Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX

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

Volumn 104, Issue 29, 2007, Pages 11939-11944

  Argentaro, Anthony ^b   Yang, Ji Chun ^a   Chapman, Lynda ^a   Kowalczyk, Monika S ^b   Gibbons, Richard J ^b   Higgs, Douglas R ^b   Neuhaus, David ^a   Rhodes, Daniela ^a  

^a MRC LABORATORY OF MOLECULAR BIOLOGY   (United Kingdom)

^b JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

ATR X syndrome; NMR structure; Zinc finger

Indexed keywords

HOMEODOMAIN PROTEIN; MUTANT PROTEIN; PROTEIN; PROTEIN ATRX; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN;

ALPHA HELIX; ARTICLE; CARBOXY TERMINAL SEQUENCE; CHROMATIN; HUMAN; NONHUMAN; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; POINT MUTATION; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DOMAIN; PROTEIN INTERACTION; PROTEIN STRUCTURE; STRUCTURE ANALYSIS; X LINKED MENTAL RETARDATION;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CELL TRANSFORMATION, VIRAL; CHROMATIN; DNA HELICASES; ELECTROSTATICS; HERPESVIRUS 4, HUMAN; HUMANS; LYMPHOCYTES; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; NUCLEAR MAGNETIC RESONANCE, BIOMOLECULAR; NUCLEAR PROTEINS; POINT MUTATION; PROTEIN STRUCTURE, SECONDARY; PROTEIN STRUCTURE, TERTIARY; SEQUENCE ALIGNMENT; STRUCTURE-ACTIVITY RELATIONSHIP; SURFACE PROPERTIES;

EID: 34547542492     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.0704057104     Document Type: Article

References (28)

1. Weatherall DJ, Higgs DR, Bunch C, Old JM, Hunt DM, Pressley L, Clegg JB, Bethlenfalvay NC, Sjolin S, Koler RD, et al. (1981) N Engl J Med 305:607-612.
2. Gibbons RJ, Picketts DJ, Villard L, Higgs DR (1995) Cell 80:837-845.
3. Garrick D, Sharpe JA, Arkell R, Dobbie L, Smith AJH, Wood WG, Higgs DR, Gibbons RJ (2006) PLoS Genet 2:438-450.
4. Gibbons RJ, Pellagatti A, Garrick D, Wood WG, Malik N, Ayyub H, Langford C, Boultwood J, Wainscoat JS, Higgs DR (2003) Nat Genet 34:446-449.
5. McDowell TL, Gibbons RJ, Sutherland H, O'Rourke DM, Bickmore WA, Pombo A, Turley H, Gatter K, Picketts DJ, Buckle VJ, et al. (1999) Proc Natl Acad Sci USA 96:13983-13988.
6. Xue YT, Gibbons R, Yan ZJ, Yang DF, McDowell TL, Sechi S, Qin J, Zhou SL, Higgs D, Wang WD (2003) Proc Natl Acad Sci USA 100:10635-10640.
7. Gibbons RJ, Wada T (2004) in Molecular Basis of Inborn Errors of Development, eds Epstein C, Erickson R, Wynshaw-Boris A (Oxford Univ Press, London), pp 747-757.
8. Gibbons RJ, Bachoo S, Picketts DJ, Aftimos S, Asenbauer B, Bergoffen J, Berry SA, Dahl N, Fryer A, Keppler K, et al. (1997) Nat Genet 17:146-148.
9. Lu X, Meng X, Morris CA, Keating MT (1998) Genomics 54:241-249.
10. Nagamine K, Peterson P, Scott HS, Kudoh J, Minoshima S, Heino M, Krohn KJ, Lalioti MD, Mullis PE, Antonarakis SE, et al. (1997) Nat Genet 17:393-398.
11. Bienz M (2006) Trends Biochem Sci 31:35-40.
12. Xie S, Wang Z, Okano M, Nogami M, Li Y, He WW, Okumura K, Li E (1999) Gene 236:87-95.
13. Aapola U, Shibuya K, Scott HS, Ollila J, Vihinen M, Heino M, Shintani A, Kawasaki K, Minoshima S, Krohn K, et al. (2000) Genomics 65:293-298.
14. Gibbons RJ, McDowell TL, Raman S, O'Rourke DM, Garrick D, Ayyub H, Higgs DR (2000) Nat Genet 24:368-371.
15. Omichinski JG, Clore GM, Schaad O, Felsenfeld G, Trainor C, Appella E, Stahl SJ, Gronenborn AM (1993) Science 261:438-446.
16. Pascual J, Martinez-Yamout M, Dyson HJ, Wright PE (2000) J Mol Biol 304:723-729.
17. Kowalski K, Czolij R, King GF, Crossley M, Mackay JP (1999) J Biomol NMR 13:249-262.
18. Berg J (1988) Proc Natl Acad Sci USA 85:99-102.
19. Dodd RB, Allen MD, Brown SE, Sanderson CM, Duncan LM, Lehner PJ, Bycroft M, Read RJ (2004) J Biol Chem 279:53840-53847.
20. Liew CK, Simpson RJY, Kwan AHY, Crofts LA, Loughlin FE, Matthews JM, Crossley M, Mackay JP (2005) Proc Natl Acad Sci USA 102:583-588.
21. Joerger AC, Ang HC, Fersht AR (2006) Proc Natl Acad Sci USA 103:15056-15061.
22. Capili AD, Schultz DC, Rauscher FJI, Borden KL (2001) EMBO J 20:165-177.
23. Cardoso C, Lutz Y, Mignon C, Compe E, Depetris D, Mattei MG, Fontes M, Colleaux L (2000) J Med Genet 37:746-751.
24. Court R, Chapman L, Fairall L, Rhodes D (2005) EMBO Rep 6:39-45.
25. Fletcher CM, Jones DNM, Diamond R, Neuhaus D (1996) J Biomol NMR 8:292-310.
26. Heid CA, Stevens J, Livak KJ, Williams PM (1996) Genome Res 6:986-994.
27. Harlow E, Lane D (1988) Antibodies: A Laboratory Manual (Cold Spring Harbor Lab Press, Cold Spring Harbor, NY).
28. Elkin SK, Ivanov D, Ewalt M, Ferguson CG, Hyberts SG, Sun Z-YJ, Prestwich GD, Yuan J, Wagner G, Oettinger MA, et al. (2005) J Biol Chem 280:28701-28710.