophic lateral sclerosis patient cell lines. Biochem. Biophys. Res. Commun. 273, 359-363
17. Chomyn, A. (1996) In vivo labelling and analysis of human mitochondrial translation products. Methods Enzymol. 264, 4197-4211
18. Pari, G., Jardine, K. and McBurney, M. W. (1991) Multiple CArG boxes in the human cardiac actin gene promoter required for expression in embryonic cardiac muscle cells developing in vitro from embryonal carcinoma cells. Mol. Cell. Biol. 11, 4796-4803
19. Shoubridge, E. A. (2001) Cytochrome c oxidase deficiency. Am. J. Med. Genet. 106, 46-52
20. Schon, E. A. (2000) Mitochondrial genetics and disease. Trends Biochem. Sci. 25, 555-556
21. Robinson, B. H. (2000) Human cytochrome oxidase deficiency. Pediatr. Res. 48, 581-585
22. Li, X., Li, R., Lin, X. and Guan, M.-X. (2002) Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12 S rRNA A1555G mutation. J. Biol. Chem. 277, 27256-27264
23. Green-Willms, N. S., Butler, C. A., Dunstan, H. M. and Fox, T. D. (2001) Pet111p, an inner membrane-bound translational activator that limits expression of the Saccharomyces cerevisiae mitochondrial gene COX2. J. Biol. Chem. 276, 6392-6397
24. Costanzo, M. C. and Fox, T. D. (1995) A point mutation in the 5′-untranslated leader that affects translational activation of the mitochondrial COX3 mRNA. Curr. Genet. 28, 60-66
25. Costanzo, M. C., Bonnefoy, N., Williams, E. H., Clark-Walker, G. D. and Fox, T. D. (2000) Highly diverged homologues of Saccharomyces cerevisiae mitochondrial mRNA-specific translational activators have orthologous functions in other budding yeasts. Genetics 154, 999-1012
26. Nagai, K., Oubridge, C., Ito, N., Avis, J. and Evans, P. (1995) The RNP domain: a sequence-specific RNA-binding domain involved in processing and transport of RNA. Trends Biochem. Sci. 20, 235-240