The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity

Journal of Biological Chemistry

Volumn 286, Issue 46, 2011, Pages 40246-40254

  Orebaugh, Clinton D ^a   Fye, Jason M ^a   Harvey, Scott ^a   Hollis, Thomas ^a   Perrino, Fred W ^a  

^a WAKE FOREST SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVE SITE; ASPARTATES; AUTOIMMUNE DISEASE; BIOCHEMICAL DATA; DEGRADATION ACTIVITY; DIMER INTERFACE; DIMERIC STRUCTURE; DNA DEGRADATION; DOUBLE-STRANDED DNA (DS-DNA); EXONUCLEASE; EXONUCLEASE ACTIVITY; HETERODIMERS; HOMODIMERS; IMMUNE ACTIVATION; SINGLE-STRANDED DNA (SS-DNA); SYSTEMIC LUPUS ERYTHEMATOSUS;

AMINO ACIDS; DEGRADATION; GENES;

DNA;

ALANINE; ASPARTIC ACID; DOUBLE STRANDED DNA; EXONUCLEASE; HETERODIMER; PROTEIN TREX1; SINGLE STRANDED DNA; UNCLASSIFIED DRUG;

AICARDI GOUTIERES SYNDROME; ARTICLE; CATALYSIS; CONTROLLED STUDY; DNA DEGRADATION; ENZYME ACTIVITY; GENE; GENE INSERTION; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN STRUCTURE; SYSTEMIC LUPUS ERYTHEMATOSUS; TREX1 GENE;

AMINO ACID SUBSTITUTION; AUTOIMMUNE DISEASES OF THE NERVOUS SYSTEM; DNA, SINGLE-STRANDED; EXODEOXYRIBONUCLEASES; HUMANS; LUPUS ERYTHEMATOSUS, SYSTEMIC; MUTATION, MISSENSE; NERVOUS SYSTEM MALFORMATIONS; PHOSPHOPROTEINS; PROMOTER REGIONS, GENETIC; PROTEIN MULTIMERIZATION; PROTEIN STRUCTURE, QUATERNARY; RECOMBINANT PROTEINS; STRUCTURE-ACTIVITY RELATIONSHIP; SUBSTRATE SPECIFICITY;

EID: 81155154298     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M111.297903     Document Type: Article

References (28)

1. Höss, M., Robins, P., Naven, T. J., Pappin, D. J., Sgouros, J., and Lindahl, T. (1999) EMBO J. 18, 3868-3875
2. Mazur, D. J., and Perrino, F. W. (1999) J. Biol. Chem. 274, 19655-19660
3. Mazur, D. J., and Perrino, F. W. (2001) J. Biol. Chem. 276, 17022-17029
4. Mazur, D. J., and Perrino, F. W. (2001) J. Biol. Chem. 276, 14718-14727
5. Morita, M., Stamp, G., Robins, P., Dulic, A., Rosewell, I., Hrivnak, G., Daly, G., Lindahl, T., and Barnes, D. E. (2004) Mol. Cell. Biol. 24, 6719-6727
6. Stetson, D. B., Ko, J. S., Heidmann, T., and Medzhitov, R. (2008) Cell 134, 587-598
7. Yang, Y. G., Lindahl, T., and Barnes, D. E. (2007) Cell 131, 873-886
8. Crow, Y. J., Hayward, B. E., Parmar, R., Robins, P., Leitch, A., Ali, M., Black, D. N., van Bokhoven, H., Brunner, H. G., Hamel, B. C., Corry, P. C., Cowan, F. M., Frints, S. G., Klepper, J., Livingston, J. H., Lynch, S. A., Massey, R. F., Meritet, J. F., Michaud, J. L., Ponsot, G., Voit, T., Lebon, P., Bonthron, D. T., Jackson, A. P., Barnes, D. E., and Lindahl, T. (2006) Nat. Genet. 38, 917-920
9. Rice, G., Patrick, T., Parmar, R., Taylor, C. F., Aeby, A., Aicardi, J., Artuch, R., Montalto, S. A., Bacino, C. A., Barroso, B., Baxter, P., Benko, W. S., Bergmann, C., Bertini, E., Biancheri, R., Blair, E. M., Blau, N., Bonthron, D. T., Briggs, T., Brueton, L. A., Brunner, H. G., Burke, C. J., Carr, I. M., Carvalho, D. R., Chandler, K. E., Christen, H. J., Corry, P. C., Cowan, F. M., Cox, H., D'Arrigo, S., Dean, J., De Laet, C., De Praeter, C., Dery, C., Ferrie, C. D., Flintoff, K., Frints, S. G., Garcia-Cazorla, A., Gener, B., Goizet, C., Goutieres, F., Green, A. J., Guet, A., Hamel, B. C., Hayward, B. E., Heiberg, A., Hennekam, R. C., Husson, M., Jackson, A. P., Jayatunga, R., Jiang, Y. H., Kant, S. G., Kao, A., King, M. D., Kingston, H. M., Klepper, J., van der Knaap, M. S., Kornberg, A. J., Kotzot, D., Kratzer, W., Lacombe, D., Lagae, L., Landrieu, P. G., Lanzi, G., Leitch, A., Lim, M. J., Livingston, J. H., Lourenco, C. M., Lyall, E. G., Lynch, S. A., Lyons, M. J., Marom, D., Mc- Clure, J. P., McWilliam, R., Melancon, S. B., Mewasingh, L. D., Moutard, M. L., Nischal, K. K., Ostergaard, J. R., Prendiville, J., Rasmussen, M., Rogers, R. C., Roland, D., Rosser, E. M., Rostasy, K., Roubertie, A., Sanchis, A., Schiffmann, R., Scholl-Burgi, S., Seal, S., Shalev, S. A., Corcoles, C. S., Sinha, G. P., Soler, D., Spiegel, R., Stephenson, J. B., Tacke, U., Tan, T. Y., Till, M., Tolmie, J. L., Tomlin, P., Vagnarelli, F., Valente, E. M., Van Coster, R. N., Van der Aa, N., Vanderver, A., Vles, J. S., Voit, T., Wassmer, E., Weschke, B., Whiteford, M. L., Willemsen, M. A., Zankl, A., Zuberi, S. M., Orcesi, S., Fazzi, E., Lebon, P., and Crow, Y. J. (2007) Am. J. Hum. Genet. 81, 713-725
10. Lee-Kirsch, M. A., Chowdhury, D., Harvey, S., Gong, M., Senenko, L., Engel, K., Pfeiffer, C., Hollis, T., Gahr, M., Perrino, F. W., Lieberman, J., and Hubner, N. (2007) J. Mol. Med. 85, 531-537
11. Rice, G., Newman, W. G., Dean, J., Patrick, T., Parmar, R., Flintoff, K., Robins, P., Harvey, S., Hollis, T., O'Hara, A., Herrick, A. L., Bowden, A. P., Perrino, F. W., Lindahl, T., Barnes, D. E., and Crow, Y. J. (2007) Am. J. Hum. Genet. 80, 811-815
12. Richards, A., van den Maagdenberg, A. M., Jen, J. C., Kavanagh, D., Bertram, P., Spitzer, D., Liszewski, M. K., Barilla-Labarca, M. L., Terwindt, G. M., Kasai, Y., McLellan, M., Grand, M. G., Vanmolkot, K. R., de Vries, B., Wan, J., Kane, M. J., Mamsa, H., Schäfer, R., Stam, A. H., Haan, J., de Jong, P. T., Storimans, C. W., van Schooneveld, M. J., Oosterhuis, J. A., Gschwendter, A., Dichgans, M., Kotschet, K. E., Hodgkinson, S., Hardy, T. A., Delatycki, M. B., Hajj-Ali, R. A., Kothari, P. H., Nelson, S. F., Frants, R. R., Baloh, R. W., Ferrari, M. D., and Atkinson, J. P. (2007) Nat. Genet. 39, 1068-1070
13. Lee-Kirsch, M. A., Gong, M., Chowdhury, D., Senenko, L., Engel, K., Lee, Y. A., de Silva, U., Bailey, S. L., Witte, T., Vyse, T. J., Kere, J., Pfeiffer, C., Harvey, S., Wong, A., Koskenmies, S., Hummel, O., Rohde, K., Schmidt, R. E., Dominiczak, A. F., Gahr, M., Hollis, T., Perrino, F. W., Lieberman, J., and Hübner, N. (2007) Nat. Genet. 39, 1065-1067
14. Namjou, B., Kothari, P. H., Kelly, J. A., Glenn, S. B., Ojwang, J. O., Adler, A., Alarcón-Riquelme, M. E., Gallant, C. J., Boackle, S. A., Criswell, L. A., Kimberly, R. P., Brown, E., Edberg, J., Stevens, A. M., Jacob, C. O., Tsao, B. P., Gilkeson, G. S., Kamen, D. L., Merrill, J. T., Petri, M., Goldman, R. R., Vila, L. M., Anaya, J. M., Niewold, T. B., Martin, J., Pons-Estel, B. A., Sabio, J. M., Callejas, J. L., Vyse, T. J., Bae, S. C., Perrino, F. W., Freedman, B. I., Scofield, R. H., Moser, K. L., Gaffney, P. M., James, J. A., Langefeld, C. D., Kaufman, K. M., Harley, J. B., and Atkinson, J. P. (2011) Genes Immun. 12, 270-279
15. Kavanagh, D., Spitzer, D., Kothari, P. H., Shaikh, A., Liszewski, M. K., Richards, A., and Atkinson, J. P. (2008) Cell Cycle 7, 1718-1725
16. Kolivras, A., Aeby, A., Crow, Y. J., Rice, G. I., Sass, U., and André, J. (2008) J. Cutan. Pathol. 35, 774-778
17. Crow, Y. J., and Rehwinkel, J. (2009) Hum. Mol. Genet. 18, R130-136
18. Ramantani, G., Kohlhase, J., Hertzberg, C., Innes, A. M., Engel, K., Hunger, S., Borozdin, W., Mah, J. K., Ungerath, K., Walkenhorst, H., Richardt, H. H., Buckard, J., Bevot, A., Siegel, C., von Stülpnagel, C., Ikonomidou, C., Thomas, K., Proud, V., Niemann, F., Wieczorek, D., Häusler, M., Niggemann, P., Baltaci, V., Conrad, K., Lebon, P., and Lee-Kirsch, M. A. (2010) Arthritis Rheum. 62, 1469-1477
19. Perrino, F. W., Harvey, S., McMillin, S., and Hollis, T. (2005) J. Biol. Chem. 280, 15212-15218
20. de Silva, U., Choudhury, S., Bailey, S. L., Harvey, S., Perrino, F. W., and Hollis, T. (2007) J. Biol. Chem. 282, 10537-10543
21. Parra, D., Manils, J., Castellana, B., Viña-Vilaseca, A., Morán-Salvador, E., Vázquez-Villoldo, N., Tarancón, G., Borràs, M., Sancho, S., Benito, C., Ortega, S., and Soler, C. (2009) Cancer Res. 69, 6676-6684
22. Chowdhury, D., Beresford, P. J., Zhu, P., Zhang, D., Sung, J. S., Demple, B., Perrino, F. W., and Lieberman, J. (2006) Mol. Cell 23, 133-142
23. Lehtinen, D. A., Harvey, S., Mulcahy, M. J., Hollis, T., and Perrino, F. W. (2008) J. Biol. Chem. 283, 31649-31656
24. Günther, C., Meurer, M., Stein, A., Viehweg, A., and Lee-Kirsch, M. A. (2009) Dermatology 219, 162-166
25. Haaxma, C. A., Crow, Y. J., van Steensel, M. A., Lammens, M. M., Rice, G. I., Verbeek, M. M., and Willemsen, M. A. (2010) Am. J. Med. Genet. A 152A, 2612-2617
26. Fye, J. M., Orebaugh, C. D., Coffin, S. R., Hollis, T., and Perrino, F. W. (2011) J. Biol. Chem. 286, 32373-32382
27. Higuchi, R. (1990) PCR Protocols: A Guide to Methods and Applications, Academic Press, San Diego
28. Perrino, F. W., Miller, H., and Ealey, K. A. (1994) J. Biol. Chem. 269, 16357-16363