Characterization of a Non-UBA domain missense mutation of sequestosome 1 (SQSTM1) in paget's disease of bone

Journal of Bone and Mineral Research

Volumn 24, Issue 4, 2009, Pages 632-642

  Najat, Dereen ^b   Garner, Thomas ^b   Hagen, Thilo ^b   Shaw, Barry ^b   Sheppard, Paul W ^c   Falchetti, Alberto ^d   Marini, Francesca ^d   Brandi, Maria L ^d   Long, Jed E ^b   Cavey, James R ^b   Searle, Mark S ^b   Layfield, Robert ^a,b  

^a UNIVERSITY OF NOTTINGHAM   (United Kingdom)

^b UNIVERSITY OF NOTTINGHAM   (United Kingdom)

^c BIOMOL International LP   (United Kingdom)

^d UNIVERSITY OF FLORENCE   (Italy)

Author keywords

NF b; P62; Paget's disease of bone; SQSTM1; Ubiquitin

Indexed keywords

IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; PROTEIN P62;

ADULT; ARTICLE; BINDING AFFINITY; CASE REPORT; CIRCULAR DICHROISM; CONTROLLED STUDY; FEMALE; GENE; GENE SEQUENCE; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; MOLECULAR BIOLOGY; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PAGET BONE DISEASE; PHENOTYPE; PROTEIN ANALYSIS; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN STRUCTURE; SIGNAL TRANSDUCTION; SQSTM1 GENE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; AGED, 80 AND OVER; AMINO ACID SUBSTITUTION; CELL LINE; FEMALE; HUMANS; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MIDDLE AGED; MODELS, MOLECULAR; MUTANT PROTEINS; MUTATION, MISSENSE; NF-KAPPA B; OSTEITIS DEFORMANS; PHENOTYPE; PROTEIN BINDING; PROTEIN STRUCTURE, TERTIARY; SIGNAL TRANSDUCTION; TRANSFECTION; UBIQUITIN;

EID: 65549140668     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/jbmr.081204     Document Type: Article

References (29)

1. Lucas GJ, Daroszewska A, Ralston SH 2006 Contribution of genetic factors to the pathogenesis of Paget's disease of bone and related disorders. J Bone Miner Res 21:S2;31-37.
2. Lucas GJ, Riches PL, Hocking LJ, Cundy T, Nicholson GC, Walsh JP, Ralston SH 2008 Identification of a major locus for Paget's disease on chromosome 10pl3 in families of British descent. J Bone Miner Res 23:58-63.
3. Laurin N, Brown JP, Morissette J, Raymond V 2002 Recurrent mutation of the gene encoding sequestosome 1 (SQSTMl/p62) in Paget disease of bone. Am J Hum Genet 70:1582-1588.
4. Hocking LJ, Lucas GJA, Daroszewska A, Mangion J, Olave-sen M, Nicholson GC, Ward L, Bennett ST, Wuyts W, Van Hul W, Ralston SH 2002 Domain specific mutations in Sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease. Hum Mol Genet 11:2735-2739.
5. Johnson-Pais TL, Wisdom JH, Weldon KS, Cody JD, Hansen MF, Singer FR, Leach RJ 2003 Three novel mutations in SQSTM1 identified in familial Paget's disease of bone. J Bone Miner Res 18:1748-1753.
6. Eekhoff EW, Karperien M, Houtsma D, Zwinderman AH, Dragoiescu C, Kneppers AL, Papapoulos SE 2004 Familial Paget's disease in The Netherlands: Occurrence, identification of new mutations in the sequestosome 1 gene, and their clinical associations. Arthritis Rheum 50:1650-1654.
7. Falchetti A, Di Stefano M, Marini F, Del Monte F, Mavilia C, Strigoli D, De Feo ML, Isaia G, Masi L, Amedei A, Cioppi F, Ghinoi V, Bongi SM, Di Fede G, Sferrazza C, Rini GB, Melchiorre D, Matucci-Cerinic M, Brandi ML 2004 Two novel mutations at exon 8 of Sequestosome 1 gene (SQSTM1) in an Italian serie of patients affected by Paget's disease of bone (PDB). J Bone Miner Res 19:1013-1017.
8. Hocking LJ, Lucas GJA, Daroszewska A, Cundy T, Nicholson GC, Donath J, Walsh JP, Finlayson C, Cavey JR, Ciani B, Sheppard PW, Searle MS, Layfield R, Ralston SH 2004 Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: Genotype phenotype correlation, functional analysis, and structural consequences. J Bone Miner Res 19:1122-1127.
9. Beyens G, Wuyts W, Cleiren E, de Freitas F, Tiegs R, Van Hul W 2006 Identification and molecular characterization of a novel splice-site mutation (G1205C) in the SQSTM1 gene causing Paget's disease of bone in an extended American family. Calcif Tissue Int 79:281-288.
10. Rea SL, Walsh JP, Ward L, Yip K, Ward BK, Kent GN, Steer JH, Xu J, Ratajczak T 2006 A novel mutation (K378X) in the sequestosome 1 gene associated with increased NF-kappaB signaling and Paget's disease of bone with a severe phenotype. J Bone Miner Res 21:1136-1145.
11. Collet C, Michou L, Audran M, Chasseigneaux S, Hilliquin P, Bardin T, Lemaire I, Cornells F, Launay JM, Orcel P, Laplanche JL 2007 Paget's disease of bone in the French population: Novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations. J Bone Miner Res 22:310-317.
12. Seibenhener ML, Geetha T, Wooten MW 2007 Sequestosome l/p62-more than just a scaffold. FEBS Lett 581:175-179.
13. Duran A, Serrano M, Leitges M, Flores JM, Picard S, Brown JP, Moscat J, Diaz-Meco MT 2004 The atypical PKC-inter-acting protein p62 is an important mediator of RANK-acti-vated osteoclastogenesis. Dev Cell 6:303-309.
14. Layfield R, Shaw B, 2007 Ubiquitin-mediated signalling and Paget's disease of bone. BMC Biochem 8(Suppl 1):S5.
15. Ciani B, Layfield R, Cavey JR, Sheppard PW, Searle MS 2003 Structure of the UBA domain of p62 (SQSTM1) and implications for mutations which cause Paget's disease of bone. J Biol Chem 278:37409-37412.
16. Long J, Gallagher TR, Cavey JR, Sheppard PW, Ralston SH, Layfield R, Searle MS 2008 Ubiquitin recognition by the ubiquitin-associated domain of p62 involves a novel conformational switch. J Biol Chem 283:5427-5440.
17. Yip KH, Feng H, Pavlos NJ, Zheng MH, Xu J 2006 p62 ubiquitin binding-associated domain mediated the receptor activator of nuclear factor-kappaB ligand-induced osteoclast formation: A new insight into the pathogenesis of Paget's disease of bone. Am J Pathol 169:503-514.
18. Jin W, Chang M, Paul EM, Babu G, Lee AJ, Reiley W, Wright A, Zhang M, You J, Sun SC 2008 Deubiquitinating enzyme CYLD negatively regulates RANK signaling and osteoclastogenesis in mice. J Clin Invest 118:1858-1866.
19. Cavey JR, Ralston SH, Sheppard PW, Ciani B, Gallagher TR, Long JE, Searle MS, Layfield R 2006 Loss of ubiquitin binding is a unifying mechanism by which mutations of SQSTM1 cause Paget's disease of bone. Calcif Tissue Int 78:271-277.
20. Cavey JR, Ralston SH, Hocking LJ, Sheppard PW, Ciani B, Searle MS, Layfield R 2005 Loss of ubiquitin-binding associated with Paget's disease of bone p62 (SQSTM1) mutations. J Bone Miner Res 20:619-624.
21. Seibenhener ML, Babu JR, Geetha T, Wong HC. Krishna NR, Wooten MW 2004 Sequestosome l/p62 is a polyubiquitin chain binding protein involved in ubiquitin proteasome degradation. Mol Cell Biol 24:8055-8068.
22. Bj0rk0y G, Lamark T, Brech A, Outzen H, Perander M, Overvatn A, Stenmark H, Johansen T 2005 p62/SQSTMl forms protein aggregates degraded by autophagy and has a protective effect on huntingtin-induced cell death. J Cell Biol 171:603-614.
23. Leach RJ, Singer FR, Ench Y, Wisdom JH, Pina DS, Johnson-Pais TL 2006 Clinical and cellular phenotypes associated with sequestosome 1 (SQSTM1) mutations. J Bone Miner Res 21:S2;45-50.
24. Raasi S, Varadan R, Fushman D, Pickart CM 2005 Diverse polyubiquitin interaction properties of ubiquitin-associated domains. Nat Struct Mol Biol 12:708-714.
25. lck, belongs to a new class of ubiquitin-binding proteins. J Biol Chem 271:20235-20237.
26. Pankiv S, Clausen TH, Lamark T, Brech A, Bruun JA, Outzen H, 0vervatn A, Bj0rk0y G, Johansen T 2007 p62/SQSTMl binds directly to Atg8/LC3 to facilitate degradation of ubiq-uitinated protein aggregates by autophagy. J Biol Chem 282:24131-24145.
27. Komatsu M, Waguri S, Koike M, Sou YS, Ueno T, Hara T, Mizushima N, Iwata J, Ezaki J, Murata S, Hamazaki J, Nishito Y, Iemura S, Natsume T, Yanagawa T, Uwayama J, Warabi E, Yoshida H, Ishii T, Kobayashi A, Yamamoto M, Yue Z, Uchiyama Y, Kominami E, Tanaka K 2007 Homeostatic levels of p62 control cytoplasmic inclusion body formation in autophagy-deficient mice. Cell 131:1149-1163.
28. Pridgeon JW, Geetha T, Wooten MW 2003 A method to identify p62's UBA domain interacting proteins. Biol Proced Online 5:228-237.
29. Lange S, Xiang F, Yakovenko A, Vihola A, Hackman P, Rostkova E, Kristensen J, Brandmeier B, Franzen G, Hedberg B, Gunnarsson LG, Hughes SM, Marchand S, Sejersen T, Richard I, Edstrom L, Ehler E, Udd B, Gautel M 2005 The kinase domain of titin controls muscle gene expression and protein turnover. Science 308:1599-1603.