메뉴 건너뛰기




Volumn 21, Issue 14, 2012, Pages 3255-3263

Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR GATA 4; TRANSCRIPTION FACTOR NKX2.5; TRANSCRIPTION FACTOR TBX5;

EID: 84864022989     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds165     Document Type: Article
Times cited : (154)

References (62)
  • 1
    • 0037134945 scopus 로고    scopus 로고
    • The incidence of congenital heart disease
    • Hoffman, J.I. and Kaplan, S. (2002) The incidence of congenital heart disease. J. Am. Coll. Cardiol., 39, 1890-1900.
    • (2002) J. Am. Coll. Cardiol. , vol.39 , pp. 1890-1900
    • Hoffman, J.I.1    Kaplan, S.2
  • 6
    • 43049105408 scopus 로고    scopus 로고
    • A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts
    • Reamon-Buettner, S.M., Ciribilli, Y., Inga, A. and Borlak, J. (2008) A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts. Hum. Mol. Genet., 17, 1397-1405.
    • (2008) Hum. Mol. Genet. , vol.17 , pp. 1397-1405
    • Reamon-Buettner, S.M.1    Ciribilli, Y.2    Inga, A.3    Borlak, J.4
  • 7
    • 39749191367 scopus 로고    scopus 로고
    • The developmental genetics of congenital heart disease
    • Bruneau, B.G. (2008) The developmental genetics of congenital heart disease. Nature, 451, 943-948.
    • (2008) Nature , vol.451 , pp. 943-948
    • Bruneau, B.G.1
  • 9
    • 79251645624 scopus 로고    scopus 로고
    • Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease
    • Worthey, E.A., Mayer, A.N., Syverson, G.D., Helbling, D., Bonacci, B.B., Decker, B., Serpe, J.M., Dasu, T., Tschannen, M.R., Veith, R.L. et al. (2011) Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet. Med., 13, 255-262.
    • (2011) Genet. Med. , vol.13 , pp. 255-262
    • Worthey, E.A.1    Mayer, A.N.2    Syverson, G.D.3    Helbling, D.4    Bonacci, B.B.5    Decker, B.6    Serpe, J.M.7    Dasu, T.8    Tschannen, M.R.9    Veith, R.L.10
  • 17
    • 70249088327 scopus 로고    scopus 로고
    • Genomic views of distant-acting enhancers
    • Visel, A., Rubin, E.M. and Pennacchio, L.A. (2009) Genomic views of distant-acting enhancers. Nature, 461, 199-205.
    • (2009) Nature , vol.461 , pp. 199-205
    • Visel, A.1    Rubin, E.M.2    Pennacchio, L.A.3
  • 18
    • 84855720966 scopus 로고    scopus 로고
    • Transcriptional enhancers in development and disease
    • Sakabe, N.J., Savic, D. and Nobrega, M.A. (2012) Transcriptional enhancers in development and disease. Genome. Biol., 13, 238.
    • (2012) Genome. Biol. , vol.13 , pp. 238
    • Sakabe, N.J.1    Savic, D.2    Nobrega, M.A.3
  • 19
    • 77956295666 scopus 로고    scopus 로고
    • An 8q24 gene desert variant associated with prostate cancer risk confers differential in vivo activity to a MYC enhancer
    • Wasserman, N.F., Aneas, I. and Nobrega, M.A. (2010) An 8q24 gene desert variant associated with prostate cancer risk confers differential in vivo activity to a MYC enhancer. Genome. Res., 20, 1191-1197.
    • (2010) Genome. Res. , vol.20 , pp. 1191-1197
    • Wasserman, N.F.1    Aneas, I.2    Nobrega, M.A.3
  • 23
    • 34547738523 scopus 로고    scopus 로고
    • Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy
    • Kirk, E.P., Sunde, M., Costa, M.W., Rankin, S.A., Wolstein, O., Castro, M.L., Butler, T.L., Hyun, C., Guo, G., Otway, R. et al. (2007) Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy. Am. J. Hum. Genet., 81, 280-291.
    • (2007) Am. J. Hum. Genet. , vol.81 , pp. 280-291
    • Kirk, E.P.1    Sunde, M.2    Costa, M.W.3    Rankin, S.A.4    Wolstein, O.5    Castro, M.L.6    Butler, T.L.7    Hyun, C.8    Guo, G.9    Otway, R.10
  • 24
    • 0034234753 scopus 로고    scopus 로고
    • Ventricular expression of tbx5 inhibits normal heart chamber development
    • Liberatore, C.M., Searcy-Schrick, R.D. and Yutzey, K.E. (2000) Ventricular expression of tbx5 inhibits normal heart chamber development. Dev. Biol., 223, 169-180.
    • (2000) Dev. Biol. , vol.223 , pp. 169-180
    • Liberatore, C.M.1    Searcy-Schrick, R.D.2    Yutzey, K.E.3
  • 25
    • 0041409922 scopus 로고    scopus 로고
    • Tbx5 and Tbx4 trigger limb initiation through activation of the Wnt/Fgf signaling cascade
    • Takeuchi, J.K., Koshiba-Takeuchi, K., Suzuki, T., Kamimura, M., Ogura, K. and Ogura, T. (2003) Tbx5 and Tbx4 trigger limb initiation through activation of the Wnt/Fgf signaling cascade. Development, 130, 2729-2739.
    • (2003) Development , vol.130 , pp. 2729-2739
    • Takeuchi, J.K.1    Koshiba-Takeuchi, K.2    Suzuki, T.3    Kamimura, M.4    Ogura, K.5    Ogura, T.6
  • 26
  • 29
    • 0000846120 scopus 로고
    • Familial heart disease with skeletal malformations
    • Holt, M. and Oram, S. (1960) Familial heart disease with skeletal malformations. Br. Heart. J., 22, 236-242.
    • (1960) Br. Heart. J. , vol.22 , pp. 236-242
    • Holt, M.1    Oram, S.2
  • 31
    • 73749088451 scopus 로고    scopus 로고
    • Identification and characterisation of the developmental expression pattern of tbx5b, a novel tbx5 gene in zebrafish
    • Albalat, R., Baquero, M. and Minguillon, C. (2010) Identification and characterisation of the developmental expression pattern of tbx5b, a novel tbx5 gene in zebrafish. Gene. Expr. Patterns, 10, 24-30.
    • (2010) Gene. Expr. Patterns , vol.10 , pp. 24-30
    • Albalat, R.1    Baquero, M.2    Minguillon, C.3
  • 32
    • 0036800297 scopus 로고    scopus 로고
    • The heartstrings mutation in zebrafish causes heart/fin Tbx5 deficiency syndrome
    • Garrity, D.M., Childs, S. and Fishman, M.C. (2002) The heartstrings mutation in zebrafish causes heart/fin Tbx5 deficiency syndrome. Development, 129, 4635-4645.
    • (2002) Development , vol.129 , pp. 4635-4645
    • Garrity, D.M.1    Childs, S.2    Fishman, M.C.3
  • 33
    • 0032910597 scopus 로고    scopus 로고
    • Tbx5 is essential for heart development
    • Horb, M.E. and Thomsen, G.H. (1999) Tbx5 is essential for heart development. Development, 126, 1739-1751.
    • (1999) Development , vol.126 , pp. 1739-1751
    • Horb, M.E.1    Thomsen, G.H.2
  • 35
    • 80052527283 scopus 로고    scopus 로고
    • Alterations in TCF7L2 expression define its role as a key regulator of glucose metabolism
    • Savic, D., Ye, H., Aneas, I., Park, S.Y., Bell, G.I. and Nobrega, M.A. (2011) Alterations in TCF7L2 expression define its role as a key regulator of glucose metabolism. Genome Res., 21, 1417-1425.
    • (2011) Genome Res , vol.21 , pp. 1417-1425
    • Savic, D.1    Ye, H.2    Aneas, I.3    Park, S.Y.4    Bell, G.I.5    Nobrega, M.A.6
  • 36
    • 0038613098 scopus 로고    scopus 로고
    • A global control region defines a chromosomal regulatory landscape containing the HoxD cluster
    • Spitz, F., Gonzalez, F. and Duboule, D. (2003) A global control region defines a chromosomal regulatory landscape containing the HoxD cluster. Cell, 113, 405-417.
    • (2003) Cell , vol.113 , pp. 405-417
    • Spitz, F.1    Gonzalez, F.2    Duboule, D.3
  • 37
    • 0017121380 scopus 로고
    • The development of the septum primum relative to atrial septation in the mouse heart
    • Dalgleish, A.E. (1976) The development of the septum primum relative to atrial septation in the mouse heart. J. Morphol., 149, 369-382.
    • (1976) J. Morphol. , vol.149 , pp. 369-382
    • Dalgleish, A.E.1
  • 40
    • 79955027617 scopus 로고    scopus 로고
    • Co-occupancy by multiple cardiac transcription factors identifies transcriptional enhancers active in heart
    • He, A., Kong, S.W., Ma, Q. and Pu, W.T. (2011) Co-occupancy by multiple cardiac transcription factors identifies transcriptional enhancers active in heart. Proc. Natl Acad. Sci. USA, 108, 5632-5637.
    • (2011) Proc. Natl Acad. Sci. USA , vol.108 , pp. 5632-5637
    • He, A.1    Kong, S.W.2    Ma, Q.3    Pu, W.T.4
  • 43
    • 3242878193 scopus 로고    scopus 로고
    • ECR Browser: a tool for visualizing and accessing data from comparisons of multiple vertebrate genomes
    • Ovcharenko, I., Nobrega, M.A., Loots, G.G. and Stubbs, L. (2004) ECR Browser: a tool for visualizing and accessing data from comparisons of multiple vertebrate genomes. Nucleic Acids Res., 32, W280-W286.
    • (2004) Nucleic Acids Res , vol.32
    • Ovcharenko, I.1    Nobrega, M.A.2    Loots, G.G.3    Stubbs, L.4
  • 46
    • 74949092081 scopus 로고    scopus 로고
    • Detection of nonneutral substitution rates on mammalian phylogenies
    • Pollard, K.S., Hubisz, M.J., Rosenbloom, K.R. and Siepel, A. (2010) Detection of nonneutral substitution rates on mammalian phylogenies. Genome Res., 20, 110-121.
    • (2010) Genome Res , vol.20 , pp. 110-121
    • Pollard, K.S.1    Hubisz, M.J.2    Rosenbloom, K.R.3    Siepel, A.4
  • 47
    • 3242888285 scopus 로고    scopus 로고
    • rVISTA 2.0: evolutionary analysis of transcription factor binding sites
    • Loots, G.G. and Ovcharenko, I. (2004) rVISTA 2.0: evolutionary analysis of transcription factor binding sites. Nucleic Acids Res., 32, W217-W221.
    • (2004) Nucleic Acids Res , vol.32
    • Loots, G.G.1    Ovcharenko, I.2
  • 48
    • 0029960055 scopus 로고    scopus 로고
    • TRANSFAC: a database on transcription factors and their DNA binding sites
    • Wingender, E., Dietze, P., Karas, H. and Knuppel, R. (1996) TRANSFAC: a database on transcription factors and their DNA binding sites. Nucleic Acids Res., 24, 238-241.
    • (1996) Nucleic Acids Res , vol.24 , pp. 238-241
    • Wingender, E.1    Dietze, P.2    Karas, H.3    Knuppel, R.4
  • 49
    • 0034161361 scopus 로고    scopus 로고
    • Vasculogenesis in the day 6,5 to 9. 5 mouse embryo
    • Drake, C.J. and Fleming, P.A. (2000) Vasculogenesis in the day 6.5 to 9.5 mouse embryo. Blood, 95, 1671-1679.
    • (2000) Blood , vol.95 , pp. 1671-1679
    • Drake, C.J.1    Fleming, P.A.2
  • 50
    • 33751558834 scopus 로고    scopus 로고
    • lyl-1 and tal-1/scl, two genes encoding closely related bHLH transcription factors, display highly overlapping expression patterns during cardiovascular and hematopoietic ontogeny
    • Giroux, S., Kaushik, A.L., Capron, C., Jalil, A., Kelaidi, C., Sablitzky, F., Dumenil, D., Albagli, O. and Godin, I. (2007) lyl-1 and tal-1/scl, two genes encoding closely related bHLH transcription factors, display highly overlapping expression patterns during cardiovascular and hematopoietic ontogeny. Gene Expr. Patterns, 7, 215-226.
    • (2007) Gene Expr. Patterns , vol.7 , pp. 215-226
    • Giroux, S.1    Kaushik, A.L.2    Capron, C.3    Jalil, A.4    Kelaidi, C.5    Sablitzky, F.6    Dumenil, D.7    Albagli, O.8    Godin, I.9
  • 51
    • 0032846681 scopus 로고    scopus 로고
    • An SCL 3' enhancer targets developing endothelium together with embryonic and adult haematopoietic progenitors
    • Sanchez, M., Gottgens, B., Sinclair, A.M., Stanley, M., Begley, C.G., Hunter, S. and Green, A.R. (1999) An SCL 3' enhancer targets developing endothelium together with embryonic and adult haematopoietic progenitors. Development, 126, 3891-3904.
    • (1999) Development , vol.126 , pp. 3891-3904
    • Sanchez, M.1    Gottgens, B.2    Sinclair, A.M.3    Stanley, M.4    Begley, C.G.5    Hunter, S.6    Green, A.R.7
  • 52
    • 34548427078 scopus 로고    scopus 로고
    • Early endocardial morphogenesis requires Scl/Tal1
    • Bussmann, J., Bakkers, J. and Schulte-Merker, S. (2007) Early endocardial morphogenesis requires Scl/Tal1. PLoS Genet., 3, e140.
    • (2007) PLoS Genet , vol.3
    • Bussmann, J.1    Bakkers, J.2    Schulte-Merker, S.3
  • 54
    • 84975742565 scopus 로고    scopus 로고
    • A map of human genome variation from population-scale sequencing
    • Consortium, T.G.P. (2010) A map of human genome variation from population-scale sequencing. Nature, 467, 1061-1073.
    • (2010) Nature , vol.467 , pp. 1061-1073
    • Consortium, T.G.P.1
  • 60
    • 0033832853 scopus 로고    scopus 로고
    • The olfactory placodes of the zebrafish form by convergence of cellular fields at the edge of the neural plate
    • Whitlock, K.E. and Westerfield, M. (2000) The olfactory placodes of the zebrafish form by convergence of cellular fields at the edge of the neural plate. Development, 127, 3645-3653.
    • (2000) Development , vol.127 , pp. 3645-3653
    • Whitlock, K.E.1    Westerfield, M.2
  • 61
    • 0025269196 scopus 로고
    • Cell movements during epiboly and gastrulation in zebrafish
    • Warga, R.M. and Kimmel, C.B. (1990) Cell movements during epiboly and gastrulation in zebrafish. Development, 108, 569-580.
    • (1990) Development , vol.108 , pp. 569-580
    • Warga, R.M.1    Kimmel, C.B.2
  • 62
    • 0027445532 scopus 로고
    • Detection of messenger RNA by in situ hybridization to tissue sections and whole mounts
    • Wilkinson, D.G. and Nieto, M.A. (1993) Detection of messenger RNA by in situ hybridization to tissue sections and whole mounts. Methods Enzymol., 225, 361-373.
    • (1993) Methods Enzymol , vol.225 , pp. 361-373
    • Wilkinson, D.G.1    Nieto, M.A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.