Mutations in QARS, encoding glutaminyl-trna synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures

American Journal of Human Genetics

Volumn 94, Issue 4, 2014, Pages 547-558

  Zhang, Xiaochang ^a,b   Ling, Jiqiang ^c,d   Barcia, Giulia ^e,f   Jing, Lili ^b,g   Wu, Jiang ^d   Barry, Brenda J ^a,b   Mochida, Ganeshwaran H ^a,g,h   Hill, R Sean ^a,b   Weimer, Jill M ⁱ   Stein, Quinn ^j   Poduri, Annapurna ^a,g   Partlow, Jennifer N ^a,b   Ville, Dorothée ^k   Dulac, Olivier ^e,f   Yu, Tim W ^a   Lam, Anh Thu N ^a,b   Servattalab, Sarah ^a,b   Rodriguez, Jacqueline ^a,b   Boddaert, Nathalie ^e   Munnich, Arnold ^e   Colleaux, Laurence ^e   Zon, Leonard I ^b,g   Söll, Dieter ^c   Walsh, Christopher A ^a,b,g,l   Nabbout, Rima ^e,f   more..

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c YALE UNIVERSITY   (United States)

^d UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f INSERM   (France)

^g HARVARD MEDICAL SCHOOL   (United States)

^h MASSACHUSETTS GENERAL HOSPITAL   (United States)

ⁱ SANFORD RESEARCH   (United States)

^j UNIVERSITY OF SOUTH DAKOTA   (United States)

^k HOSPICES CIVILS DE LYON   (France)

^l BROAD INSTITUTE OF MIT AND HARVARD   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMINE TRANSFER RNA; GLUTAMINE TRANSFER RNA LIGASE;

AMINOACYLATION; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BRAIN ATROPHY; BRAIN CORTEX; CASE REPORT; CEREBRAL CEREBELLAR ATROPHY; CHILD; FEMALE; GENE; GENE MUTATION; HUMAN; INTRACTABLE EPILEPSY; MALE; MICROCEPHALY; MOLECULAR CLONING; NERVE DEGENERATION; NONHUMAN; PEDIGREE; PRESCHOOL CHILD; PRIORITY JOURNAL; QARS GENE;

DANIO RERIO;

AMINO ACYL-TRNA SYNTHETASES; AMINOACYLATION; ANIMALS; BRAIN DISEASES; CHILD, PRESCHOOL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MICROCEPHALY; MUTATION; PEDIGREE; SEIZURES; ZEBRAFISH;

EID: 84898012564     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.03.003     Document Type: Article

References (41)

1. C.G. Woods, J. Bond, and W. Enard Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings Am. J. Hum. Genet. 76 2005 717 728 (Pubitemid 40563095)
2. A.J. Barkovich, R. Guerrini, R.I. Kuzniecky, G.D. Jackson, and W.B. Dobyns A developmental and genetic classification for malformations of cortical development: update 2012 Brain 135 2012 1348 1369
3. D. Abuelo Microcephaly syndromes Semin. Pediatr. Neurol. 14 2007 118 127 (Pubitemid 350008073)
4. T.L. Megraw, J.T. Sharkey, and R.S. Nowakowski Cdk5rap2 exposes the centrosomal root of microcephaly syndromes Trends Cell Biol. 21 2011 470 480
5. R. Kaufmann, R. Straussberg, H. Mandel, A. Fattal-Valevski, B. Ben-Zeev, A. Naamati, A. Shaag, S. Zenvirt, O. Konen, and A. Mimouni-Bloch et al. Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex Am. J. Hum. Genet. 87 2010 667 670
6. Y. Namavar, P.G. Barth, B.T. Poll-The, and F. Baas Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia Orphanet J. Rare Dis. 6 2011 50
7. B.S. Budde, Y. Namavar, P.G. Barth, B.T. Poll-The, G. Nürnberg, C. Becker, F. van Ruissen, M.A. Weterman, K. Fluiter, and E.T. te Beek et al. tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia Nat. Genet. 40 2008 1113 1118
8. O. Agamy, B. Ben Zeev, D. Lev, B. Marcus, D. Fine, D. Su, G. Narkis, R. Ofir, C. Hoffmann, and E. Leshinsky-Silver et al. Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy Am. J. Hum. Genet. 87 2010 538 544
9. S. Edvardson, A. Shaag, O. Kolesnikova, J.M. Gomori, I. Tarassov, T. Einbinder, A. Saada, and O. Elpeleg Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia Am. J. Hum. Genet. 81 2007 857 862 (Pubitemid 47596554)
10. M. Ibba, and D. Söll Aminoacyl-tRNA synthesis Annu. Rev. Biochem. 69 2000 617 650
11. J. Ling, N. Reynolds, and M. Ibba Aminoacyl-tRNA synthesis and translational quality control Annu. Rev. Microbiol. 63 2009 61 78
12. A. Nagao, T. Suzuki, T. Katoh, Y. Sakaguchi, and T. Suzuki Biogenesis of glutaminyl-mt tRNAGln in human mitochondria Proc. Natl. Acad. Sci. USA 106 2009 16209 16214
13. A. Antonellis, R.E. Ellsworth, N. Sambuughin, I. Puls, A. Abel, S.Q. Lee-Lin, A. Jordanova, I. Kremensky, K. Christodoulou, and L.T. Middleton et al. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V Am. J. Hum. Genet. 72 2003 1293 1299 (Pubitemid 36530017)
14. A. Antonellis, and E.D. Green The role of aminoacyl-tRNA synthetases in genetic diseases Annu. Rev. Genomics Hum. Genet. 9 2008 87 107
15. R.J. Taft, A. Vanderver, R.J. Leventer, S.A. Damiani, C. Simons, S.M. Grimmond, D. Miller, J. Schmidt, P.J. Lockhart, and K. Pope et al. Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity Am. J. Hum. Genet. 92 2013 774 780
16. P. Yao, and P.L. Fox Aminoacyl-tRNA synthetases in medicine and disease EMBO Mol Med 5 2013 332 343
17. L.G. Riley, S. Cooper, P. Hickey, J. Rudinger-Thirion, M. McKenzie, A. Compton, S.C. Lim, D. Thorburn, M.T. Ryan, and R. Giegé et al. Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia - MLASA syndrome Am. J. Hum. Genet. 87 2010 52 59
18. S.B. Pierce, K.M. Chisholm, E.D. Lynch, M.K. Lee, T. Walsh, J.M. Opitz, W. Li, R.E. Klevit, and M.C. King Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome Proc. Natl. Acad. Sci. USA 108 2011 6543 6548
19. S.B. Pierce, K. Gersak, R. Michaelson-Cohen, T. Walsh, M.K. Lee, D. Malach, R.E. Klevit, M.C. King, and E. Levy-Lahad Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome Am. J. Hum. Genet. 92 2013 614 620
20. V. Bayat, I. Thiffault, M. Jaiswal, M. Tétreault, T. Donti, F. Sasarman, G. Bernard, J. Demers-Lamarche, M.J. Dicaire, and J. Mathieu et al. Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans PLoS Biol. 10 2012 e1001288
21. D. Cassandrini, M.R. Cilio, M. Bianchi, M. Doimo, M. Balestri, A. Tessa, T. Rizza, G. Sartori, M.C. Meschini, and C. Nesti et al. Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients J. Inherit. Metab. Dis. 36 2013 43 53
22. A. Jordanova, J. Irobi, F.P. Thomas, P. Van Dijck, K. Meerschaert, M. Dewil, I. Dierick, A. Jacobs, E. De Vriendt, and V. Guergueltcheva et al. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy Nat. Genet. 38 2006 197 202 (Pubitemid 43177233)
23. P. Latour, C. Thauvin-Robinet, C. Baudelet-Méry, P. Soichot, V. Cusin, L. Faivre, M.C. Locatelli, M. Mayençon, A. Sarcey, and E. Broussolle et al. A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease Am. J. Hum. Genet. 86 2010 77 82
24. H.M. McLaughlin, R. Sakaguchi, C. Liu, T. Igarashi, D. Pehlivan, K. Chu, R. Iyer, P. Cruz, P.F. Cherukuri, N.F. Hansen NISC Comparative Sequencing Program Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy Am. J. Hum. Genet. 87 2010 560 566
25. R.L. Santos-Cortez, K. Lee, Z. Azeem, P.J. Antonellis, L.M. Pollock, S. Khan, Irfanullah, P.B. Andrade-Elizondo, I. Chiu, M.D. Adams University of Washington Center for Mendelian Genomics Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89 Am. J. Hum. Genet. 93 2013 132 140
26. T. Chihara, D. Luginbuhl, and L. Luo Cytoplasmic and mitochondrial protein translation in axonal and dendritic terminal arborization Nat. Neurosci. 10 2007 828 837 (Pubitemid 47013428)
27. T.W. Yu, G.H. Mochida, D.J. Tischfield, S.K. Sgaier, L. Flores-Sarnat, C.M. Sergi, M. Topçu, M.T. McDonald, B.J. Barry, and J.M. Felie et al. Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture Nat. Genet. 42 2010 1015 1020
28. E. Harlow, and D. Lane Using Antibodies: A Laboratory Manual 1998 Cold Spring Harbor Laboratory Press Cold Spring Harbor
29. A. Amsterdam, R.M. Nissen, Z. Sun, E.C. Swindell, S. Farrington, and N. Hopkins Identification of 315 genes essential for early zebrafish development Proc. Natl. Acad. Sci. USA 101 2004 12792 12797 (Pubitemid 39167537)
30. G. Barcia, M.R. Fleming, A. Deligniere, V.R. Gazula, M.R. Brown, M. Langouet, H. Chen, J. Kronengold, A. Abhyankar, and R. Cilio et al. De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy Nat. Genet. 44 2012 1255 1259
31. M. Kaminska, S. Havrylenko, P. Decottignies, S. Gillet, P. Le Maréchal, B. Negrutskii, and M. Mirande Dissection of the structural organization of the aminoacyl-tRNA synthetase complex J. Biol. Chem. 284 2009 6053 6060
32. M.T. Norcum, and J.A. Warrington Structural analysis of the multienzyme aminoacyl-tRNA synthetase complex: a three-domain model based on reversible chemical crosslinking Protein Sci. 7 1998 79 87 (Pubitemid 28133748)
33. T.D. Grant, E.H. Snell, J.R. Luft, E. Quartley, S. Corretore, J.R. Wolfley, M.E. Snell, A. Hadd, J.J. Perona, E.M. Phizicky, and E.J. Grayhack Structural conservation of an ancient tRNA sensor in eukaryotic glutaminyl-tRNA synthetase Nucleic Acids Res. 40 2012 3723 3731
34. S.A. Fietz, R. Lachmann, H. Brandl, M. Kircher, N. Samusik, R. Schröder, N. Lakshmanaperumal, I. Henry, J. Vogt, and A. Riehn et al. Transcriptomes of germinal zones of human and mouse fetal neocortex suggest a role of extracellular matrix in progenitor self-renewal Proc. Natl. Acad. Sci. USA 109 2012 11836 11841
35. J. Bond, E. Roberts, G.H. Mochida, D.J. Hampshire, S. Scott, J.M. Askham, K. Springell, M. Mahadevan, Y.J. Crow, and A.F. Markham et al. ASPM is a major determinant of cerebral cortical size Nat. Genet. 32 2002 316 320
36. I. Gruic-Sovulj, N. Uter, T. Bullock, and J.J. Perona tRNA-dependent aminoacyl-adenylate hydrolysis by a nonediting class I aminoacyl-tRNA synthetase J. Biol. Chem. 280 2005 23978 23986 (Pubitemid 40884886)
37. S.B. Rho, M.J. Kim, J.S. Lee, W. Seol, H. Motegi, S. Kim, and K. Shiba Genetic dissection of protein-protein interactions in multi-tRNA synthetase complex Proc. Natl. Acad. Sci. USA 96 1999 4488 4493 (Pubitemid 29190363)
38. Gln) and ATP at 2.8 A resolution Science 246 1989 1135 1142 (Pubitemid 20012769)
39. S.W. Ludmerer, D.J. Wright, and P. Schimmel Purification of glutamine tRNA synthetase from Saccharomyces cerevisiae. A monomeric aminoacyl-tRNA synthetase with a large and dispensable NH2-terminal domain J. Biol. Chem. 268 1993 5519 5523 (Pubitemid 23090871)
40. M. Kaminska, S. Havrylenko, P. Decottignies, P. Le Maréchal, B. Negrutskii, and M. Mirande Dynamic Organization of Aminoacyl-tRNA Synthetase Complexes in the Cytoplasm of Human Cells J. Biol. Chem. 284 2009 13746 13754
41. Y.G. Ko, E.Y. Kim, T. Kim, H. Park, H.S. Park, E.J. Choi, and S. Kim Glutamine-dependent antiapoptotic interaction of human glutaminyl-tRNA synthetase with apoptosis signal-regulating kinase 1 J. Biol. Chem. 276 2001 6030 6036