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Volumn 22, Issue 5, 2014, Pages 667-674

Allele-specific Col1a1 silencing reduces mutant collagen in fibroblasts from Brtl mouse, a model for classical osteogenesis imperfecta

Author keywords

allele specific Col1a1 silencing; lentiviral vector; osteogenesis imperfecta; shRNA; siRNA

Indexed keywords

COL1A1 PROTEIN; COLLAGEN TYPE 1; DIMER; FIREFLY LUCIFERASE; HEAT SHOCK PROTEIN 47; LENTIVIRUS VECTOR; MUTANT PROTEIN; SHORT HAIRPIN RNA; SMALL INTERFERING RNA; UNCLASSIFIED DRUG; COLLAGEN TYPE I, ALPHA 1 CHAIN;

EID: 84898835680     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.198     Document Type: Article
Times cited : (23)

References (46)
  • 1
    • 0038132996 scopus 로고    scopus 로고
    • Allele-specific silencing of dominant disease genes
    • Miller VM, Xia H, Marrs GL et al: Allele-specific silencing of dominant disease genes. Proc Natl Acad Sci USA 2003; 100: 7195-7200.
    • (2003) Proc Natl Acad Sci USA , vol.100 , pp. 7195-7200
    • Miller, V.M.1    Xia, H.2    Marrs, G.L.3
  • 2
    • 0032545933 scopus 로고    scopus 로고
    • Potent and specific genetic interference by double-stranded RNA in Caenorhabditis elegans
    • Fire A, Xu S, Montgomery MK, Kostas SA, Driver SE, Mello CC: Potent and specific genetic interference by double-stranded RNA in Caenorhabditis elegans. Nature 1998; 391: 806-811.
    • (1998) Nature , vol.391 , pp. 806-811
    • Fire, A.1    Xu, S.2    Montgomery, M.K.3    Kostas, S.A.4    Driver, S.E.5    Mello, C.C.6
  • 3
    • 0033615491 scopus 로고    scopus 로고
    • A species of small antisense RNA in posttranscriptional gene silencing in plants
    • Hamilton AJ, Baulcombe DC: A species of small antisense RNA in posttranscriptional gene silencing in plants. Science 1999; 286: 950-952.
    • (1999) Science , vol.286 , pp. 950-952
    • Hamilton, A.J.1    Baulcombe, D.C.2
  • 4
    • 0242379146 scopus 로고    scopus 로고
    • Selective silencing by RNAi of a dominant allele that causes amyotrophic lateral sclerosis
    • Ding H, Schwarz DS, Keene A et al: Selective silencing by RNAi of a dominant allele that causes amyotrophic lateral sclerosis. Aging Cell 2003; 2: 209-217.
    • (2003) Aging Cell , vol.2 , pp. 209-217
    • Ding, H.1    Schwarz, D.S.2    Keene, A.3
  • 6
    • 56449115357 scopus 로고    scopus 로고
    • Allele dependent silencing of COL1A2 using small interfering RNAs
    • Lindahl K, Rubin CJ, Kindmark A, Ljunggren O: Allele dependent silencing of COL1A2 using small interfering RNAs. Int J Med Sci 2008; 5: 361-365.
    • (2008) Int J Med Sci , vol.5 , pp. 361-365
    • Lindahl, K.1    Rubin, C.J.2    Kindmark, A.3    Ljunggren, O.4
  • 7
    • 55549138740 scopus 로고    scopus 로고
    • Allele-specific silencing of the dominant disease allele in sialuria by RNA interference
    • Klootwijk RD, Savelkoul PJ, Ciccone C et al: Allele-specific silencing of the dominant disease allele in sialuria by RNA interference. Faseb J 2008; 22: 3846-3852.
    • (2008) Faseb J , vol.22 , pp. 3846-3852
    • Klootwijk, R.D.1    Savelkoul, P.J.2    Ciccone, C.3
  • 8
    • 84869016830 scopus 로고    scopus 로고
    • Allele-specific gene silencing in two mouse models of autosomal dominant skeletal myopathy
    • Loy RE, Lueck JD, Mostajo-Radji MA, Carrell EM, Dirksen RT: Allele-specific gene silencing in two mouse models of autosomal dominant skeletal myopathy. PLoS One 2012; 7: e49757.
    • (2012) PLoS One , vol.7
    • Loy, R.E.1    Lueck, J.D.2    Mostajo-Radji, M.A.3    Carrell, E.M.4    Dirksen, R.T.5
  • 9
    • 0037134020 scopus 로고    scopus 로고
    • A system for stable expression of short interfering RNAs in mammalian cells
    • Brummelkamp TR, Bernards R, Agami R: A system for stable expression of short interfering RNAs in mammalian cells. Science 2002; 296: 550-553.
    • (2002) Science , vol.296 , pp. 550-553
    • Brummelkamp, T.R.1    Bernards, R.2    Agami, R.3
  • 10
    • 0037089589 scopus 로고    scopus 로고
    • Short hairpin RNAs (shRNAs) induce sequence-specific silencing in mammalian cells
    • Paddison PJ, Caudy AA, Bernstein E, Hannon GJ, Conklin DS: Short hairpin RNAs (shRNAs) induce sequence-specific silencing in mammalian cells. Genes Dev 2002; 16: 948-958.
    • (2002) Genes Dev , vol.16 , pp. 948-958
    • Paddison, P.J.1    Caudy, A.A.2    Bernstein, E.3    Hannon, G.J.4    Conklin, D.S.5
  • 12
    • 33847227672 scopus 로고    scopus 로고
    • Consortium for osteogenesis imperfecta mutations in the helical domain of type i collagen: Regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans
    • Marini JC, Forlino A, Cabral WA et al: Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat 2007; 28: 209-221.
    • (2007) Hum Mutat , vol.28 , pp. 209-221
    • Marini, J.C.1    Forlino, A.2    Cabral, W.A.3
  • 13
    • 77956295515 scopus 로고    scopus 로고
    • Current and emerging treatments for the management of osteogenesis imperfecta
    • Monti E, Mottes M, Fraschini P et al: Current and emerging treatments for the management of osteogenesis imperfecta. Ther Clin Risk Manag 2010; 6: 367-381.
    • (2010) Ther Clin Risk Manag , vol.6 , pp. 367-381
    • Monti, E.1    Mottes, M.2    Fraschini, P.3
  • 14
    • 42549157989 scopus 로고    scopus 로고
    • Osteogenesis imperfecta: Update on presentation and management
    • Cheung MS, Glorieux FH: Osteogenesis imperfecta: update on presentation and management. Rev Endocr Metab Disord 2008; 9: 153-160.
    • (2008) Rev Endocr Metab Disord , vol.9 , pp. 153-160
    • Cheung, M.S.1    Glorieux, F.H.2
  • 17
    • 0018416379 scopus 로고
    • Genetic heterogeneity in osteogenesis imperfecta
    • Sillence DO, Senn A, Danks DM: Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979; 16: 101-116.
    • (1979) J Med Genet , vol.16 , pp. 101-116
    • Sillence, D.O.1    Senn, A.2    Danks, D.M.3
  • 18
    • 37349125312 scopus 로고    scopus 로고
    • Distribution of single-cell expanded marrow derived progenitors in a developing mouse model of osteogenesis imperfecta following systemic transplantation
    • Li F, Wang X, Niyibizi C: Distribution of single-cell expanded marrow derived progenitors in a developing mouse model of osteogenesis imperfecta following systemic transplantation. Stem Cells 2007; 25: 3183-3193.
    • (2007) Stem Cells , vol.25 , pp. 3183-3193
    • Li, F.1    Wang, X.2    Niyibizi, C.3
  • 19
    • 38949106568 scopus 로고    scopus 로고
    • Intrauterine transplantation of human fetal mesenchymal stem cells from first-trimester blood repairs bone and reduces fractures in osteogenesis imperfecta mice
    • Guillot PV, Abass O, Bassett JH et al: Intrauterine transplantation of human fetal mesenchymal stem cells from first-trimester blood repairs bone and reduces fractures in osteogenesis imperfecta mice. Blood 2008; 111: 1717-1725.
    • (2008) Blood , vol.111 , pp. 1717-1725
    • Guillot, P.V.1    Abass, O.2    Bassett, J.H.3
  • 20
    • 67651091674 scopus 로고    scopus 로고
    • In utero transplantation of adult bone marrow decreases perinatal lethality and rescues the bone phenotype in the knockin murine model for classical, dominant osteogenesis imperfecta
    • Panaroni C, Gioia R, Lupi A et al: In utero transplantation of adult bone marrow decreases perinatal lethality and rescues the bone phenotype in the knockin murine model for classical, dominant osteogenesis imperfecta. Blood 2009; 114: 459-468.
    • (2009) Blood , vol.114 , pp. 459-468
    • Panaroni, C.1    Gioia, R.2    Lupi, A.3
  • 21
    • 0035283077 scopus 로고    scopus 로고
    • Clinical responses to bone marrow transplantation in children with severe osteogenesis imperfecta
    • Horwitz EM, Prockop DJ, Gordon PL et al: Clinical responses to bone marrow transplantation in children with severe osteogenesis imperfecta. Blood 2001; 97: 1227-1231.
    • (2001) Blood , vol.97 , pp. 1227-1231
    • Horwitz, E.M.1    Prockop, D.J.2    Gordon, P.L.3
  • 22
    • 20544455396 scopus 로고    scopus 로고
    • Fetal mesenchymal stem-cell engraftment in bone after in utero transplantation in a patient with severe osteogenesis imperfecta
    • Le Blanc K, Gotherstrom C, Ringden O et al: Fetal mesenchymal stem-cell engraftment in bone after in utero transplantation in a patient with severe osteogenesis imperfecta. Transplantation 2005; 79: 1607-1614.
    • (2005) Transplantation , vol.79 , pp. 1607-1614
    • Le Blanc, K.1    Gotherstrom, C.2    Ringden, O.3
  • 23
    • 77956052070 scopus 로고    scopus 로고
    • Defining the risks of mesenchymal stromal cell therapy
    • Prockop DJ, Brenner M, Fibbe WE et al: Defining the risks of mesenchymal stromal cell therapy. Cytotherapy 2010; 12: 576-578.
    • (2010) Cytotherapy , vol.12 , pp. 576-578
    • Prockop, D.J.1    Brenner, M.2    Fibbe, W.E.3
  • 24
    • 0037685280 scopus 로고    scopus 로고
    • Expression profiling reveals off-target gene regulation by RNAi
    • Jackson AL, Bartz SR, Schelter J et al: Expression profiling reveals off-target gene regulation by RNAi. Nat Biotechnol 2003; 21: 635-637.
    • (2003) Nat Biotechnol , vol.21 , pp. 635-637
    • Jackson, A.L.1    Bartz, S.R.2    Schelter, J.3
  • 25
    • 0033621331 scopus 로고    scopus 로고
    • Use of the Cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an alpha1(I) G349C substitution. Variability in phenotype in BrtlIV mice
    • Forlino A, Porter FD, Lee EJ, Westphal H, Marini JC: Use of the Cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an alpha1(I) G349C substitution. Variability in phenotype in BrtlIV mice. J Biol Chem 1999; 274: 37923-37931.
    • (1999) J Biol Chem , vol.274 , pp. 37923-37931
    • Forlino, A.1    Porter, F.D.2    Lee, E.J.3    Westphal, H.4    Marini, J.C.5
  • 26
    • 4644352369 scopus 로고    scopus 로고
    • An economic and efficient method of RNAi vector constructions
    • Chang JT: An economic and efficient method of RNAi vector constructions. Anal Biochem 2004; 334: 199-200.
    • (2004) Anal Biochem , vol.334 , pp. 199-200
    • Chang, J.T.1
  • 27
    • 77952547972 scopus 로고    scopus 로고
    • Advantages of bioluminescence imaging to follow siRNA or chemotherapeutic treatments in osteosarcoma preclinical models
    • Rousseau J, Escriou V, Perrot P et al: Advantages of bioluminescence imaging to follow siRNA or chemotherapeutic treatments in osteosarcoma preclinical models. Cancer Gene Ther 2010; 17: 387-397.
    • (2010) Cancer Gene Ther , vol.17 , pp. 387-397
    • Rousseau, J.1    Escriou, V.2    Perrot, P.3
  • 28
    • 0037422583 scopus 로고    scopus 로고
    • An DS, Chen IS, Baltimore D: Inhibiting HIV-1 infection in human T cells by lentiviral-mediated delivery of small interfering RNA against CCR5
    • Qin XF, An DS, Chen IS, Baltimore D: Inhibiting HIV-1 infection in human T cells by lentiviral-mediated delivery of small interfering RNA against CCR5. Proc Natl Acad Sci USA 2003; 100: 183-188.
    • (2003) Proc Natl Acad Sci USA , vol.100 , pp. 183-188
    • Qin, X.F.1
  • 29
    • 35348850681 scopus 로고    scopus 로고
    • Sensitization of osteosarcoma cells to apoptosis by oncostatin M depends on STAT5 and p53
    • Chipoy C, Brounais B, Trichet V et al: Sensitization of osteosarcoma cells to apoptosis by oncostatin M depends on STAT5 and p53. Oncogene 2007; 26: 6653-6664.
    • (2007) Oncogene , vol.26 , pp. 6653-6664
    • Chipoy, C.1    Brounais, B.2    Trichet, V.3
  • 30
    • 34250337398 scopus 로고    scopus 로고
    • Differential expression of both extracellular and intracellular proteins is involved in the lethal or nonlethal phenotypic variation of BrtlIV, a murine model for osteogenesis imperfecta
    • Forlino A, Tani C, Rossi A et al: Differential expression of both extracellular and intracellular proteins is involved in the lethal or nonlethal phenotypic variation of BrtlIV, a murine model for osteogenesis imperfecta. Proteomics 2007; 7: 1877-1891.
    • (2007) Proteomics , vol.7 , pp. 1877-1891
    • Forlino, A.1    Tani, C.2    Rossi, A.3
  • 31
    • 36549047084 scopus 로고    scopus 로고
    • Selective retention and degradation of molecules with a single mutant alpha1(I) chain in the Brtl IV mouse model of OI
    • Forlino A, Kuznetsova NV, Marini JC, Leikin S: Selective retention and degradation of molecules with a single mutant alpha1(I) chain in the Brtl IV mouse model of OI. Matrix Biol 2007; 26: 604-614.
    • (2007) Matrix Biol , vol.26 , pp. 604-614
    • Forlino, A.1    Kuznetsova, N.V.2    Marini, J.C.3    Leikin, S.4
  • 32
    • 84862906036 scopus 로고    scopus 로고
    • Impaired osteoblastogenesis in a murine model of dominant osteogenesis imperfecta: A new target for osteogenesis imperfecta pharmacological therapy
    • Gioia R, Panaroni C, Besio R et al: Impaired osteoblastogenesis in a murine model of dominant osteogenesis imperfecta: a new target for osteogenesis imperfecta pharmacological therapy. Stem Cells 2012; 30: 1465-1476.
    • (2012) Stem Cells , vol.30 , pp. 1465-1476
    • Gioia, R.1    Panaroni, C.2    Besio, R.3
  • 33
    • 0030796853 scopus 로고    scopus 로고
    • Cleavage of collagen RNA transcripts by hammerhead ribozymes in vitro is mutation-specific and shows competitive binding effects
    • Grassi G, Forlino A, Marini JC: Cleavage of collagen RNA transcripts by hammerhead ribozymes in vitro is mutation-specific and shows competitive binding effects. Nucleic Acids Res 1997; 25: 3451-3458.
    • (1997) Nucleic Acids Res , vol.25 , pp. 3451-3458
    • Grassi, G.1    Forlino, A.2    Marini, J.C.3
  • 34
    • 1842487509 scopus 로고    scopus 로고
    • High proportion of mutant osteoblasts is compatible with normal skeletal function in mosaic carriers of osteogenesis imperfecta
    • Cabral WA, Marini JC: High proportion of mutant osteoblasts is compatible with normal skeletal function in mosaic carriers of osteogenesis imperfecta. Am J Hum Genet 2004; 74: 752-760.
    • (2004) Am J Hum Genet , vol.74 , pp. 752-760
    • Cabral, W.A.1    Marini, J.C.2
  • 35
    • 0030053744 scopus 로고    scopus 로고
    • Antisense oligodeoxynucleotides selectively suppress expression of the mutant alpha 2(I) collagen allele in type IV osteogenesis imperfecta fibroblasts. A molecular approach to therapeutics of dominant negative disorders
    • Wang Q, Marini JC: Antisense oligodeoxynucleotides selectively suppress expression of the mutant alpha 2(I) collagen allele in type IV osteogenesis imperfecta fibroblasts. A molecular approach to therapeutics of dominant negative disorders. J Clin Invest 1996; 97: 448-454.
    • (1996) J Clin Invest , vol.97 , pp. 448-454
    • Wang, Q.1    Marini, J.C.2
  • 36
    • 0034668040 scopus 로고    scopus 로고
    • Hammerhead ribozymes selectively suppress mutant type i collagen mRNA in osteogenesis imperfecta fibroblasts
    • Dawson PA, Marini JC: Hammerhead ribozymes selectively suppress mutant type I collagen mRNA in osteogenesis imperfecta fibroblasts. Nucleic Acids Res 2000; 28: 4013-4020.
    • (2000) Nucleic Acids Res , vol.28 , pp. 4013-4020
    • Dawson, P.A.1    Marini, J.C.2
  • 37
    • 84857784900 scopus 로고    scopus 로고
    • Progress toward in vivo use of siRNAs-II
    • Rettig GR, Behlke MA: Progress toward in vivo use of siRNAs-II. Mol Ther 2012; 20: 483-512.
    • (2012) Mol Ther , vol.20 , pp. 483-512
    • Rettig, G.R.1    Ma, B.2
  • 38
    • 33749438388 scopus 로고    scopus 로고
    • Designing siRNA that distinguish between genes that differ by a single nucleotide
    • Schwarz DS, Ding H, Kennington L et al: Designing siRNA that distinguish between genes that differ by a single nucleotide. PLoS Genet 2006; 2: e140.
    • (2006) PLoS Genet , vol.2
    • Schwarz, D.S.1    Ding, H.2    Kennington, L.3
  • 39
    • 48249098892 scopus 로고    scopus 로고
    • Enhancement of allele discrimination by introduction of nucleotide mismatches into siRNA in allele-specific gene silencing by RNAi
    • Ohnishi Y, Tamura Y, Yoshida M, Tokunaga K, Hohjoh H: Enhancement of allele discrimination by introduction of nucleotide mismatches into siRNA in allele-specific gene silencing by RNAi. PLoS One 2008; 3: e2248.
    • (2008) PLoS One , vol.3
    • Ohnishi, Y.1    Tamura, Y.2    Yoshida, M.3    Tokunaga, K.4    Hohjoh, H.5
  • 41
    • 33751099034 scopus 로고    scopus 로고
    • RNAi therapeutics: A potential new class of pharmaceutical drugs
    • Bumcrot D, Manoharan M, Koteliansky V, Sah DW: RNAi therapeutics: a potential new class of pharmaceutical drugs. Nat Chem Biol 2006; 2: 711-719.
    • (2006) Nat Chem Biol , vol.2 , pp. 711-719
    • Bumcrot, D.1    Manoharan, M.2    Koteliansky, V.3    Sah, D.W.4
  • 42
    • 77954354827 scopus 로고    scopus 로고
    • In vivo cellular adaptation to ER stress: Survival strategies with double-edged consequences
    • Tsang KY, Chan D, Bateman JF, Cheah KS: In vivo cellular adaptation to ER stress: survival strategies with double-edged consequences. J Cell Sci 2010; 123: 2145-2154.
    • (2010) J Cell Sci , vol.123 , pp. 2145-2154
    • Tsang, K.Y.1    Chan, D.2    Bateman, J.F.3    Cheah, K.S.4
  • 43
    • 0031888023 scopus 로고    scopus 로고
    • The retention of abnormal type i procollagen and correlated expression of HSP 47 in fibroblasts from a patient with lethal osteogenesis imperfecta
    • Kojima T, Miyaishi O, Saga S, Ishiguro N, Tsutsui Y, Iwata H: The retention of abnormal type I procollagen and correlated expression of HSP 47 in fibroblasts from a patient with lethal osteogenesis imperfecta. J Pathol 1998; 184: 212-218.
    • (1998) J Pathol , vol.184 , pp. 212-218
    • Kojima, T.1    Miyaishi, O.2    Saga, S.3    Ishiguro, N.4    Tsutsui, Y.5    Iwata, H.6
  • 44
    • 70449427834 scopus 로고    scopus 로고
    • Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy
    • Cartier N, Hacein-Bey-Abina S, Bartholomae CC et al: Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy. Science 2009; 326: 818-823.
    • (2009) Science , vol.326 , pp. 818-823
    • Cartier, N.1    Hacein-Bey-Abina, S.2    Bartholomae, C.C.3
  • 45
    • 79954733266 scopus 로고    scopus 로고
    • Lentiviral vector common integration sites in preclinical models and a clinical trial reflect a benign integration bias and not oncogenic selection
    • Biffi A, Bartolomae CC, Cesana D et al: Lentiviral vector common integration sites in preclinical models and a clinical trial reflect a benign integration bias and not oncogenic selection. Blood 2011; 117: 5332-5339.
    • (2011) Blood , vol.117 , pp. 5332-5339
    • Biffi, A.1    Bartolomae, C.C.2    Cesana, D.3
  • 46
    • 84860380381 scopus 로고    scopus 로고
    • Gene targeting to the ROSA26 locus directed by engineered zinc finger nucleases
    • Perez-Pinera P, Ousterout DG, Brown MT, Gersbach CA: Gene targeting to the ROSA26 locus directed by engineered zinc finger nucleases. Nucleic Acids Res 2012; 40: 3741-3752.
    • (2012) Nucleic Acids Res , vol.40 , pp. 3741-3752
    • Perez-Pinera, P.1    Ousterout, D.G.2    Brown, M.T.3    Gersbach, C.A.4


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