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Volumn 27, Issue 8, 2010, Pages 1945-1954

Polymorphisms in the CPB2 gene are maintained by balancing selection and result in haplotype-preferential splicing of exon 7

Author keywords

alternative splicing; balancing selection; CPB2; thrombin activatable fibrinolysis inhibitor

Indexed keywords

NUCLEOTIDE; THROMBIN ACTIVATABLE FIBRINOLYSIS INHIBITOR; PROTEIN PRECURSOR;

EID: 77955000813     PISSN: 07374038     EISSN: 15371719     Source Type: Journal    
DOI: 10.1093/molbev/msq082     Document Type: Article
Times cited : (12)

References (55)
  • 1
    • 50949115276 scopus 로고    scopus 로고
    • Overdominance in the human genome and olfactory receptor activity
    • Alonso S, Lopez S, Izagirre N, de la Rua C. 2008. Overdominance in the human genome and olfactory receptor activity. Mol Biol Evol. 25:997-1001.
    • (2008) Mol Biol Evol , vol.25 , pp. 997-1001
    • Alonso, S.1    Lopez, S.2    Izagirre, N.3    De La Rua, C.4
  • 2
    • 0032900678 scopus 로고    scopus 로고
    • Median-joining networks for inferring intraspecific phylogenies
    • Bandelt HJ, Forster P, Rohl A. 1999. Median-joining networks for inferring intraspecific phylogenies. Mol Biol Evol. 16:37-48.
    • (1999) Mol Biol Evol , vol.16 , pp. 37-48
    • Bandelt, H.J.1    Forster, P.2    Rohl, A.3
  • 3
    • 13444269543 scopus 로고    scopus 로고
    • Haploview: Analysis and visualization of LD and haplotype maps
    • Barrett JC, Fry B, Maller J, Daly MJ. 2005. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21: 263-265.
    • (2005) Bioinformatics , vol.21 , pp. 263-265
    • Barrett, J.C.1    Fry, B.2    Maller, J.3    Daly, M.J.4
  • 4
    • 63649161340 scopus 로고    scopus 로고
    • Prothrombotic polymorphisms, mutations, and their association with pediatric non-cardioembolic stroke in asian-indian patients
    • Biswas A, Tiwari AK, Ranjan R, Meena A, Akhter MS, Yadav BK, Behari M, Saxena R. 2009. Prothrombotic polymorphisms, mutations, and their association with pediatric non-cardioembolic stroke in asian-indian patients. Ann Hematol. 88:473-478.
    • (2009) Ann Hematol , vol.88 , pp. 473-478
    • Biswas, A.1    Tiwari, A.K.2    Ranjan, R.3    Meena, A.4    Akhter, M.S.5    Yadav, B.K.6    Behari, M.7    Saxena, R.8
  • 5
    • 33947585401 scopus 로고    scopus 로고
    • Curiouser and curiouser: Recent advances in measurement of thrombin-activatable fibrinolysis inhibitor (TAFI) and in understanding its molecular genetics, gene regulation, and biological roles
    • Boffa MB, Koschinsky ML. 2007. Curiouser and curiouser: recent advances in measurement of thrombin-activatable fibrinolysis inhibitor (TAFI) and in understanding its molecular genetics, gene regulation, and biological roles. Clin Biochem. 40:431-442.
    • (2007) Clin Biochem , vol.40 , pp. 431-442
    • Boffa, M.B.1    Koschinsky, M.L.2
  • 6
    • 38049153468 scopus 로고    scopus 로고
    • Effect of single nucleotide polymorphisms on expression of the gene encoding thrombin-activatable fibrinolysis inhibitor: A functional analysis
    • Boffa MB, Maret D, Hamill JD, et al. (12 co-authors). 2008. Effect of single nucleotide polymorphisms on expression of the gene encoding thrombin-activatable fibrinolysis inhibitor: a functional analysis. Blood. 111:183-189.
    • (2008) Blood , vol.111 , pp. 183-189
    • Boffa, M.B.1    Maret, D.2    Hamill, J.D.3
  • 7
    • 0031915389 scopus 로고    scopus 로고
    • Plasma and recombinant thrombin-activable fibrinolysis inhibitor (TAFI) and activated TAFI compared with respect to glycosylation, thrombin/ thrombomodulin-dependent activation, thermal stability, and enzymatic properties
    • Boffa MB, Wang W, Bajzar L, Nesheim ME. 1998. Plasma and recombinant thrombin-activable fibrinolysis inhibitor (TAFI) and activated TAFI compared with respect to glycosylation, thrombin/thrombomodulin-dependent activation, thermal stability, and enzymatic properties. J Biol Chem. 273:2127-2135.
    • (1998) J Biol Chem , vol.273 , pp. 2127-2135
    • Boffa, M.B.1    Wang, W.2    Bajzar, L.3    Nesheim, M.E.4
  • 8
    • 39449126006 scopus 로고    scopus 로고
    • Biochemical importance of glycosylation in thrombin activatable fibrinolysis inhibitor
    • DOI 10.1161/CIRCRESAHA.107.157099
    • Buelens K, Hillmayer K, Compernolle G, Declerck PJ, Gils A. 2008. Biochemical importance of glycosylation in thrombin activatable fibrinolysis inhibitor. Circ Res. 102:295-301. (Pubitemid 351271649)
    • (2008) Circulation Research , vol.102 , Issue.3 , pp. 295-301
    • Buelens, K.1    Hillmayer, K.2    Compernolle, G.3    Declerck, P.J.4    Gils, A.5
  • 9
    • 27144539145 scopus 로고    scopus 로고
    • Natural selection on protein-coding genes in the human genome
    • Bustamante CD, Fledel-Alon A, Williamson S, et al. (14 co-authors). 2005. Natural selection on protein-coding genes in the human genome. Nature 437:1153-1157.
    • (2005) Nature , vol.437 , pp. 1153-1157
    • Bustamante, C.D.1    Fledel-Alon, A.2    Williamson, S.3
  • 11
    • 0036191244 scopus 로고    scopus 로고
    • Inactivation of C3a and C5a octapeptides by carboxypeptidase R and carboxypeptidase N
    • Campbell WD, Lazoura E, Okada N, Okada H. 2002. Inactivation of C3a and C5a octapeptides by carboxypeptidase R and carboxypeptidase N. Microbiol Immunol. 46:131-134.
    • (2002) Microbiol Immunol , vol.46 , pp. 131-134
    • Campbell, W.D.1    Lazoura, E.2    Okada, N.3    Okada, H.4
  • 12
    • 34548840834 scopus 로고    scopus 로고
    • Comparative evaluation of stable TAFIa variants: Importance of alpha-helix 9 and beta-sheet 11 for TAFIa (in)stability
    • Ceresa E, De Maeyer M, Jonckheer A, Peeters M, Engelborghs Y, Declerck PJ, Gils A. 2007. Comparative evaluation of stable TAFIa variants: importance of alpha-helix 9 and beta-sheet 11 for TAFIa (in)stability. J Thromb Haemost. 5:2105-2112.
    • (2007) J Thromb Haemost , vol.5 , pp. 2105-2112
    • Ceresa, E.1    De Maeyer, M.2    Jonckheer, A.3    Peeters, M.4    Engelborghs, Y.5    Declerck, P.J.6    Gils, A.7
  • 13
  • 15
    • 67650470173 scopus 로고    scopus 로고
    • Thrombin-activatable fibrinolysis inhibitor - A inhibitors: Drugs for sepsis or drugs for disseminated intravascular coagulation?
    • Dempfle CE, Borggrefe M. 2009. Thrombin-activatable fibrinolysis inhibitor-a inhibitors: drugs for sepsis or drugs for disseminated intravascular coagulation? Crit Care Med. 37:1823-1824.
    • (2009) Crit Care Med , vol.37 , pp. 1823-1824
    • Dempfle, C.E.1    Borggrefe, M.2
  • 17
    • 0027453041 scopus 로고
    • Statistical tests of neutrality of mutations
    • Fu YX, Li WH. 1993. Statistical tests of neutrality of mutations. Genetics. 133:693-709.
    • (1993) Genetics , vol.133 , pp. 693-709
    • Fu, Y.X.1    Li, W.H.2
  • 18
    • 0037357461 scopus 로고    scopus 로고
    • Estimation of divergence times for major lineages of primate species
    • Glazko GV, Nei M. 2003. Estimation of divergence times for major lineages of primate species. Mol Biol Evol. 20:424-434.
    • (2003) Mol Biol Evol , vol.20 , pp. 424-434
    • Glazko, G.V.1    Nei, M.2
  • 19
    • 84972539388 scopus 로고
    • Ancestral inference in population genetics
    • Griffiths RC, Tavare S. 1994. Ancestral inference in population genetics. Stat Sci. 9:307-319.
    • (1994) Stat Sci , vol.9 , pp. 307-319
    • Griffiths, R.C.1    Tavare, S.2
  • 20
    • 0028905057 scopus 로고
    • Unrooted genealogical tree probabilities in the infinitely-many-sites model
    • Griffiths RC, Tavare S. 1995. Unrooted genealogical tree probabilities in the infinitely-many-sites model. Math Biosci. 127:77-98.
    • (1995) Math Biosci , vol.127 , pp. 77-98
    • Griffiths, R.C.1    Tavare, S.2
  • 21
    • 0035313252 scopus 로고    scopus 로고
    • Identification of polymorphisms in the promoter and the 3' region of the TAFI gene: Evidence that plasma TAFI antigen levels are strongly genetically controlled
    • Henry M, Aubert H, Morange PE, Nanni I, Alessi MC, Tiret L, Juhan-Vague I. 2001. Identification of polymorphisms in the promoter and the 3' region of the TAFI gene: evidence that plasma TAFI antigen levels are strongly genetically controlled. Blood 97:2053-2058.
    • (2001) Blood , vol.97 , pp. 2053-2058
    • Henry, M.1    Aubert, H.2    Morange, P.E.3    Nanni, I.4    Alessi, M.C.5    Tiret, L.6    Juhan-Vague, I.7
  • 22
    • 0023339852 scopus 로고
    • A test of neutral molecular evolution based on nucleotide data
    • Hudson RR, Kreitman M, Aguade M. 1987. A test of neutral molecular evolution based on nucleotide data. Genetics 116:153-159.
    • (1987) Genetics , vol.116 , pp. 153-159
    • Hudson, R.R.1    Kreitman, M.2    Aguade, M.3
  • 23
    • 58549117084 scopus 로고    scopus 로고
    • Fundamental concepts in genetics: Genetics and the understanding of selection
    • Hurst LD. 2009. Fundamental concepts in genetics: genetics and the understanding of selection. Nat Rev Genet. 10:83-93.
    • (2009) Nat Rev Genet , vol.10 , pp. 83-93
    • Hurst, L.D.1
  • 24
    • 0036091541 scopus 로고    scopus 로고
    • Plasma thrombin-activatable fibrinolysis inhibitor antigen concentration and genotype in relation to myocardial infarction in the north and south of europe
    • Juhan-Vague I, Morange PE, Aubert H, et al. (14 co-authors). 2002. Plasma thrombin-activatable fibrinolysis inhibitor antigen concentration and genotype in relation to myocardial infarction in the north and south of europe. Arterioscler Thromb Vasc Biol. 22:867-873.
    • (2002) Arterioscler Thromb Vasc Biol , vol.22 , pp. 867-873
    • Juhan-Vague, I.1    Morange, P.E.2    Aubert, H.3
  • 26
    • 33744802401 scopus 로고    scopus 로고
    • The effect of genetic variants in the thrombin activatable fibrinolysis inhibitor (TAFI) gene on TAFI-antigen levels, clot lysis time and the risk of venous thrombosis
    • Martini CH, Brandts A, de Bruijne EL, van Hylckama Vlieg A, Leebeek FW, Lisman T, Rosendaal FR 2006 The effect of genetic variants in the thrombin activatable fibrinolysis inhibitor (TAFI) gene on TAFI-antigen levels, clot lysis time and the risk of venous thrombosis. Br J Haematol. 134:92-94.
    • (2006) Br J Haematol , vol.134 , pp. 92-94
    • Martini, C.H.1    Brandts, A.2    De Bruijne, E.L.3    Van Hylckama Vlieg, A.4    Leebeek, F.W.5    Lisman, T.6    Rosendaal, F.R.7
  • 27
    • 53449101060 scopus 로고    scopus 로고
    • Crystal structures of TAFI elucidate the inactivation mechanism of activated TAFI: A novel mechanism for enzyme autoregulation
    • Marx PF, Brondijk TH, Plug T, Romijn RA, Hemrika W, Meijers JC, Huizinga EG. 2008. Crystal structures of TAFI elucidate the inactivation mechanism of activated TAFI: a novel mechanism for enzyme autoregulation. Blood 112:2803-2809.
    • (2008) Blood , vol.112 , pp. 2803-2809
    • Marx, P.F.1    Brondijk, T.H.2    Plug, T.3    Romijn, R.A.4    Hemrika, W.5    Meijers, J.C.6    Huizinga, E.G.7
  • 28
    • 1342346593 scopus 로고    scopus 로고
    • Generation and characterization of a highly stable form of activated thrombin-activable fibrinolysis inhibitor
    • Marx PF, Havik SR, Marquart JA, Bouma BN, Meijers JC. 2004. Generation and characterization of a highly stable form of activated thrombin-activable fibrinolysis inhibitor. J Biol Chem. 279:6620-6628.
    • (2004) J Biol Chem , vol.279 , pp. 6620-6628
    • Marx, P.F.1    Havik, S.R.2    Marquart, J.A.3    Bouma, B.N.4    Meijers, J.C.5
  • 29
    • 0033971420 scopus 로고    scopus 로고
    • A novel carboxy-peptidase B that processes native beta-amyloid precursor protein is present in human hippocampus
    • Matsumoto A, Itoh K, Matsumoto R. 2000. A novel carboxy-peptidase B that processes native beta-amyloid precursor protein is present in human hippocampus. Eur J Neurosci. 12:227-238.
    • (2000) Eur J Neurosci , vol.12 , pp. 227-238
    • Matsumoto, A.1    Itoh, K.2    Matsumoto, R.3
  • 30
    • 0037341621 scopus 로고    scopus 로고
    • Association between TAFI antigen and Ala147Thr polymorphism of the TAFI gene and the angina pectoris incidence
    • The PRIME study (prospective epidemiological study of MI)
    • Morange PE, Juhan-Vague I, Scarabin PY, et al. (11 co-authors). 2003. Association between TAFI antigen and Ala147Thr polymorphism of the TAFI gene and the angina pectoris incidence. The PRIME study (prospective epidemiological study of MI). Thromb Haemost. 89:554-560.
    • (2003) Thromb Haemost , vol.89 , pp. 554-560
    • Morange, P.E.1    Juhan-Vague, I.2    Scarabin, P.Y.3
  • 31
    • 25144516748 scopus 로고    scopus 로고
    • TAFI gene haplotypes, TAFI plasma levels and future risk of coronary heart disease: The PRIME study
    • Morange PE, Tregouet DA, Frere C, et al. (13 co-authors). 2005. TAFI gene haplotypes, TAFI plasma levels and future risk of coronary heart disease: the PRIME study. J Thromb Haemost. 3:1503-1510.
    • (2005) J Thromb Haemost , vol.3 , pp. 1503-1510
    • Morange, P.E.1    Tregouet, D.A.2    Frere, C.3
  • 33
    • 33750222459 scopus 로고    scopus 로고
    • Regulation of fibrinolysis by thrombin activatable fibrinolysis inhibitor, an unstable carboxypeptidase B that unites the pathways of coagulation and fibrinolysis
    • Mosnier LO, Bouma BN. 2006. Regulation of fibrinolysis by thrombin activatable fibrinolysis inhibitor, an unstable carboxypeptidase B that unites the pathways of coagulation and fibrinolysis. Arterioscler Thromb Vasc Biol. 26:2445-2453.
    • (2006) Arterioscler Thromb Vasc Biol , vol.26 , pp. 2445-2453
    • Mosnier, L.O.1    Bouma, B.N.2
  • 34
    • 67650470216 scopus 로고    scopus 로고
    • EF6265, a novel inhibitor of activated thrombin-activatable fibrinolysis inhibitor, protects against sepsis-induced organ dysfunction in rats
    • Muto Y, Suzuki K, Iida H, Sakakibara S, Kato E, Itoh F, Kakui N, Ishii H. 2009. EF6265, a novel inhibitor of activated thrombin-activatable fibrinolysis inhibitor, protects against sepsis-induced organ dysfunction in rats. Crit Care Med. 37:1744-1749.
    • (2009) Crit Care Med , vol.37 , pp. 1744-1749
    • Muto, Y.1    Suzuki, K.2    Iida, H.3    Sakakibara, S.4    Kato, E.5    Itoh, F.6    Kakui, N.7    Ishii, H.8
  • 37
    • 0005814023 scopus 로고
    • Mathematical model for studying genetic variation in terms of restriction endonucleases
    • Nei M, Li WH. 1979 Mathematical model for studying genetic variation in terms of restriction endonucleases. Proc Natl Acad Sci USA. 76:5269-5273.
    • (1979) Proc Natl Acad Sci USA , vol.76 , pp. 5269-5273
    • Nei, M.1    Li, W.H.2
  • 38
    • 5344244656 scopus 로고    scopus 로고
    • R Development Core Team. Vienna (Austria): R Foundation for Statistical Computing
    • R Development Core Team. 2008. R: a language and environment for statistical computing. Vienna (Austria): R Foundation for Statistical Computing.
    • (2008) R: A Language and Environment for Statistical Computing.
  • 39
    • 0033842913 scopus 로고    scopus 로고
    • MtDNA variation among Greenland Eskimos: The edge of the Beringian expansion
    • Saillard J, Forster P, Lynnerup N, Bandelt HJ, Norby S 2000 mtDNA variation among Greenland Eskimos: the edge of the Beringian expansion. Am J Hum Genet. 67:718-722.
    • (2000) Am J Hum Genet , vol.67 , pp. 718-722
    • Saillard, J.1    Forster, P.2    Lynnerup, N.3    Bandelt, H.J.4    Norby, S.5
  • 41
    • 0034661975 scopus 로고    scopus 로고
    • Pro-carboxypeptidase R is an acute phase protein in the mouse, whereas carboxypeptidase N is not
    • Sato T, Miwa T, Akatsu H, Matsukawa N, Obata K, Okada N, Campbell W, Okada H. 2000. Pro-carboxypeptidase R is an acute phase protein in the mouse, whereas carboxypeptidase N is not. J Immunol. 165:1053-1058.
    • (2000) J Immunol , vol.165 , pp. 1053-1058
    • Sato, T.1    Miwa, T.2    Akatsu, H.3    Matsukawa, N.4    Obata, K.5    Okada, N.6    Campbell, W.7    Okada, H.8
  • 42
    • 27544497650 scopus 로고    scopus 로고
    • Calibrating a coalescent simulation of human genome sequence variation
    • DOI 10.1101/gr.3709305
    • Schaffner SF, Foo C, Gabriel S, Reich D, Daly MJ, Altshuler D. 2005. Calibrating a coalescent simulation of human genome sequence variation. Genome Res. 15:1576-1583. (Pubitemid 41545011)
    • (2005) Genome Research , vol.15 , Issue.11 , pp. 1576-1583
    • Schaffner, S.F.1    Foo, C.2    Gabriel, S.3    Reich, D.4    Daly, M.J.5    Altshuler, D.6
  • 43
    • 0037059828 scopus 로고    scopus 로고
    • Two naturally occurring variants of TAFI (thr-325 and ile-325) differ substantially with respect to thermal stability and antifibrinolytic activity of the enzyme
    • Schneider M, Boffa M, Stewart R, Rahman M, Koschinsky M, Nesheim M. 2002. Two naturally occurring variants of TAFI (thr-325 and ile-325) differ substantially with respect to thermal stability and antifibrinolytic activity of the enzyme. J Biol Chem. 277:1021-1030.
    • (2002) J Biol Chem , vol.277 , pp. 1021-1030
    • Schneider, M.1    Boffa, M.2    Stewart, R.3    Rahman, M.4    Koschinsky, M.5    Nesheim, M.6
  • 44
    • 13844270527 scopus 로고    scopus 로고
    • Accounting for decay of linkage disequilibrium in haplotype inference and missing-data imputation
    • Stephens M, Scheet P. 2005. Accounting for decay of linkage disequilibrium in haplotype inference and missing-data imputation. Am J Hum Genet. 76:449-462.
    • (2005) Am J Hum Genet , vol.76 , pp. 449-462
    • Stephens, M.1    Scheet, P.2
  • 45
    • 0024313579 scopus 로고
    • Statistical method for testing the neutral mutation hypothesis by DNA polymorphism
    • Tajima F. 1989. Statistical method for testing the neutral mutation hypothesis by DNA polymorphism. Genetics 123:585-595.
    • (1989) Genetics , vol.123 , pp. 585-595
    • Tajima, F.1
  • 48
    • 0344464730 scopus 로고    scopus 로고
    • Libsequence: A C\+\+ class library for evolutionary genetic analysis
    • Thornton K. 2003. Libsequence: a C\+\+ class library for evolutionary genetic analysis. Bioinformatics 19:2325-2327.
    • (2003) Bioinformatics , vol.19 , pp. 2325-2327
    • Thornton, K.1
  • 49
    • 0242524432 scopus 로고    scopus 로고
    • Patterns of human genetic diversity: Implications for human evolutionary history and disease
    • Tishkoff SA, Verrelli BC. 2003. Patterns of human genetic diversity: implications for human evolutionary history and disease. Annu Rev Genomics Hum Genet. 4:293-340.
    • (2003) Annu Rev Genomics Hum Genet , vol.4 , pp. 293-340
    • Tishkoff, S.A.1    Verrelli, B.C.2
  • 50
    • 33645786590 scopus 로고    scopus 로고
    • DbRIP: A highly integrated database of retrotransposon insertion polymorphisms in humans
    • Wang J, Song L, Grover D, Azrak S, Batzer MA, Liang P. 2006. dbRIP: a highly integrated database of retrotransposon insertion polymorphisms in humans. Hum Mutat. 27:323-329.
    • (2006) Hum Mutat , vol.27 , pp. 323-329
    • Wang, J.1    Song, L.2    Grover, D.3    Azrak, S.4    Batzer, M.A.5    Liang, P.6
  • 52
    • 0016491430 scopus 로고
    • On the number of segregating sites in genetical models without recombination
    • Watterson GA. 1975. On the number of segregating sites in genetical models without recombination. Theor Popul Biol. 7:256-276.
    • (1975) Theor Popul Biol , vol.7 , pp. 256-276
    • Watterson, G.A.1
  • 53
    • 29744453508 scopus 로고    scopus 로고
    • Measurement of procarboxypepti-dase U (TAFI) in human plasma: A laboratory challenge
    • Willemse JL, Hendriks DF. 2006. Measurement of procarboxypepti-dase U (TAFI) in human plasma: a laboratory challenge. Clin Chem. 52:30-36.
    • (2006) Clin Chem , vol.52 , pp. 30-36
    • Willemse, J.L.1    Hendriks, D.F.2
  • 54
    • 65449180750 scopus 로고    scopus 로고
    • The roles of selected arginine and lysine residues of TAFI (pro-CPU) in its activation to TAFIa by the thrombin-thrombomodulin complex
    • Wu C, Kim PY, Manuel R, Seto M, Whitlow M, Nagashima M, Morser J, Gils A, Declerck P, Nesheim ME. 2009. The roles of selected arginine and lysine residues of TAFI (pro-CPU) in its activation to TAFIa by the thrombin-thrombomodulin complex. J Biol Chem. 284:7059-7067.
    • (2009) J Biol Chem , vol.284 , pp. 7059-7067
    • Wu, C.1    Kim, P.Y.2    Manuel, R.3    Seto, M.4    Whitlow, M.5    Nagashima, M.6    Morser, J.7    Gils, A.8    Declerck, P.9    Nesheim, M.E.10
  • 55
    • 33645462359 scopus 로고    scopus 로고
    • Spread of an inactive form of caspase-12 in humans is due to recent positive selection
    • Xue Y, Daly A, Yngvadottir B, et al. (14 co-authors). 2006. Spread of an inactive form of caspase-12 in humans is due to recent positive selection. Am J Hum Genet. 78:659-670.
    • (2006) Am J Hum Genet , vol.78 , pp. 659-670
    • Xue, Y.1    Daly, A.2    Yngvadottir, B.3


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