메뉴 건너뛰기




Volumn 7, Issue 8, 2012, Pages

Glutamine repeat variants in human RUNX2 associated with decreased femoral neck BMD, broadband ultrasound attenuation and target gene transactivation

Author keywords

[No Author keywords available]

Indexed keywords

POLYGLUTAMINE; TRANSCRIPTION FACTOR RUNX2; VITAMIN D RECEPTOR;

EID: 84865060439     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0042617     Document Type: Article
Times cited : (13)

References (49)
  • 3
    • 84857064587 scopus 로고    scopus 로고
    • Absolute fracture-risk prediction by a combination of calcaneal quantitative ultrasound and bone mineral density
    • Chan MY, Nguyen ND, Center JR, Eisman JA, Nguyen TV, (2012) Absolute fracture-risk prediction by a combination of calcaneal quantitative ultrasound and bone mineral density. Calcif Tissue Int 90: 128-136.
    • (2012) Calcif Tissue Int , vol.90 , pp. 128-136
    • Chan, M.Y.1    Nguyen, N.D.2    Center, J.R.3    Eisman, J.A.4    Nguyen, T.V.5
  • 4
    • 0030678549 scopus 로고    scopus 로고
    • Osf2/Cbfa1: a transcriptional activator of osteoblast differentiation
    • Ducy P, Zhang R, Geoffroy V, Ridall AL, Karsenty G, (1997) Osf2/Cbfa1: a transcriptional activator of osteoblast differentiation. Cell 89: 747-754.
    • (1997) Cell , vol.89 , pp. 747-754
    • Ducy, P.1    Zhang, R.2    Geoffroy, V.3    Ridall, A.L.4    Karsenty, G.5
  • 5
    • 0030684749 scopus 로고    scopus 로고
    • Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts
    • Komori T, Yagi H, Nomura S, Yamaguchi A, et al. (1997) Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts. Cell 89: 755-764.
    • (1997) Cell , vol.89 , pp. 755-764
    • Komori, T.1    Yagi, H.2    Nomura, S.3    Yamaguchi, A.4
  • 6
    • 0030666372 scopus 로고    scopus 로고
    • Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development
    • Otto F, Thornell AP, Crompton T, Denzel A, Gilmour KC, et al. (1997) Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development. Cell 89: 765-771.
    • (1997) Cell , vol.89 , pp. 765-771
    • Otto, F.1    Thornell, A.P.2    Crompton, T.3    Denzel, A.4    Gilmour, K.C.5
  • 7
    • 15444351110 scopus 로고    scopus 로고
    • Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia
    • Mundlos S, Otto F, Mundlos C, Mulliken JB, Aylsworth AS, et al. (1997) Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell 89: 773-779.
    • (1997) Cell , vol.89 , pp. 773-779
    • Mundlos, S.1    Otto, F.2    Mundlos, C.3    Mulliken, J.B.4    Aylsworth, A.S.5
  • 9
    • 0035992658 scopus 로고    scopus 로고
    • Alleles of RUNX2/CBFA1 gene are associated with differences in bone mineral density and risk of fracture
    • Vaughan T, Pasco JA, Kotowicz MA, Nicholson GC, Morrison NA, (2002) Alleles of RUNX2/CBFA1 gene are associated with differences in bone mineral density and risk of fracture. J Bone Miner Res 17: 1527-1534.
    • (2002) J Bone Miner Res , vol.17 , pp. 1527-1534
    • Vaughan, T.1    Pasco, J.A.2    Kotowicz, M.A.3    Nicholson, G.C.4    Morrison, N.A.5
  • 10
    • 2942589202 scopus 로고    scopus 로고
    • RUNX2 alleles associated with BMD in Scottish women; interaction of RUNX2 alleles with menopausal status and body mass index
    • Vaughan T, Reid DM, Morrison NA, Ralston SH, (2004) RUNX2 alleles associated with BMD in Scottish women; interaction of RUNX2 alleles with menopausal status and body mass index. Bone 34: 1029-1036.
    • (2004) Bone , vol.34 , pp. 1029-1036
    • Vaughan, T.1    Reid, D.M.2    Morrison, N.A.3    Ralston, S.H.4
  • 11
    • 26244452990 scopus 로고    scopus 로고
    • Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation
    • Napierala D, Garcia-Rojas X, Sam K, Wakui K, Chen C, et al. (2005) Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation. Mol Genet Metab 86: 257-268.
    • (2005) Mol Genet Metab , vol.86 , pp. 257-268
    • Napierala, D.1    Garcia-Rojas, X.2    Sam, K.3    Wakui, K.4    Chen, C.5
  • 13
    • 34848816852 scopus 로고    scopus 로고
    • Promoter 2 -1025 T/C polymorphism in the RUNX2 gene is associated with femoral neck BMD in Spanish postmenopausal women
    • Bustamante M, Nogués X, Agueda L, Jurado S, Wesselius A, et al. (2007) Promoter 2-1025 T/C polymorphism in the RUNX2 gene is associated with femoral neck BMD in Spanish postmenopausal women. Calcif Tissue Int 81: 327-332.
    • (2007) Calcif Tissue Int , vol.81 , pp. 327-332
    • Bustamante, M.1    Nogués, X.2    Agueda, L.3    Jurado, S.4    Wesselius, A.5
  • 14
    • 45149117995 scopus 로고    scopus 로고
    • Family based association study of polymorphisms in the RUNX2 locus with hand bone length and hand BMD
    • Ermakov S, Malkin I, Keter M, Kobyliansky E, Livshits G, (2008) Family based association study of polymorphisms in the RUNX2 locus with hand bone length and hand BMD. Ann Hum Genet 72: 510-518.
    • (2008) Ann Hum Genet , vol.72 , pp. 510-518
    • Ermakov, S.1    Malkin, I.2    Keter, M.3    Kobyliansky, E.4    Livshits, G.5
  • 15
    • 67349133555 scopus 로고    scopus 로고
    • Association of a RUNX2 promoter polymorphism with bone mineral density in postmenopausal Korean women
    • Lee HJ, Koh JM, Hwang JY, Choi KY, Lee SH, et al. (2009) Association of a RUNX2 promoter polymorphism with bone mineral density in postmenopausal Korean women. Calcif Tissue Int 84: 439-445.
    • (2009) Calcif Tissue Int , vol.84 , pp. 439-445
    • Lee, H.J.1    Koh, J.M.2    Hwang, J.Y.3    Choi, K.Y.4    Lee, S.H.5
  • 16
    • 84255200563 scopus 로고    scopus 로고
    • Building strong bones: molecular regulation of the osteoblast lineage
    • Long F, (2011) Building strong bones: molecular regulation of the osteoblast lineage. Nat Rev Mol Cell Biol 13: 27-38.
    • (2011) Nat Rev Mol Cell Biol , vol.13 , pp. 27-38
    • Long, F.1
  • 17
    • 84876452754 scopus 로고    scopus 로고
    • Online Mendelian Inheritance in Man, OMIM®. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) (2012) World Wide Web URL: http://omim.org/#119600, CLEIDOCRANIAL DYSPLASIA; CCD.
  • 18
    • 71949088306 scopus 로고    scopus 로고
    • Perspectives on RUNX genes: an update
    • Cohen MM Jr, (2009) Perspectives on RUNX genes: an update. Am J Med Genet 149: 2629-2646.
    • (2009) Am J Med Genet , vol.149 , pp. 2629-2646
    • Cohen Jr., M.M.1
  • 19
    • 0036781942 scopus 로고    scopus 로고
    • Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations
    • Yoshida T, Kanegane H, Osato M, Yanagida M, et al. (2002) Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations. Am J Hum Genet 71: 724-738.
    • (2002) Am J Hum Genet , vol.71 , pp. 724-738
    • Yoshida, T.1    Kanegane, H.2    Osato, M.3    Yanagida, M.4
  • 20
    • 0033622171 scopus 로고    scopus 로고
    • PEBP2alphaA/CBFA1 mutations in Japanese cleidocranial dysplasia patients
    • Zhang YW, Yasui N, Kakazu N, Abe T, Takada K, et al. (2000) PEBP2alphaA/CBFA1 mutations in Japanese cleidocranial dysplasia patients. Gene 244: 21-28.
    • (2000) Gene , vol.244 , pp. 21-28
    • Zhang, Y.W.1    Yasui, N.2    Kakazu, N.3    Abe, T.4    Takada, K.5
  • 21
    • 77958109197 scopus 로고    scopus 로고
    • Mechanisms of trinucleotide repeat instability during human development
    • McMurray CT, (2010) Mechanisms of trinucleotide repeat instability during human development. Nat Rev Genet 11: 786-799.
    • (2010) Nat Rev Genet , vol.11 , pp. 786-799
    • McMurray, C.T.1
  • 22
    • 78349276509 scopus 로고    scopus 로고
    • Common polymorphisms rather than rare genetic variants of the Runx2 gene are associated with femoral neck BMD in Spanish women
    • Pineda B, Hermenegildo C, Laporta P, Tarín JJ, Cano A, et al. (2010) Common polymorphisms rather than rare genetic variants of the Runx2 gene are associated with femoral neck BMD in Spanish women. J Bone Miner Metab 28: 696-705.
    • (2010) J Bone Miner Metab , vol.28 , pp. 696-705
    • Pineda, B.1    Hermenegildo, C.2    Laporta, P.3    Tarín, J.J.4    Cano, A.5
  • 23
    • 11144230088 scopus 로고    scopus 로고
    • Molecular origins of rapid and continuous morphological evolution
    • Fondon JW 3rd, Garner HR, (2004) Molecular origins of rapid and continuous morphological evolution. Proc Natl Acad Sci USA 101: 18058-18063.
    • (2004) Proc Natl Acad Sci USA , vol.101 , pp. 18058-18063
    • Fondon 3rd, J.W.1    Garner, H.R.2
  • 24
    • 35748963803 scopus 로고    scopus 로고
    • The correlated evolution of Runx2 tandem repeats, transcriptional activity, and facial length in carnivora
    • Sears KE, Goswami A, Flynn JJ, Niswander LA, (2007) The correlated evolution of Runx2 tandem repeats, transcriptional activity, and facial length in carnivora. Evol Dev 9: 555-565.
    • (2007) Evol Dev , vol.9 , pp. 555-565
    • Sears, K.E.1    Goswami, A.2    Flynn, J.J.3    Niswander, L.A.4
  • 25
    • 33646131205 scopus 로고    scopus 로고
    • Effects of calcium supplementation on clinical fracture and bone structure: results of a 5-year, double-blind, placebo-controlled trial in elderly women
    • Prince RL, Devine A, Dhaliwal SS, Dick IM, (2006) Effects of calcium supplementation on clinical fracture and bone structure: results of a 5-year, double-blind, placebo-controlled trial in elderly women. Arch Intern Med 166: 869-875.
    • (2006) Arch Intern Med , vol.166 , pp. 869-875
    • Prince, R.L.1    Devine, A.2    Dhaliwal, S.S.3    Dick, I.M.4
  • 27
    • 0032875190 scopus 로고    scopus 로고
    • The age- and gender-specific rate of fractures in Australia: a population based study
    • Sanders KM, Seeman E, Ugoni AM, Pasco JA, Martin TJ, et al. (1999) The age- and gender-specific rate of fractures in Australia: a population based study. Osteoporosis Int 10: 240-247.
    • (1999) Osteoporosis Int , vol.10 , pp. 240-247
    • Sanders, K.M.1    Seeman, E.2    Ugoni, A.M.3    Pasco, J.A.4    Martin, T.J.5
  • 28
    • 38449123307 scopus 로고    scopus 로고
    • Genetic effects on bone loss in peri- and postmenopausal women: a longitudinal twin study
    • Makovey J, Nguyen TV, Naganathan V, Wark JD, Sambrook PN, (2007) Genetic effects on bone loss in peri- and postmenopausal women: a longitudinal twin study. J Bone Miner Res 22: 1773-1780.
    • (2007) J Bone Miner Res , vol.22 , pp. 1773-1780
    • Makovey, J.1    Nguyen, T.V.2    Naganathan, V.3    Wark, J.D.4    Sambrook, P.N.5
  • 29
    • 50249134930 scopus 로고    scopus 로고
    • Association between leptin, body composition, sex and knee cartilage morphology in older adults: the Tasmanian older adult cohort (TASOAC) study
    • Ding C, Parameswaran V, Cicuttini F, Burgess J, Zhai G, et al. (2008) Association between leptin, body composition, sex and knee cartilage morphology in older adults: the Tasmanian older adult cohort (TASOAC) study. Ann Rheum Dis 67: 1256-1261.
    • (2008) Ann Rheum Dis , vol.67 , pp. 1256-1261
    • Ding, C.1    Parameswaran, V.2    Cicuttini, F.3    Burgess, J.4    Zhai, G.5
  • 30
    • 0034877199 scopus 로고    scopus 로고
    • COL1A1 Sp1 polymorphism predicts perimenopausal and early postmenopausal spinal bone loss
    • MacDonald HM, McGuigan FA, New SA, Campbell MK, Golden MHN, et al. (2001) COL1A1 Sp1 polymorphism predicts perimenopausal and early postmenopausal spinal bone loss. J Bone Miner Res 16: 1634-1641.
    • (2001) J Bone Miner Res , vol.16 , pp. 1634-1641
    • MacDonald, H.M.1    McGuigan, F.A.2    New, S.A.3    Campbell, M.K.4    Golden, M.H.N.5
  • 31
    • 0026502314 scopus 로고
    • Treatment of postmenopausal osteoporosis with calcitriol or calcium
    • Tilyard MW, Spears GF, Thomson J, Dovey S, (1992) Treatment of postmenopausal osteoporosis with calcitriol or calcium. N Engl J Med 326: 357-362.
    • (1992) N Engl J Med , vol.326 , pp. 357-362
    • Tilyard, M.W.1    Spears, G.F.2    Thomson, J.3    Dovey, S.4
  • 32
    • 17644426376 scopus 로고    scopus 로고
    • Vitamin D receptor genotypes influence the success of calcitriol therapy for recurrent vertebral fracture in osteoporosis
    • Morrison NA, George PM, Vaughan T, Tilyard MW, Frampton CM, et al. (2005) Vitamin D receptor genotypes influence the success of calcitriol therapy for recurrent vertebral fracture in osteoporosis. Pharmacogenet Genomics 15: 127-135.
    • (2005) Pharmacogenet Genomics , vol.15 , pp. 127-135
    • Morrison, N.A.1    George, P.M.2    Vaughan, T.3    Tilyard, M.W.4    Frampton, C.M.5
  • 33
    • 0034641617 scopus 로고    scopus 로고
    • A RUNX2/PEBP2alpha A/CBFA1 mutation displaying impaired transactivation and Smad interaction in cleidocranial dysplasia
    • Zhang YW, Yasui N, Ito K, Huang G, Fujii M, et al. (2000) A RUNX2/PEBP2alpha A/CBFA1 mutation displaying impaired transactivation and Smad interaction in cleidocranial dysplasia. Proc Natl Acad Sci USA 97: 10549-10554.
    • (2000) Proc Natl Acad Sci USA , vol.97 , pp. 10549-10554
    • Zhang, Y.W.1    Yasui, N.2    Ito, K.3    Huang, G.4    Fujii, M.5
  • 34
    • 0024991898 scopus 로고
    • pEF-BOS, a powerful mammalian expression vector
    • Mizushima S, Nagata S, (1990) pEF-BOS, a powerful mammalian expression vector. Nucleic Acids Res 18: 5322.
    • (1990) Nucleic Acids Res , vol.18 , pp. 5322
    • Mizushima, S.1    Nagata, S.2
  • 35
    • 0036781942 scopus 로고    scopus 로고
    • Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations
    • Yoshida T, Kanegane H, Osato M, Yanagida M, Miyawaki T, et al. (2002) Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations. Am J Hum Genet 71: 724-738.
    • (2002) Am J Hum Genet , vol.71 , pp. 724-738
    • Yoshida, T.1    Kanegane, H.2    Osato, M.3    Yanagida, M.4    Miyawaki, T.5
  • 36
    • 0034660683 scopus 로고    scopus 로고
    • A noncommercial dual luciferase enzyme assay system for reporter gene analysis
    • Dyer BW, Ferrer FA, Klinedinst DK, Rodriguez R, (2000) A noncommercial dual luciferase enzyme assay system for reporter gene analysis. Anal Biochem 282: 158-161.
    • (2000) Anal Biochem , vol.282 , pp. 158-161
    • Dyer, B.W.1    Ferrer, F.A.2    Klinedinst, D.K.3    Rodriguez, R.4
  • 37
    • 0033918407 scopus 로고    scopus 로고
    • VDR-Alien: a novel, DNA-selective vitamin D(3) receptor-corepressor partnership
    • Polly P, Herdick M, Moehren U, Baniahmad A, Heinzel T, et al. (2000) VDR-Alien: a novel, DNA-selective vitamin D(3) receptor-corepressor partnership. FASEB J 14: 1455-1463.
    • (2000) FASEB J , vol.14 , pp. 1455-1463
    • Polly, P.1    Herdick, M.2    Moehren, U.3    Baniahmad, A.4    Heinzel, T.5
  • 38
    • 84876430938 scopus 로고    scopus 로고
    • Hood GM (2010) PopTools version 3.2.3 (CSIRO Canberra, Australia). Available on the internet. URL http://www.poptools.org.
  • 39
    • 33646894425 scopus 로고    scopus 로고
    • The population burden of fractures originates in women with osteopenia, not osteoporosis
    • Pasco JA, Seeman E, Henry MJ, Merriman EN, Nicholson GC, et al. (2006) The population burden of fractures originates in women with osteopenia, not osteoporosis. Osteoporos Int 17: 1404-1409.
    • (2006) Osteoporos Int , vol.17 , pp. 1404-1409
    • Pasco, J.A.1    Seeman, E.2    Henry, M.J.3    Merriman, E.N.4    Nicholson, G.C.5
  • 40
    • 77958150991 scopus 로고    scopus 로고
    • Perspectives of Kennedy's disease
    • Finsterer J, (2010) Perspectives of Kennedy's disease. J Neurol Sci 298: 1-10.
    • (2010) J Neurol Sci , vol.298 , pp. 1-10
    • Finsterer, J.1
  • 41
    • 0028033594 scopus 로고
    • The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect transactivation function
    • Chamberlain NL, Driver ED, Miesfeld RL, (1994) The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect transactivation function. Nucleic Acids Res 22: 3181-3186.
    • (1994) Nucleic Acids Res , vol.22 , pp. 3181-3186
    • Chamberlain, N.L.1    Driver, E.D.2    Miesfeld, R.L.3
  • 43
    • 40049106859 scopus 로고    scopus 로고
    • Molecular dynamics simulation study on the structural stabilities of polyglutamine peptides
    • Ogawa H, Nakano M, Watanabe H, Starikov EB, Rothstein SM, et al. (2008) Molecular dynamics simulation study on the structural stabilities of polyglutamine peptides. Comput Biol Chem 32: 102-110.
    • (2008) Comput Biol Chem , vol.32 , pp. 102-110
    • Ogawa, H.1    Nakano, M.2    Watanabe, H.3    Starikov, E.B.4    Rothstein, S.M.5
  • 44
    • 4744369224 scopus 로고    scopus 로고
    • Bone-specific transcription factor Runx2 interacts with the 1alpha,25-dihydroxyvitamin D3 receptor to up-regulate rat osteocalcin gene expression in osteoblastic cells
    • Paredes R, Arriagada G, Cruzat F, Villagra A, Olate J, et al. (2004) Bone-specific transcription factor Runx2 interacts with the 1alpha,25-dihydroxyvitamin D3 receptor to up-regulate rat osteocalcin gene expression in osteoblastic cells. Mol Cell Biol 24: 8847-8861.
    • (2004) Mol Cell Biol , vol.24 , pp. 8847-8861
    • Paredes, R.1    Arriagada, G.2    Cruzat, F.3    Villagra, A.4    Olate, J.5
  • 45
    • 84856151305 scopus 로고    scopus 로고
    • Polyglutamine tracts as modulators of transcriptional activation from yeast to mammals
    • Atanesyan L, Nther V, Dichtl B, Georgiev O, Schaffner W, (2012) Polyglutamine tracts as modulators of transcriptional activation from yeast to mammals. Biol Chem 393: 63-70.
    • (2012) Biol Chem , vol.393 , pp. 63-70
    • Atanesyan, L.1    Nther, V.2    Dichtl, B.3    Georgiev, O.4    Schaffner, W.5
  • 46
    • 78549278120 scopus 로고    scopus 로고
    • Bovine proteins containing poly-glutamine repeats are often polymorphic and enriched for components of transcriptional regulatory complexes
    • Whan V, Hobbs M, McWilliam S, Lynn DJ, Lutzow YS, et al. (2010) Bovine proteins containing poly-glutamine repeats are often polymorphic and enriched for components of transcriptional regulatory complexes. BMC Genomics 11: 654-665.
    • (2010) BMC Genomics , vol.11 , pp. 654-665
    • Whan, V.1    Hobbs, M.2    McWilliam, S.3    Lynn, D.J.4    Lutzow, Y.S.5
  • 48
    • 33745959553 scopus 로고    scopus 로고
    • Cbf beta regulates Runx2 function isoform-dependently in postnatal bone development
    • Kanatani N, Fujita T, Fukuyama R, Liu W, Yoshida CA, et al. (2006) Cbf beta regulates Runx2 function isoform-dependently in postnatal bone development. Dev Biol 296: 48-61.
    • (2006) Dev Biol , vol.296 , pp. 48-61
    • Kanatani, N.1    Fujita, T.2    Fukuyama, R.3    Liu, W.4    Yoshida, C.A.5
  • 49
    • 22144436962 scopus 로고    scopus 로고
    • Selective Runx2-II deficiency leads to low-turnover osteopenia in adult mice
    • Xiao Z, Awad HA, Liu S, Mahlios J, Zhang S, et al. (2005) Selective Runx2-II deficiency leads to low-turnover osteopenia in adult mice. Dev Biol 283: 345-356.
    • (2005) Dev Biol , vol.283 , pp. 345-356
    • Xiao, Z.1    Awad, H.A.2    Liu, S.3    Mahlios, J.4    Zhang, S.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.