Mitochondrial localization and ocular expression of mutant Opa3 in a mouse model of 3-Methylglutaconicaciduria type III

Investigative Ophthalmology and Visual Science

Volumn 52, Issue 7, 2011, Pages 4369-4380

  Powell, Kate A ^a   Davies, Jennifer R ^a   Taylor, Elaine ^a   Wride, Michael A ^b   Votruba, Marcela ^a,c  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b TRINITY COLLEGE DUBLIN   (Ireland)

^c UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

3 METHYLGLUTACONIC ACID; EYE PROTEIN; MESSENGER RNA; OPA 3 PROTEIN; OPA 3A PROTEIN; OPA 3B PROTEIN; UNCLASSIFIED DRUG; DNA; OPA3 PROTEIN, MOUSE; PROTEIN;

ACIDURIA; ALTERNATIVE RNA SPLICING; ANIMAL CELL; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BIOINFORMATICS; CONTROLLED STUDY; EMBRYO; EMBRYO DEVELOPMENT; EXON; EYE; GENE EXPRESSION; HISTOLOGY; IMMUNOFLUORESCENCE TEST; IMMUNOHISTOCHEMISTRY; LENS; MITOCHONDRION; MOUSE; MOUSE MUTANT; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN LOCALIZATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TRANSMISSION ELECTRON MICROSCOPY; WESTERN BLOTTING; ANIMAL; CHOREA; COMPARATIVE STUDY; DISEASE MODEL; ELECTRON MICROSCOPY; GENE EXPRESSION REGULATION; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; METABOLISM; MUTATION; NEWBORN; OPTIC NERVE ATROPHY; PATHOLOGY; POLYMERASE CHAIN REACTION; ULTRASTRUCTURE;

ANIMALS; ANIMALS, NEWBORN; BLOTTING, WESTERN; CHOREA; DISEASE MODELS, ANIMAL; DNA; GENE EXPRESSION REGULATION, DEVELOPMENTAL; IMMUNOHISTOCHEMISTRY; LENS, CRYSTALLINE; MICE; MICROSCOPY, ELECTRON; MITOCHONDRIA; MUTATION; OPTIC ATROPHY; POLYMERASE CHAIN REACTION; PROTEINS; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 80052386353     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.10-6406     Document Type: Article

References (25)

1. Alexander C, Votruba M, Pesch UE, et al. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet. 2000;26:211-215.
2. Delettre C, Lenaers G, Griffoin JM, et al. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet. 2000;26:207-210.
3. Garcin RP, Raverdy S, Delthil R, et al. Sur une affection heredofamiliale associant catarate, atrophie optique, signes extra-pyramidaux et certains stigmates de la maladie de Friedreich. (Sa position nosologique par rapport au syndrome de Behr, au syndrome de Marinesco-Sjogren et a la maladie de Friedreich avec signes oculaires.). Rev Neurol. 1961;104:373-379.
4. Reynier P, Amati-Bonneau P, Verny C, et al. OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. J Med Genet. 2004;41:e110.
5. Ferré M, Bonneau D, Milea D, et al. Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. Hum Mutat. 2009;30:E692-E705.
6. Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O. type III 3-Methylglutaconic aciduria (Optic Atrophy Plus Syndrome, or Costeff Optic Atrophy Syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am J Hum Genet. 2001;69:1218-1224.
7. Costeff H, Gadoth N, Apter N, Prialnic M, Savir H. A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia. Neurology. 1989;39:595-597.
8. Kleta R, Skovby F, Christensen E, Rosenberg T, Gahl WA, Anikster Y. 3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings. Mol Genet Metab. 2002;76:201-206.
9. Ho G, Walter JH, Christodoulou J. Costeff optic atrophy syndrome: new clinical case and novel molecular findings. J Inherit Metab Dis. Published online November 7, 2008.
10. Huizing M, Dorward H, Ly L, et al. OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. Mol Genet Metab. 2010;100:149-154.
11. Gould S, Keller GA, Hoskenm N, Wilkinson J, Subramani S. A conserved tripeptide sorts proteins to peroxisomes. J Cell Biol. 1989;108:1657-1664.
12. Da Cruz S, Xenarios I, Langridge J, Vilbois F, Parone PA, Martinou JC. Proteomic analysis of the mouse liver inner mitochondrial membrane. J Biol Chem. 2003;278:41566-41571.
13. Ryu SW, Jeong HJ, Choi M, Karbowski M, Choi C. Optic atrophy 3 as a protein of the mitochondrial outer membrane induces mitochondrial fragmentation. Cell Mol Life Sci. 2010;67:2839-2850.
14. Chevrollier A, Guillet D, Loiseau D, et al. Hereditary optic neuropathies share a common mitochondrial coupling defect. Ann Neurol. 2008;63:794-798.
15. Pei W, Kratz LE, Bernardini I, et al. A model of Costeff syndrome reveals metabolic and protective functions of mitochondrial OPA3. Development. 2010;137:2587-2596.
16. Davies VJ, Powell KA, White KE, et al. A missense mutation in the murine Opa3 gene models human Costeff syndrome. Brain. 2008;131:368-380.
17. Thompson JD, Higgins GD, Gibson TJ. CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Res. 1994;22:4673-4680.
18. Livak KJ, Schmittgen TD. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta c(T) method. Methods (San Diego, Calif). 2001;25:402-408.
19. Ovcharenko I, Loots GG, Giardine BM, et al. Mulan: multiplesequence local alignment and visualization for studying function and evolution. Genome Res. 2005;15:184-194.
20. Pennacchio LA, Rubin EM. Genomic strategies to identify mammalian regulatory sequences. Nat Rev Genet. 2001;2:100-109.
21. Quandt K, Frech K, Karas H, Wingender E, Werner T. MatInd and MatInspector: new fast and versatile tools for detection of consensus matches in nucleotide sequence data. Nucleic Acids Res. 1995;23:4878-4884.
22. Hubbard TJP, Aken BL, Beal K, et al. Ensembl 2007. Nucleic Acids Res. 2007;35:D610-D617.
23. Viteri G, Carrard G, Birlouez-Aragón I, Silva E, Friguet B. Agedependent protein modifications and declining proteasome activity in the human lens. Arch Biochem Biophys. 2004;427:197-203.
24. Wride MA. Proteases in the development and diseases of the lens. Expert Rev Ophthalmol (Future Drugs Network). 2007;2:833-844.
25. Owczarek-Lipska M, Plattet P, Zipperle L, et al. A nonsense mutation in the optic atrophy 3 gene (OPA3) causes dilated cardiomyopathy in Red Holstein cattle. Genomics. 2011;97:51-57.