메뉴 건너뛰기




Volumn 18, Issue 2, 2007, Pages 194-198

Functional analysis of regulatory single-nucleotide polymorphisms

Author keywords

Common diseases; Gene expression analysis; Promoter; Regulatory SNPs; SNPs

Indexed keywords

DNA; LUCIFERASE; RNA; TRANSCRIPTION FACTOR;

EID: 33947153023     PISSN: 09579672     EISSN: None     Source Type: Journal    
DOI: 10.1097/MOL.0b013e3280145093     Document Type: Review
Times cited : (14)

References (37)
  • 1
    • 18444404884 scopus 로고    scopus 로고
    • TheUMD-LDLR database: Additions to the software and 490 new entries to the database
    • Villeger L, Abifadel M, Allard D, et al. TheUMD-LDLR database: additions to the software and 490 new entries to the database. Hum Mutat 2002; 20:81-87.
    • (2002) Hum Mutat , vol.20 , pp. 81-87
    • Villeger, L.1    Abifadel, M.2    Allard, D.3
  • 2
    • 0034568336 scopus 로고    scopus 로고
    • Genomics: Launching a revolution in medicine
    • Lander ES. Genomics: launching a revolution in medicine. J Law Med Ethics 2000; 28:3-14.
    • (2000) J Law Med Ethics , vol.28 , pp. 3-14
    • Lander, E.S.1
  • 3
    • 0035451780 scopus 로고    scopus 로고
    • On the allelic spectrum of human disease
    • Reich DE, Lander ES. On the allelic spectrum of human disease. Trends Genet 2001; 17:502-510.
    • (2001) Trends Genet , vol.17 , pp. 502-510
    • Reich, D.E.1    Lander, E.S.2
  • 4
    • 0023860891 scopus 로고
    • Apolipoprotein E polymorphism and atherosclerosis
    • Davignon J, Gregg RE, Sing CF. Apolipoprotein E polymorphism and atherosclerosis. Arteriosclerosis 1988; 8:1-21.
    • (1988) Arteriosclerosis , vol.8 , pp. 1-21
    • Davignon, J.1    Gregg, R.E.2    Sing, C.F.3
  • 5
    • 0033624575 scopus 로고    scopus 로고
    • The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes
    • Altshuler D, Hirschhorn JN, Klannemark M, et al. The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nat Genet 2000; 26:76-80.
    • (2000) Nat Genet , vol.26 , pp. 76-80
    • Altshuler, D.1    Hirschhorn, J.N.2    Klannemark, M.3
  • 6
    • 0016669094 scopus 로고
    • Evolution at two levels in humans and chimpanzees
    • King MC, Wilson AC. Evolution at two levels in humans and chimpanzees. Science 1975; 188:107-116.
    • (1975) Science , vol.188 , pp. 107-116
    • King, M.C.1    Wilson, A.C.2
  • 7
    • 0036855185 scopus 로고    scopus 로고
    • Abundant raw material for cis-regulatory evolution in humans
    • Rockman MV, Wray GA. Abundant raw material for cis-regulatory evolution in humans. Mol Biol Evol 2002; 19:1991-2004.
    • (2002) Mol Biol Evol , vol.19 , pp. 1991-2004
    • Rockman, M.V.1    Wray, G.A.2
  • 8
    • 0242610000 scopus 로고    scopus 로고
    • FH-Pyrgos: A novel mutation in the promoter (-45delT) of the low-density lipoprotein receptor gene associated with familial hypercholesterolemia
    • Dedoussis GV, Pitsavos C, Kelberman D, et al. FH-Pyrgos: a novel mutation in the promoter (-45delT) of the low-density lipoprotein receptor gene associated with familial hypercholesterolemia. Clin Genet 2003; 64:414-419.
    • (2003) Clin Genet , vol.64 , pp. 414-419
    • Dedoussis, G.V.1    Pitsavos, C.2    Kelberman, D.3
  • 9
    • 4344614179 scopus 로고    scopus 로고
    • New promoter mutations in the low-density lipoprotein receptor gene which induce familial hypercholesterolaemia phenotype: Molecular and functional analysis
    • Francova H, Trbusek M, Zapletalova P, Kuhrova V. New promoter mutations in the low-density lipoprotein receptor gene which induce familial hypercholesterolaemia phenotype: molecular and functional analysis. J Inherit Metab Dis 2004; 27:523-528.
    • (2004) J Inherit Metab Dis , vol.27 , pp. 523-528
    • Francova, H.1    Trbusek, M.2    Zapletalova, P.3    Kuhrova, V.4
  • 10
    • 0027948983 scopus 로고
    • A single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia
    • Koivisto UM, Palvimo JJ, Janne OA, Kontula K. A single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia. Proc Natl Acad Sci U S A 1994; 91:10526-10530.
    • (1994) Proc Natl Acad Sci U S A , vol.91 , pp. 10526-10530
    • Koivisto, U.M.1    Palvimo, J.J.2    Janne, O.A.3    Kontula, K.4
  • 11
    • 0036161429 scopus 로고    scopus 로고
    • A mutation (-49C>T) in the promoter of the low density lipoprotein receptor gene associated with familial hypercholesterolemia
    • Mozas P, Galetto R, Albajar M, et al. A mutation (-49C>T) in the promoter of the low density lipoprotein receptor gene associated with familial hypercholesterolemia. J Lipid Res 2002; 43:13-18.
    • (2002) J Lipid Res , vol.43 , pp. 13-18
    • Mozas, P.1    Galetto, R.2    Albajar, M.3
  • 12
    • 0028828278 scopus 로고
    • A mutation (T-45C) in the promoter region of the low-density-lipoprotein (LDL)-receptor gene is associated with a mild clinical phenotype in a patient with heterozygous familial hypercholesterolaemia (FH)
    • Sun XM, Neuwirth C, Wade DP, et al. A mutation (T-45C) in the promoter region of the low-density-lipoprotein (LDL)-receptor gene is associated with a mild clinical phenotype in a patient with heterozygous familial hypercholesterolaemia (FH). Hum Mol Genet 1995; 4:2125-2129.
    • (1995) Hum Mol Genet , vol.4 , pp. 2125-2129
    • Sun, X.M.1    Neuwirth, C.2    Wade, D.P.3
  • 14
    • 0029116085 scopus 로고
    • Structure of the hepatic control region of the human apolipoprotein E/C-I gene locus
    • Dang Q, Walker D, Taylor S, et al. Structure of the hepatic control region of the human apolipoprotein E/C-I gene locus. J Biol Chem 1995; 270:22577-22585.
    • (1995) J Biol Chem , vol.270 , pp. 22577-22585
    • Dang, Q.1    Walker, D.2    Taylor, S.3
  • 15
    • 0026099668 scopus 로고
    • Single nucleotide primer extension to detect genetic diseases: Experimental application to hemophilia B (factor IX) and cystic fibrosis genes
    • Kuppuswamy MN, Hoffmann JW, Kasper CK, et al. Single nucleotide primer extension to detect genetic diseases: experimental application to hemophilia B (factor IX) and cystic fibrosis genes. Proc Natl Acad Sci U S A 1991; 88:1143-1147.
    • (1991) Proc Natl Acad Sci U S A , vol.88 , pp. 1143-1147
    • Kuppuswamy, M.N.1    Hoffmann, J.W.2    Kasper, C.K.3
  • 16
    • 0026443008 scopus 로고
    • Parental imprinting studied by allele-specific primer extension after PCR: Paternal X chromosome-linked genes are transcribed prior to preferential paternal X chromosome inactivation
    • Singer-Sam J, Chapman V, LeBon JM, Riggs AD. Parental imprinting studied by allele-specific primer extension after PCR: paternal X chromosome-linked genes are transcribed prior to preferential paternal X chromosome inactivation. Proc Natl Acad Sci U S A 1992; 89:10469-10473.
    • (1992) Proc Natl Acad Sci U S A , vol.89 , pp. 10469-10473
    • Singer-Sam, J.1    Chapman, V.2    LeBon, J.M.3    Riggs, A.D.4
  • 17
    • 0037370311 scopus 로고    scopus 로고
    • Natural variation in human gene expression assessed in lymphoblastoid cells
    • Cheung VG, Conlin LK, Weber TM, et al. Natural variation in human gene expression assessed in lymphoblastoid cells. Nat Genet 2003; 33:422-425.
    • (2003) Nat Genet , vol.33 , pp. 422-425
    • Cheung, V.G.1    Conlin, L.K.2    Weber, T.M.3
  • 18
    • 0036590151 scopus 로고    scopus 로고
    • Universal, robust, highly quantitative SNP allele frequency measurement in DNA pools
    • Norton N, Williams NM, Williams HJ, et al. Universal, robust, highly quantitative SNP allele frequency measurement in DNA pools. Hum Genet 2002; 110:471-478.
    • (2002) Hum Genet , vol.110 , pp. 471-478
    • Norton, N.1    Williams, N.M.2    Williams, H.J.3
  • 19
    • 0012789869 scopus 로고    scopus 로고
    • Allelic variation in gene expression is common in the human genome
    • Lo HS, Wang Z, Hu Y, et al. Allelic variation in gene expression is common in the human genome. Genome Res 2003; 13:1855-1862.
    • (2003) Genome Res , vol.13 , pp. 1855-1862
    • HS, L.1    Wang, Z.2    Hu, Y.3
  • 20
    • 4043128071 scopus 로고    scopus 로고
    • Genetic analysis of genome-wide variation in human gene expression
    • Morley M, Molony CM, Weber TM, et al. Genetic analysis of genome-wide variation in human gene expression. Nature 2004; 430:743-747.
    • (2004) Nature , vol.430 , pp. 743-747
    • Morley, M.1    Molony, C.M.2    Weber, T.M.3
  • 21
    • 0037381011 scopus 로고    scopus 로고
    • In vivo characterization of regulatory polymorphisms by allele-specific quantification of RNA polymerase loading
    • Knight JC, Keating BJ, Rockett KA, Kwiatkowski DP. In vivo characterization of regulatory polymorphisms by allele-specific quantification of RNA polymerase loading. Nat Genet 2003; 33:469-475.
    • (2003) Nat Genet , vol.33 , pp. 469-475
    • Knight, J.C.1    Keating, B.J.2    Rockett, K.A.3    Kwiatkowski, D.P.4
  • 22
    • 33744475085 scopus 로고    scopus 로고
    • De Gobbi M, Viprakasit V, Hughes JR, et al. A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter. Science 2006; 312:1215-1217. •• This is a fine example of the combination of chromatin immunoprecipitation and classical functional analysis of gene expression.
    • De Gobbi M, Viprakasit V, Hughes JR, et al. A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter. Science 2006; 312:1215-1217. •• This is a fine example of the combination of chromatin immunoprecipitation and classical functional analysis of gene expression.
  • 23
    • 0020435972 scopus 로고
    • Recombinant genomes which express chloramphenicol acetyltransferase in mammalian cells
    • Gorman CM, Moffat LF, Howard BH. Recombinant genomes which express chloramphenicol acetyltransferase in mammalian cells. Mol Cell Biol 1982; 2:1044-1051.
    • (1982) Mol Cell Biol , vol.2 , pp. 1044-1051
    • Gorman, C.M.1    Moffat, L.F.2    Howard, B.H.3
  • 24
    • 0023124097 scopus 로고
    • Firefly luciferase gene: Structure and expression in mammalian cells
    • de Wet JR, Wood KV, DeLuca M, et al. Firefly luciferase gene: structure and expression in mammalian cells. Mol Cell Biol 1987; 7:725-737.
    • (1987) Mol Cell Biol , vol.7 , pp. 725-737
    • de Wet, J.R.1    Wood, K.V.2    DeLuca, M.3
  • 25
    • 0015857646 scopus 로고
    • Transformation of rat cells by DNA of human adenovirus 5
    • Graham FL, van der Eb AJ. Transformation of rat cells by DNA of human adenovirus 5. Virology 1973; 54:536-539.
    • (1973) Virology , vol.54 , pp. 536-539
    • Graham, F.L.1    van der Eb, A.J.2
  • 26
    • 0014322388 scopus 로고
    • Enchancement of the infectivity of simian virus 40 deoxyribonucleic acid with diethylaminoethyl-dextran
    • McCutchan JH, Pagano JS. Enchancement of the infectivity of simian virus 40 deoxyribonucleic acid with diethylaminoethyl-dextran. J Natl Cancer Inst 1968; 41:351-357.
    • (1968) J Natl Cancer Inst , vol.41 , pp. 351-357
    • McCutchan, J.H.1    Pagano, J.S.2
  • 27
    • 0020339802 scopus 로고
    • Gene transfer into mouse lyoma cells by electroporation in high electric fields
    • Neumann E, Schaefer-Ridder M, Wang Y, Hofschneider PH. Gene transfer into mouse lyoma cells by electroporation in high electric fields. Embo J 1982; 1:841-845.
    • (1982) Embo J , vol.1 , pp. 841-845
    • Neumann, E.1    Schaefer-Ridder, M.2    Wang, Y.3    Hofschneider, P.H.4
  • 28
    • 0020494195 scopus 로고
    • Electric field-mediated fusion and related electrical phenomena
    • Zimmermann U. Electric field-mediated fusion and related electrical phenomena. Biochim Biophys Acta 1982; 694:227-277.
    • (1982) Biochim Biophys Acta , vol.694 , pp. 227-277
    • Zimmermann, U.1
  • 29
    • 0023447252 scopus 로고
    • Lipofection: A highly efficient, lipid-mediated DNA-transfection procedure
    • Felgner PL, Gadek TR, Holm M, et al. Lipofection: a highly efficient, lipid-mediated DNA-transfection procedure. Proc Natl Acad Sci U S A 1987; 84:7413-7417.
    • (1987) Proc Natl Acad Sci U S A , vol.84 , pp. 7413-7417
    • Felgner, P.L.1    Gadek, T.R.2    Holm, M.3
  • 30
    • 0002515165 scopus 로고    scopus 로고
    • Dual-Luciferase™ reporter assay: An advanced co-reporter technology integrating firefly and renilla luciferase assays
    • Sherf B, Navarro S, Hannah R, Wood K. Dual-Luciferase™ reporter assay: an advanced co-reporter technology integrating firefly and renilla luciferase assays. Promega Notes 1996; (57):2-9.
    • (1996) Promega Notes , vol.57 , pp. 2-9
    • Sherf, B.1    Navarro, S.2    Hannah, R.3    Wood, K.4
  • 31
    • 0017582130 scopus 로고
    • Purification and properties of Renilla reniformis luciferase
    • Matthews JC, Hori K, Cormier MJ. Purification and properties of Renilla reniformis luciferase. Biochemistry 1977; 16:85-91.
    • (1977) Biochemistry , vol.16 , pp. 85-91
    • Matthews, J.C.1    Hori, K.2    Cormier, M.J.3
  • 32
    • 0030452127 scopus 로고    scopus 로고
    • Regulatory mutations in the human lipoprotein lipase gene in patients with familial combined hyperlipidemia and coronary artery disease
    • Yang WS, Nevin DN, Iwasaki L, et al. Regulatory mutations in the human lipoprotein lipase gene in patients with familial combined hyperlipidemia and coronary artery disease. J Lipid Res 1996; 37:2627-2637.
    • (1996) J Lipid Res , vol.37 , pp. 2627-2637
    • Yang, W.S.1    Nevin, D.N.2    Iwasaki, L.3
  • 33
    • 0042359360 scopus 로고    scopus 로고
    • Functional analysis of human promoter polymorphisms
    • Hoogendoorn B, Coleman SL, Guy CA, et al. Functional analysis of human promoter polymorphisms. Hum Mol Genet 2003; 12:2249-2254.
    • (2003) Hum Mol Genet , vol.12 , pp. 2249-2254
    • Hoogendoorn, B.1    Coleman, S.L.2    Guy, C.A.3
  • 34
    • 7044231595 scopus 로고    scopus 로고
    • A high proportion of polymorphisms in the promoters of brain expressed genes influences transcriptional activity
    • Buckland PR, Hoogendoorn B, Guy CA, et al. A high proportion of polymorphisms in the promoters of brain expressed genes influences transcriptional activity. Biochim Biophys Acta 2004; 1690:238-249.
    • (2004) Biochim Biophys Acta , vol.1690 , pp. 238-249
    • Buckland, P.R.1    Hoogendoorn, B.2    Guy, C.A.3
  • 35
    • 24344500097 scopus 로고    scopus 로고
    • Strong bias in the location of functional promoter polymorphisms
    • • This is very important when designing future searches of regulatory polymorphisms
    • Buckland PR, Hoogendoorn B, Coleman SL, et al. Strong bias in the location of functional promoter polymorphisms. Hum Mutat 2005; 26:214-223. • This is very important when designing future searches of regulatory polymorphisms.
    • (2005) Hum Mutat , vol.26 , pp. 214-223
    • Buckland, P.R.1    Hoogendoorn, B.2    Coleman, S.L.3
  • 36
    • 29644433004 scopus 로고    scopus 로고
    • The importance and identification of regulatory polymorphisms and their mechanisms of action
    • Acta, •• This is a very good review on the basics of regulatory polymorphisms
    • Buckland PR. The importance and identification of regulatory polymorphisms and their mechanisms of action. Biochim Biophys Acta 2006; 1762:17-28. •• This is a very good review on the basics of regulatory polymorphisms.
    • (2006) Biochim Biophys , vol.1762 , pp. 17-28
    • Buckland, P.R.1
  • 37
    • 24944551263 scopus 로고    scopus 로고
    • Mottagui-Tabar S, Faghihi MA, Mizuno Y, et al. Identification of functional SNPs in the 5-prime flanking sequences of human genes. BMC Genomics 2005; 6:18. • This describes a simple, but efficient method for the bulk analysis of rSNPs.
    • Mottagui-Tabar S, Faghihi MA, Mizuno Y, et al. Identification of functional SNPs in the 5-prime flanking sequences of human genes. BMC Genomics 2005; 6:18. • This describes a simple, but efficient method for the bulk analysis of rSNPs.


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.