Dispersed disease-causing neomorphic mutations on a single protein promote the same localized conformational opening

Proceedings of the National Academy of Sciences of the United States of America

Volumn 108, Issue 30, 2011, Pages 12307-12312

  He, Weiwei ^a   Zhang, Hui Min ^b   Chong, Yeeting E ^a   Guo, Min ^c   Marshall, Alan G ^b,d   Yang, Xiang Lei ^a  

^a SCRIPPS RESEARCH INSTITUTE   (United States)

^b FLORIDA STATE UNIVERSITY   (United States)

^c SCRIPPS RESEARCH INSTITUTE   (United States)

^d FLORIDA STATE UNIVERSITY   (United States)

Author keywords

Aminoacyl tRNA synthetase; Dimer formation; Hereditary motor and sensory neuropathy

Indexed keywords

DIMER; GLYCINE TRANSFER RNA LIGASE; HELIX LOOP HELIX PROTEIN; MUTANT PROTEIN;

ARTICLE; CRYSTAL STRUCTURE; DEUTERIUM HYDROGEN EXCHANGE; ENZYME CONFORMATION; ENZYME LOCALIZATION; ENZYME STRUCTURE; GAIN OF FUNCTION MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; MASS SPECTROMETRY; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN SYNTHESIS; WILD TYPE; X RAY CRYSTALLOGRAPHY;

AMINO ACID SEQUENCE; BIOPHYSICAL PHENOMENA; CHARCOT-MARIE-TOOTH DISEASE; DEUTERIUM EXCHANGE MEASUREMENT; DIMERIZATION; GLYCINE-TRNA LIGASE; HUMANS; MASS SPECTROMETRY; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION; PROTEIN CONFORMATION; PROTEIN INTERACTION DOMAINS AND MOTIFS; PROTEIN STRUCTURE, QUATERNARY; SCATTERING, SMALL ANGLE; X-RAY DIFFRACTION;

METAZOA;

EID: 79961094170     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1104293108     Document Type: Article

References (31)

1. Patzko A, Shy ME (2011) Update on Charcot-Marie-Tooth disease. Curr Neurol Neurosci Rep 11:78-88.
2. Skre H (1974) Genetic and clinical aspects of Charcot-Marie-Tooths Disease. Clin Genet 6:98-118.
3. Barisic N, et al. (2008) Charcot-Marie-Tooth disease: A clinico-genetic confrontation. Ann Hum Genet 72:416-441.
4. Antonellis A, et al. (2003) Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet 72:1293-1299. (Pubitemid 36530017)
5. Jordanova A, et al. (2006) Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. Nat Genet 38:197-202. (Pubitemid 43177233)
6. Latour P, et al. (2010) 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 86:77-82.
7. McLaughlin HM, et al. (2010) Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. Am J Hum Genet 87:560-566.
8. Ling J, Reynolds N, Ibba M (2009) Aminoacyl-tRNA synthesis and translational quality control. Annu Rev Microbiol 63:61-78.
9. James PA, et al. (2006) Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene. Neurology 67:1710-1712. (Pubitemid 44747957)
10. Abe A, Hayasaka K (2009) The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth neuropathy. J Hum Genet 54:310-312.
11. Motley WW, Talbot K, Fischbeck KH (2010) GARS axonopathy: Not every neuron's cup of tRNA. Trends Neurosci 33:59-66.
12. Seburn KL, Nangle LA, Cox GA, Schimmel P, Burgess RW (2006) An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model. Neuron 51:715-726. (Pubitemid 44374911)
13. Achilli F, et al. (2009) An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot- Marie-Tooth type 2D peripheral neuropathy. Dis Model Mech 2:359-373.
14. Nangle LA, Zhang W, Xie W, Yang XL, Schimmel P (2007) Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect. Proc Natl Acad Sci USA 104:11239-11244. (Pubitemid 47175125)
15. Antonellis A, et al. (2006) Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons. J Neurosci 26:10397-10406. (Pubitemid 44564590)
16. Stum M, et al. (2011) An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations. Mol Cell Neurosci 46:432-443.
17. XieW, Nangle LA, ZhangW, Schimmel P, Yang XL (2007) Long-range structural effects of a Charcot-Marie-Tooth disease-causing mutation in human glycyl-tRNA synthetase. Proc Natl Acad Sci USA 104:9976-9981. (Pubitemid 47175248)
18. Cader MZ, et al. (2007) Crystal structure of human wildtype and S581L-mutant glycyl-tRNA synthetase, an enzyme underlying distal spinal muscular atrophy. FEBS Lett 581:2959-2964. (Pubitemid 46908807)
19. Howlett GJ, Minton AP, Rivas G (2006) Analytical ultracentrifugation for the study of protein association and assembly. Curr Opin Chem Biol 10:430-436. (Pubitemid 44375070)
20. Zhang Z, Smith DL (1993) Determination of amide hydrogen exchange by mass spectrometry: A new tool for protein structure elucidation. Protein Sci 2:522-531. (Pubitemid 23119303)
21. Gajiwala KS, et al. (2009) KIT kinase mutants show unique mechanisms of drug resistance to imatinib and sunitinib in gastrointestinal stromal tumor patients. Proc Natl Acad Sci USA 106:1542-1547.
22. Marshall AG, Hendrickson CL, Jackson GS (1998) Fourier transform ion cyclotron resonance mass spectrometry: A primer. Mass Spectrom Rev 17:1-35. (Pubitemid 128629493)
23. Koch MH, Vachette P, Svergun DI (2003) Small-angle scattering: A view on the properties, structures and structural changes of biological macromolecules in solution. Q Rev Biophys 36:147-227. (Pubitemid 37493573)
24. Guo M, Yang XL, Schimmel P (2010) New functions of aminoacyl-tRNA synthetases beyond translation. Nat Rev Mol Cell Biol 11:668-674.
25. Guo M, Schimmel P, Yang XL (2010) Functional expansion of human tRNA synthetases achieved by structural inventions. FEBS Lett 584:434-442.
26. Siddique T, Nijhawan D, Hentati A (1997) Familial amyotrophic lateral sclerosis. J Neur Tr S 49:219-233. (Pubitemid 27351490)
27. Stathopulos PB, et al. (2003) Cu/Zn superoxide dismutase mutants associated with amyotrophic lateral sclerosis show enhanced formation of aggregates in vitro. Proc Natl Acad Sci USA 100:7021-7026. (Pubitemid 36706386)
28. Ghaemmaghami S, et al. (2003) Global analysis of protein expression in yeast. Nature 425:737-741. (Pubitemid 37314318)
29. Ziegelbauer K (1998) Decreased accumulation or increased isoleucyl-tRNA synthetase activity confers resistance to the cyclic beta-amino acid BAY 10-8888 in Candida albicans and Candida tropicalis. Antimicrob Agents Chemother 42:1581-1586.
30. Zhou Q, et al. (2010) Orthogonal use of a human tRNA synthetase active site to achieve multifunctionality. Nat Struct Mol Biol 17:57-61.
31. Zhang HM, et al. (2008) Enhanced digestion efficiency, peptide ionization efficiency, and sequence resolution for protein hydrogen/deuterium exchange monitored by Fourier transform ion cyclotron resonance mass spectrometry. Anal Chem 80:9034-9041.