Detection of SQSTM1/P392L post-zygotic mutations in Paget’s disease of bone
详细信息 查看全文
- 作者：Sabrina Guay-Bélanger ; Sylvain Picard ; Edith Gagnon ; Jean Morissette…
- 刊名：Human Genetics
- 出版年：2015
- 出版时间：January 2015
- 年：2015
- 卷：134
- 期：1
- 页码：53-65
- 全文大小：782 KB
- 参考文献：1. Biesecker LG, Spinner NB (2013) A genomic view of mosaicism and human disease. Nat Rev Genet 14:307-20 CrossRef
2. 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 22:411-15 CrossRef
3. Braasch DA, Corey DR (2001) Locked nucleic acid (LNA): fine-tuning the recognition of DNA and RNA. Chem Biol 8:1- CrossRef
4. Chung PY, Van Hul W (2011) Paget’s disease of bone: evidence for complex pathogenetic interactions. Semin Arthritis Rheum 41:619-41 CrossRef
5. 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 22:310-17 CrossRef
6. Cundy T, Naot D, Bava U, Musson D, Tong PC, Bolland M (2011) Familial Paget disease and SQSTM1 mutations in New Zealand. Calcif Tissue Int 89:258-64 CrossRef
7. Forsberg LA, Absher D, Dumanski JP (2013) Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime. J Med Genet 50:1-0 CrossRef
8. Gennari L, Gianfrancesco F, Di Stefano M, Rendina D, Merlotti D, Esposito T, Gallone S, Fusco P, Rainero I, Fenoglio P, Mancini M, Martini G, Bergui S, De Filippo G, Isaia G, Strazzullo P, Nuti R, Mossetti G (2010) SQSTM1 gene analysis and gene-environment interaction in Paget’s disease of bone. J Bone Miner Res 25:1375-384 CrossRef
9. Happle R (1986) The McCune-Albright syndrome: a lethal gene surviving by mosaicism. Clin Genet 29:321-24 CrossRef
10. 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 11:2735-739 CrossRef
11. Hocking LJ, Lucas GJ, 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 19:1122-127 CrossRef
12. Kaplan L, Foster R, Shen Y, Parry DM, McMaster ML, O’Leary MC, Gusella JF (2010) Monozygotic twins discordant for neurofibromatosis 1. Am J Med Genet A 152A:601-06 CrossRef
13. Kurihara N, Hiruma Y, Yamana K, Michou L, Rousseau C, Morissette J, Galson DL, Zhou H, Dempster DW, Windle JJ, Brown JP, Roodman GD (2011) Contributions of the measles virus nucleocapsid gene and the SQSTM1P392L mutation to Paget’s disease. Cell Metab 13:23-4
14. 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 69:528-43 CrossRef
15. 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 70:1582-588 CrossRef
16. Lietman SA, Ding C, Levine MA (2005) A highly sensitive polymerase ch - 作者单位：Sabrina Guay-Bélanger (1) (2)
Sylvain Picard (3)
Edith Gagnon (1)
Jean Morissette (1)
Ethel S. Siris (4)
Philippe Orcel (5)
Jacques P. Brown (1) (2) (6)
La?titia Michou (1) (2) (6)
1. CHU de Québec Research Centre, Rhumatologie-R4774, CHU de Québec, 2705 boulevard Laurier, Québec, QC, G1V 4G2, Canada
2. Division of Rheumatology, Department of Medicine, Université Laval, Québec, QC, Canada
3. Department of Pathology, CHU de Québec, Québec, QC, Canada
4. Columbia University Medical Centre, New York, NY, USA
5. P?le appareil locomoteur, service de rhumatologie B, h?pital Lariboisière AP-HP, Paris, France
6. Department of Rheumatology, CHU de Québec, Québec, QC, Canada - 刊物类别：Biomedical and Life Sciences
- 刊物主题：Biomedicine
Human Genetics
Molecular Medicine
Internal Medicine
Metabolic Diseases - 出版者：Springer Berlin / Heidelberg
- ISSN：1432-1203
文摘
Paget’s disease of bone (PDB) is transmitted, in one-third of cases, in an autosomal dominant mode of inheritance with incomplete penetrance. The SQSTM1/P392L germinal mutation is the most common mutation associated with PDB. Given the focal nature of PDB, one team of investigators showed that SQSTM1/P392L somatic mutations could occur in pagetic bone lesions in the absence of germinal mutations detectable in the peripheral blood. The objectives of this study were to develop a reliable method to detect SQSTM1/P392L post-zygotic mutations, by optimizing a polymerase chain reaction (PCR)-clamping method reported to be effective in detecting post-zygotic mutations in peripheral blood from patients with fibrous dysplasia; and to evaluate the frequency of this post-zygotic mutation in PDB patients. We used a locked nucleic acid (LNA) specifically designed for the SQSTM1/P392L mutation, which blocks the wild-type allele amplification during the PCR. DNA from 376 pagetic patients and 297 controls, all without any SQSTM1/P392L germinal mutation, was analyzed. We found that 4.8?% of PDB patients and 1.4?% of controls were carriers of this post-zygotic mutation [p?=?0.013, OR 3.68 (1.23; 11.00)]. PDB patient carriers of a post-zygotic mutation had a lower number of affected bones and Renier’s index than patients carrying a germinal mutation, suggesting a lower disease extension. We also demonstrated that this post-zygotic mutation was restricted to the monocytic lineage. These results confirmed that LNA PCR clamping is effective for the detection of SQSTM1/P392L post-zygotic mutations, which may occur in patients with PDB.