Identification of a major locus for Paget's disease on chromosome 10p13 in families of British descent

Journal of Bone and Mineral Research

Volumn 23, Issue 1, 2008, Pages 58-63

  Lucas, Gavin J A ^a   Riches, Phillip L ^a   Hocking, Lynne J ^b   Cundy, Tim ^c   Nicholson, Geoff C ^d   Walsh, John P ^e   Ralston, Stuart H ^a,f  

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

^b UNIVERSITY OF ABERDEEN   (United Kingdom)

^c UNIVERSITY OF AUCKLAND   (New Zealand)

^d UNIVERSITY OF MELBOURNE   (Australia)

^e SIR CHARLES GAIRDNER HOSPITAL   (Australia)

^f WESTERN GENERAL HOSPITAL   (United Kingdom)

Author keywords

Genome wide scan; Linkage analysis; Paget's disease of bone; SQSTM1

Indexed keywords

ARTICLE; CHROMOSOME 10P; CHROMOSOME 2Q; CHROMOSOME 5Q; CHROMOSOME IDENTIFICATION; GENE LOCUS; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; GENOME; GENOTYPE; HUMAN; HUMAN CELL; PAGET BONE DISEASE; RACE;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 10; FEMALE; GENOME, HUMAN; HUMANS; MALE; OSTEITIS DEFORMANS; PEDIGREE;

EID: 37549034220     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/jbmr.071004     Document Type: Article

References (42)

1. 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.
2. Altman RD, Bloch DA, Hochberg MC, Murphy WA 2000 Prevalence of pelvic Paget's disease of bone in the United States. J Bone Miner Res 15:461-465.
3. Cooper C, Schafheutle K, Dennison E, Kellingray S, Guyer P, Barker D 1999 The epidemiology of Paget's disease in Britain: Is the prevalence decreasing? J Bone Miner Res 14:192-197.
4. Cundy HR, Gamble G, Wattie D, Rutland M, Cundy T 2004 Paget's disease of bone in New Zealand: Continued decline in disease severity. Calcif Tissue Int 75:358-364.
5. Gennari L, Di SM, Merlotti D, Giordano N, Martini G, Tamone C, Zatteri R, De LR, Baldi C, Vattimo A, Capoccia S, Burroni L, Geraci S, De PV, Calabro A, Avanzati A, Isaia G, Nuti R 2005 Prevalence of Paget's disease of bone in Italy. J Bone Miner Res 20:1845-1850.
6. Siris ES 1994 Epidemiological aspects of Paget's disease: Family history and relationship to other medical conditions. Semin Arthrit Rheum 23:222-225.
7. Solomon LR 1979 Billiard-player's fingers: An unusual case of Paget's disease of bone. BMJ 1:931.
8. Lopez-Abente G, Morales-Piga A, Elena-Ibanez A, Rey-Rey JS, Corres-Gonzalez J 1997 Cattle, pets, and Paget's disease of bone. Epidemiology 8:247-251.
9. Lever JH 2002 Paget's disease of bone in Lancashire and arsenic pesticide in cotton mill wastewater: A speculative hypothesis. Bone 31:434-436.
10. Reddy SV, Kurihara N, Menaa C, Landucci G, Forthal D, Koop BA, Windle JJ, Roodman GD 2001 Osteoclasts formed by measles virus-infected osteoclast precursors from hCD46 transgenic mice express characteristics of pagetic osteoclasts. Endocrinology 142:2898-2905.
11. Selby PL, Davies M, Mee AP 2006 Canine distemper virus induces human osteoclastogenesis through NF-kappaB and sequestosome 1/P62 activation. J Bone Miner Res 21:1750-1756.
12. Kurihara N, Zhou H, Reddy SV, Palacios VG, 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.
13. Rima BK, Gassen U, Helfrich MH, Ralston SH 2002 The pro and con of measles virus in Paget's disease: Con. J Bone Miner Res 17:2290-2292.
14. Friedrichs WE, Reddy SV, Singer FR, Roodman GD 2002 The pro and con of measles virus in Paget's disease: Pro. J Bone Miner Res 17:2293.
15. Ralston SH, Afzal MA, Helfrich MH, Fraser WD, Gallagher JA, Mee A, Rima B 2007 Multicenter blinded analysis of RT-PCR detection methods for paramyxoviruses in relation to Paget's disease of bone. J Bone Miner Res 22:569-577.
16. Montagu MFA 1949 Paget's disease (osteitis deformans) and hereditary. Am J Hum Genet 1:94-95.
17. Siris ES, Ottman R, Flaster E, Kelsey JL 1991 Familial aggregation of Paget's disease of bone. J Bone Miner Res 6:495-500.
18. Sofaer JA, Holloway SM, Emery AE 1983 A family study of Paget's disease of bone. J Epidemiol Community Health 37:226-231.
19. 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.
20. 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.
21. 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.
22. 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.
23. Hocking LJ, Lucas GJA, Daroszewska A, Mangion J, Olavesen 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.
24. 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, Maddali Bongi S, Di Fede G, Sfrerrazza C, Rini GB, Melchiorre D, Matucci-Cerenic M, Brandi ML 2004 Two novel mutations at exon 8 of Sequestosome 1 gene (SQSTM1) in an Italian series of patients affected by Paget's disease of bone (PDB). J Bone Miner Res 19:1013-1017.
25. Beyens G, Van HE, Van DK, Fransen E, Devogelaer JP, Vanhoenacker F, Van OJ, Verbruggen L, De CL, Westhovens R, Van HW 2004 Evaluation of the role of the SQSTM1 gene in sporadic Belgian patients with Paget's disease. Calcif Tissue Int 75:144-152.
26. 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.
27. 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.
28. 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.
29. 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.
30. 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.
31. Rojas J, Daroszewska A, Elelfrich MH, van't Hof RJ, Ralston SH 2007 Mice with a truncating mutation of SQSTM1 exhibit several phenotypic features in common with Paget's disease of bone. Calcif Tissue Int 81:149.
32. 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.
33. O'Connell JR, Weeks DE 1998 PedCheck: A program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 63:259-266.
34. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES 1996 Parametric and non-parametric linkage analysis: A unified multipoint approach. Am J Hum Genet 58:1347-1363.
35. Bolland MJ, Tong PC, Naot D, Callon KE, Wattie DJ, Gamble GD, Cundy T 2007 Delayed development of Paget's disease in offspring inheriting SQSTM1 mutations. J Bone Miner Res 22:411-115.
36. Tilyard MW, Gardner RJ, Milligan L, Cleary TA, Stewart RD 1982 A probable linkage between familial Paget's disease and the HLA loci. Aust N Z J Med 12:498-500.
37. Hughes AE, Shearman AM, Weber JL, Barr RJ, Wallace RG, Osterberg PH, Nevin NC, Mollan RA 1994 Genetic linkage of familial expansile osteolysis to chromosome 18q. Hum Mol Genet 3:359-361.
38. Good DA, Busfield F, Fletcher BH, Duffy DL, Kesting JB, Andersen J, Shaw JT 2001 Linkage of Paget disease of bone to a novel region on human chromosome 18q23. Am J Hum Genet 70:517-525.
39. 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.
40. Layfield R, Hocking LJ 2004 SQSTM1 and Paget's disease of bone. Calcif Tissue Int 75:347-357.
41. 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.
42. Daroszewska A, Ralston SH 2006 Mechanisms of disease: Genetics of Paget's disease of bone and related disorders. Nat Clin Pract Rheum 2:270-277.