Sequestosome 1 (SQSTM1) mutations in Paget's disease of bone from the United States

Calcified Tissue International

Volumn 82, Issue 4, 2008, Pages 271-277

  Rhodes, Emily C ^a   Johnson Pais, Teresa L ^a   Singer, Frederick R ^b   Ankerst, Donna P ^a,c   Bruder, Jan M ^d   Wisdom, Julie ^a   Hoon, Dave S B ^b   Lin, Emerald ^b   Bone, Henry G ^e   Simcic, Kenneth J ^d   Leach, Robin J ^a  

^a Mays Cancer Center at UT Health San Antonio   (United States)

^b JOHN WAYNE CANCER INSTITUTE   (United States)

^c UNIVERSITY OF MUNICH   (Germany)

^d UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

^e Michigan Bone and Mineral Clinic   (United States)

Author keywords

Bone; Genetic; Osteoclast; Paget's disease; Sequestosome 1

Indexed keywords

DNA;

ARTICLE; AUSTRALIA; BELGIUM; BLOOD; CANADA; CONFIDENCE INTERVAL; CONTROLLED STUDY; DNA ISOLATION; EXON; FAMILY; FEMALE; FRANCE; GENE; GENE MUTATION; GENE SEQUENCE; HAPLOTYPE; HUMAN; INTRON; ITALY; MAJOR CLINICAL STUDY; MALE; NETHERLANDS; PAGET BONE DISEASE; PATHOGENESIS; PRIORITY JOURNAL; SEQUESTOSOME 1 GENE; SERUM; STATISTICAL SIGNIFICANCE; UNITED KINGDOM; UNITED STATES;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; BLOOD; DNA MUTATIONAL ANALYSIS; EUROPE; EXONS; FAMILY HEALTH; HAPLOTYPES; HUMANS; INTRONS; MODELS, STATISTICAL; MUTATION; OSTEITIS DEFORMANS; SERUM; UNITED STATES;

EID: 43049108052     PISSN: 0171967X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00223-008-9114-9     Document Type: Article

References (31)

1. Tiegs RD, Lohse CM, Wollan PC, Melton LJ (2000) Long-term trends in the incidence of Paget's disease of bone. Bone 27:423-427
2. van Staa TP, Selby P, Leufkens HG, Lyles K, Sprafka JM, Cooper C (2002) Incidence and natural history of Paget's disease of bone in england and wales. J Bone Miner Res 17:465-471
3. Siris ES (1994) Perspectives: a practical guide to the use of pamidronate in the treatment of Paget's disease. J Bone Miner Res 9:303-304
4. Sofaer JA, Holloway SM, Emery AE (1983) A family study of Paget's disease of bone. J Epidemiol Community Health 37:226-231
5. Morales-Piga AA, Rey-Rey JS, Corres-Gonzalez J, Garcia-Sagredo JM, Lopez-Abente G (1995) Frequency and characteristics of familial aggregation of Paget's disease of bone. J Bone Miner Res 10:663-670
6. Fotino M, Haymovits A, Falk CT (1977) Evidence for linkage between HLA and Paget's disease. Transplant Proc 9:1867-1868
7. Cody JD, Singer FR, Roodman GD, Otterund B, Lewis TB, Leppert M, Leach RJ (1997) Genetic linkage of Paget disease of the bone to chromosome 18q. Am J Hum Genet 61:1117-1122
8. Haslam SI, Van Hul W, Morales-Piga A, Balemans W, San-Millan JL, Nakatsuka K, Willems P, Haites NE, Ralston SH (1998) Paget's disease of bone: evidence for a susceptibility locus on chromosome 18q and for genetic heterogeneity. J Bone Miner Res 13:911-917
9. Laurin N, Brown JP, Lemainque A, Duchesne A, Huot D, Lacourciere Y, Drapeau G, Verreault J, Raymond V, Morissette J (2001) Paget disease of bone: mapping of two loci at 5q35-qter and 5q31. Am J Hum Genet 69:528-543
10. Hocking LJ, Herbert CA, Nicholls RK, Williams F, Bennett ST, Cundy T, Nicholson GC, Wuyts W, Van Hul W, Ralston SH (2001) Genomewide search in familial Paget disease of bone shows evidence of genetic heterogeneity with candidate loci on chromosomes 2q36, 10p13, and 5q35. Am J Hum Genet 69:1055-1061
11. Good DA, Busfield F, Fletcher BH, Duffy DL, Kesting JB, Andersen J, Shaw JT (2002) Linkage of Paget disease of bone to a novel region on human chromosome 18q23. Am J Hum Genet 70:517-525
12. Vadlamudi RK, Joung I, Strominger JL, Shin J (1996) p62, a phosphotyrosine-independent ligand of the SH2 domain of p56lck, belongs to a new class of ubiquitin-binding proteins. J Biol Chem 271:20235-20237
13. Laurin N, Brown JP, Morissette J, Raymond V (2002) Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone. Am J Hum Genet 70:1582-1588
14. Collet C, Michou L, Audran M, Chasseigneaux S, Hilliquin P, Bardin T, Lemaire I, Cornelis 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
15. Hocking LJ, Lucas GJ, Daroszewska A, Mangion J, Olavesen M, Cundy T, 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
16. Good DA, Busfield F, Fletcher BH, Lovelock PK, Duffy DL, Kesting JB, Andersen J, Shaw JT (2004) Identification of SQSTM1 mutations in familial Paget's disease in Australian pedigrees. Bone 35:277-282
17. 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
18. 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 the sequestosome 1 (SQSTM1) gene in an Italian series of patients affected by Paget's disease of bone (PDB). J Bone Miner Res 19:1013-1017
19. Beyens G, Van Hul E, Van Driessche K, Fransen E, Devogelaer JP, Vanhoenacker F, Van Offel J, Verbruggen L, De Clerck L, Westhovens R, Van Hul W (2004) Evaluation of the role of the SQSTM1 gene in sporadic Belgian patients with Paget's disease. Calcif Tissue Int 75:144-152
20. Lucas GJ, Hocking LJ, Daroszewska A, Cundy T, Nicholson GC, Walsh JP, Fraser WD, Meier C, Hooper MJ, Ralston SH (2005) Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone: evidence for a founder effect in patients of British descent. J Bone Miner Res 20:227-231
21. Taback B, Fujiwara Y, Wang HJ, Foshag LJ, Morton DL, Hoon DS (2001) Prognostic significance of circulating microsatellite markers in the plasma of melanoma patients. Cancer Res 61:5723-5726
22. Newcombe RG (1998) Two-sided confidence intervals for the single proportion: comparison of seven methods. Stat Med 17:857-872
23. Cooper H, Hedges LV (1994) The handbook of research synthesis. Russell Sage Foundation, New York
24. Mori T, O'Day SJ, Umetani N, Martinez SR, Kitago M, Koyanagi K, Kuo C, Takeshima TL, Milford R, Wang HJ, Vu VD, Nguyen SL, Hoon DS (2005) Predictive utility of circulating methylated DNA in serum of melanoma patients receiving biochemotherapy. J Clin Oncol 23:9351-9358
25. Koyanagi K, Mori T, O'Day SJ, Martinez SR, Wang HJ, Hoon DS (2006) Association of circulating tumor cells with serum tumor-related methylated DNA in peripheral blood of melanoma patients. Cancer Res 66:6111-6117
26. 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
27. Seibenhener ML, Babu JR, Geetha T, Wong HC, Krishna NR, Wooten MW (2004) Sequestosome 1/p62 is a polyubiquitin chain binding protein involved in ubiquitin proteasome degradation. Mol Cell Biol 24:8055-8068
28. 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
29. Roodman GD, Windle JJ (2005) Paget disease of bone. J Clin Invest 115:200-208
30. Ralston SH, Helfrich MH (1999) Are paramyxoviruses involved in Paget's disease? A negative view. Bone 24:17S-18S
31. Kurihara N, Zhou H, Reddy SV, Garcia Palacios V, Subler MA, Dempster DW, Windle JJ, Roodman GD (2006) Expression of measles virus nucleocapsid protein in osteoclasts induces Paget's disease-like bone lesions in mice. J Bone Miner Res 21:446-455