Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

American Journal of Human Genetics

Volumn 93, Issue 3, 2013, Pages 482-495

  Gai, Xiaowu ^a   Ghezzi, Daniele ^b   Johnson, Mark A ^c   Biagosch, Caroline A ^d,e   Shamseldin, Hanan E ^f   Haack, Tobias B ^d,e   Reyes, Aurelio ^c   Tsukikawa, Mai ^g   Sheldon, Claire A ^g   Srinivasan, Satish ^g   Gorza, Matteo ^d,e   Kremer, Laura S ^d,e   Wieland, Thomas ^d,e   Strom, Tim M ^d,e   Polyak, Erzsebet ^g   Place, Emily ^g,h   Consugar, Mark ⁱ   Ostrovsky, Julian ^g   Vidoni, Sara ^c   Robinson, Alan J ^c   Wong, Lee Jun ⁱ   Sondheimer, Neal ^g   Salih, Mustafa A ^j   Al Jishi, Emtethal ^k   Raab, Christopher P ^l   Bean, Charles ^l   Furlan, Francesca ^m   Parini, Rossella ^m   Lamperti, Costanza ^b   Mayr, Johannes A ⁿ   Konstantopoulou, Vassiliki ^o   Huemer, Martina ^p   Pierce, Eric A ^h   Meitinger, Thomas ^d,e   Freisinger, Peter ^q   Sperl, Wolfgang ⁿ   Prokisch, Holger ^d,e   Alkuraya, Fowzan S ^f,r   Falk, Marni J ^g   Zeviani, Massimo ^b,c   more..

^a LOYOLA UNIVERSITY CHICAGO   (United States)

^b Institute of Neurology Besta   (Italy)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^d TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^e INSTITUTE OF EPIDEMIOLOGY   (Germany)

^f KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^g UNIVERSITY OF PENNSYLVANIA   (United States)

^h HARVARD MEDICAL SCHOOL   (United States)

ⁱ BAYLOR COLLEGE OF MEDICINE   (United States)

^j KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^k ARABIAN GULF UNIVERSITY   (Bahrain)

^l NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^m Ambulatory of Pediatric Clinical Genetics   (Italy)

ⁿ PARACELSUS MEDICAL UNIVERSITY   (Austria)

^o MEDICAL UNIVERSITY OF VIENNA   (Austria)

^p Medical University of Vienna ^*  (Austria)

^q Klinikum Reutlingen   (Germany)

^r ALFAISAL UNIVERSITY   (Saudi Arabia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; MITOCHONDRIAL DNA; MITOCHONDRIAL PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; BRAIN ATROPHY; BRAIN STEM; CELLULAR DISTRIBUTION; CHROMOSOME 6Q; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FBXL4 GENE; GASTROINTESTINAL MOTILITY DISORDER; GENE; GENE STRUCTURE; GENETIC LINKAGE; GRAY MATTER; HUMAN; HUMAN CELL; HUMAN TISSUE; KIDNEY TUBULE ACIDOSIS; LACTIC ACIDEMIA; METABOLIC DISORDER; MISSENSE MUTATION; MITOCHONDRIAL ENCEPHALOPATHY; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OXIDATIVE PHOSPHORYLATION; OXYGEN CONSUMPTION; PRIORITY JOURNAL; SEIZURE; SEQUENCE ANALYSIS; SKELETON MALFORMATION; WHITE MATTER;

AGE OF ONSET; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 6; DNA, COMPLEMENTARY; F-BOX PROTEINS; FEMALE; FIBROBLASTS; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; HEK293 CELLS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MITOCHONDRIA; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MITOCHONDRIAL PROTEINS; MUSCLE, SKELETAL; MUTANT PROTEINS; MUTATION; OXIDATIVE PHOSPHORYLATION; PEDIGREE; PROTEIN TRANSPORT; SUBCELLULAR FRACTIONS; SYNDROME; UBIQUITIN-PROTEIN LIGASES;

EID: 84883780647     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.07.016     Document Type: Article

References (34)

1. E. McCormick, E. Place, and M.J. Falk Molecular genetic testing for mitochondrial disease: from one generation to the next Neurotherapeutics 10 2013 251 261
2. W. Zhang, H. Cui, and L.J. Wong Application of next generation sequencing to molecular diagnosis of inherited diseases Top. Curr. Chem. 2012 10.1007/128-2012-325 Published online May 11, 2012
3. D.J. Pagliarini, S.E. Calvo, B. Chang, S.A. Sheth, S.B. Vafai, S.E. Ong, G.A. Walford, C. Sugiana, A. Boneh, and W.K. Chen A mitochondrial protein compendium elucidates complex I disease biology Cell 134 2008 112 123
4. M. Elstner, C. Andreoli, T. Klopstock, T. Meitinger, and H. Prokisch The mitochondrial proteome database: MitoP2 Methods Enzymol. 457 2009 3 20
5. S.E. Calvo, A.G. Compton, S.G. Hershman, S.C. Lim, D.S. Lieber, E.J. Tucker, A. Laskowski, C. Garone, S. Liu, and D.B. Jaffe Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing Sci. Transl. Med. 4 2012 118ra110
6. H.E. Shamseldin, M. Alshammari, T. Al-Sheddi, M.A. Salih, H. Alkhalidi, A. Kentab, G.M. Repetto, M. Hashem, and F.S. Alkuraya Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes J. Med. Genet. 49 2012 234 241
7. T.B. Haack, K. Danhauser, B. Haberberger, J. Hoser, V. Strecker, D. Boehm, G. Uziel, E. Lamantea, F. Invernizzi, and J. Poulton Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency Nat. Genet. 42 2010 1131 1134
8. A. Spinazzola, C. Viscomi, E. Fernandez-Vizarra, F. Carrara, P. D'Adamo, S. Calvo, R.M. Marsano, C. Donnini, H. Weiher, and P. Strisciuglio MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion Nat. Genet. 38 2006 570 575
9. L. He, P.F. Chinnery, S.E. Durham, E.L. Blakely, T.M. Wardell, G.M. Borthwick, R.W. Taylor, and D.M. Turnbull Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR Nucleic Acids Res. 30 2002 e68
10. D. Dimmock, L.Y. Tang, E.S. Schmitt, and L.J. Wong Quantitative evaluation of the mitochondrial DNA depletion syndrome Clin. Chem. 56 2010 1119 1127
11. I.M. Carr, K.J. Flintoff, G.R. Taylor, A.F. Markham, and D.T. Bonthron Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families Hum. Mutat. 27 2006 1041 1046
12. K. Hoffmann, and T.H. Lindner easyLINKAGE-Plus - automated linkage analyses using large-scale SNP data Bioinformatics 21 2005 3565 3567
13. M.J. Falk, Q. Zhang, E. Nakamaru-Ogiso, C. Kannabiran, Z. Fonseca-Kelly, C. Chakarova, I. Audo, D.S. Mackay, C. Zeitz, and A.D. Borman NMNAT1 mutations cause Leber congenital amaurosis Nat. Genet. 44 2012 1040 1045
14. W. Xing, L. Busino, T.R. Hinds, S.T. Marionni, N.H. Saifee, M.F. Bush, M. Pagano, and N. Zheng SCF(FBXL3) ubiquitin ligase targets cryptochromes at their cofactor pocket Nature 496 2013 64 68
15. B.A. Schulman, A.C. Carrano, P.D. Jeffrey, Z. Bowen, E.R. Kinnucan, M.S. Finnin, S.J. Elledge, J.W. Harper, M. Pagano, and N.P. Pavletich Insights into SCF ubiquitin ligases from the structure of the Skp1-Skp2 complex Nature 408 2000 381 386
16. A. Sali, and T.L. Blundell Comparative protein modelling by satisfaction of spatial restraints J. Mol. Biol. 234 1993 779 815
17. A.M. Waterhouse, J.B. Procter, D.M. Martin, M. Clamp, and G.J. Barton Jalview Version 2 - a multiple sequence alignment editor and analysis workbench Bioinformatics 25 2009 1189 1191
18. V. Tiranti, C. Galimberti, L. Nijtmans, S. Bovolenta, M.P. Perini, and M. Zeviani Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions Hum. Mol. Genet. 8 1999 2533 2540
19. S. Dingley, K.A. Chapman, and M.J. Falk Fluorescence-activated cell sorting analysis of mitochondrial content, membrane potential, and matrix oxidant burden in human lymphoblastoid cell lines Methods Mol. Biol. 837 2012 231 239
20. J.Z. Heckmatt, A. Moosa, C. Hutson, C.A. Maunder-Sewry, and V. Dubowitz Diagnostic needle muscle biopsy. A practical and reliable alternative to open biopsy Arch. Dis. Child. 59 1984 528 532
21. M. Sciacco, and E. Bonilla Cytochemistry and immunocytochemistry of mitochondria in tissue sections Methods Enzymol. 264 1996 509 521
22. M. Bugiani, F. Invernizzi, S. Alberio, E. Briem, E. Lamantea, F. Carrara, I. Moroni, L. Farina, M. Spada, and M.A. Donati Clinical and molecular findings in children with complex I deficiency Biochim. Biophys. Acta 1659 2004 136 147
23. F. Invernizzi, I. D'Amato, P.B. Jensen, S. Ravaglia, M. Zeviani, and V. Tiranti Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells Mitochondrion 12 2012 328 335
24. K. Danhauser, A. Iuso, T.B. Haack, P. Freisinger, K. Brockmann, J.A. Mayr, T. Meitinger, and H. Prokisch Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency Mol. Genet. Metab. 103 2011 161 166
25. V. Petruzzella, V. Tiranti, P. Fernandez, P. Ianna, R. Carrozzo, and M. Zeviani Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain Genomics 54 1998 494 504
26. H.M. Cooper, and J.N. Spelbrink The human SIRT3 protein deacetylase is exclusively mitochondrial Biochem. J. 411 2008 279 285
27. A. Reyes, J. He, C.C. Mao, L.J. Bailey, M. Di Re, H. Sembongi, L. Kazak, K. Dzionek, J.B. Holmes, and T.J. Cluett Actin and myosin contribute to mammalian mitochondrial DNA maintenance Nucleic Acids Res. 39 2011 5098 5108
28. D. Ghezzi, C. Viscomi, A. Ferlini, F. Gualandi, P. Mereghetti, D. DeGrandis, and M. Zeviani Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence Hum. Mol. Genet. 18 2009 1058 1064
29. C. Van Rechem, J.C. Black, T. Abbas, A. Allen, C.A. Rinehart, G.C. Yuan, A. Dutta, and J.R. Whetstine The SKP1-Cul1-F-box and leucine-rich repeat protein 4 (SCF-FbxL4) ubiquitin ligase regulates lysine demethylase 4A (KDM4A)/Jumonji domain-containing 2A (JMJD2A) protein J. Biol. Chem. 286 2011 30462 30470
30. A.R. Willems, M. Schwab, and M. Tyers A hitchhiker's guide to the cullin ubiquitin ligases: SCF and its kin Biochim. Biophys. Acta 1695 2004 133 170
31. M.D. Petroski, and R.J. Deshaies Function and regulation of cullin-RING ubiquitin ligases Nat. Rev. Mol. Cell Biol. 6 2005 9 20
32. J.M. Galan, A. Wiederkehr, J.H. Seol, R. Haguenauer-Tsapis, R.J. Deshaies, H. Riezman, and M. Peter Skp1p and the F-box protein Rcy1p form a non-SCF complex involved in recycling of the SNARE Snc1p in yeast Mol. Cell. Biol. 21 2001 3105 3117
33. N. Nakamura, and S. Hirose Regulation of mitochondrial morphology by USP30, a deubiquitinating enzyme present in the mitochondrial outer membrane Mol. Biol. Cell 19 2008 1903 1911
34. D.P. Narendra, and R.J. Youle Targeting mitochondrial dysfunction: role for PINK1 and Parkin in mitochondrial quality control Antioxid. Redox Signal. 14 2011 1929 1938