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Volumn 35, Issue 5, 2003, Pages 308-315

Polymorphically duplicated genes: Their relevance to phenotypic variation in humans

Author keywords

Gene dosage; Gene duplication; Genomic disorder

Indexed keywords

CATECHOL METHYLTRANSFERASE; CYTOCHROME P450 2A1; CYTOCHROME P450 2D6; GLUTATHIONE TRANSFERASE; IMMUNOGLOBULIN HEAVY CHAIN; NEUROLEPTIC AGENT; TRICYCLIC ANTIDEPRESSANT AGENT;

EID: 0041386350     PISSN: 07853890     EISSN: None     Source Type: Journal    
DOI: 10.1080/07853890310001276     Document Type: Short Survey
Times cited : (66)

References (48)
  • 1
    • 0035014731 scopus 로고    scopus 로고
    • Segmental Duplications: What's missing, misas-signed, and misassembled and should we care?
    • Eichler EE. Segmental Duplications: What's missing, misas-signed, and misassembled and should we care? Genet Res 2001a; 11: 653-6.
    • (2001) Genet Res , vol.11 , pp. 653-656
    • Eichler, E.E.1
  • 2
    • 0035500899 scopus 로고    scopus 로고
    • Recent duplication, domain accretion and the dynamic mutation of the human genome
    • Eichler EE. Recent duplication, domain accretion and the dynamic mutation of the human genome. Trends Genet 2001b; 17: 661-9.
    • (2001) Trends Genet , vol.17 , pp. 661-669
    • Eichler, E.E.1
  • 4
    • 0035865257 scopus 로고    scopus 로고
    • Integration of cytogenetic landmarks into the draft sequence of the human genome
    • The BAC Resource Consortium. Integration of cytogenetic landmarks into the draft sequence of the human genome. Nature 2002; 409: 953-8.
    • (2002) Nature , vol.409 , pp. 953-958
  • 5
    • 0031754413 scopus 로고    scopus 로고
    • Pathological consequences of Sequence duplications in the human genome
    • Mazzarella R, Schlessinger D. Pathological consequences of Sequence duplications in the human genome. Genome Res 1998; 8: 1007-21.
    • (1998) Genome Res , vol.8 , pp. 1007-1021
    • Mazzarella, R.1    Schlessinger, D.2
  • 6
    • 0034028921 scopus 로고    scopus 로고
    • Structure of chromosomal duplicons and their role in mediating human genomic disorders
    • Ji Y, Eichler EE, Schwartz S, Nicholls RD. Structure of chromosomal duplicons and their role in mediating human genomic disorders. Genome Res 2000; 10: 597-610.
    • (2000) Genome Res , vol.10 , pp. 597-610
    • Ji, Y.1    Eichler, E.E.2    Schwartz, S.3    Nicholls, R.D.4
  • 7
    • 0035487212 scopus 로고    scopus 로고
    • Segmental duplications: An 'expanding' role in genomic instability and disease
    • Emanuel BS, Shaikh TH. Segmental duplications: An 'expanding' role in genomic instability and disease. Nat Rev Genet 2001; 2: 791-800.
    • (2001) Nat Rev Genet , vol.2 , pp. 791-800
    • Emanuel, B.S.1    Shaikh, T.H.2
  • 8
    • 0036468807 scopus 로고    scopus 로고
    • Genome architecture, rearrangements and genomic disorders
    • Stankiewicz P, Lupski J R. Genome architecture, rearrangements and genomic disorders. Trends Genet 2002; 18: 74-82.
    • (2002) Trends Genet , vol.18 , pp. 74-82
    • Stankiewicz, P.1    Lupski, J.R.2
  • 13
    • 17944367325 scopus 로고    scopus 로고
    • A polymorphic genomic duplication on human chromosome 15 is a susceptibility factor for panic and phobic disorders
    • Gratacòs M, Nadal M, Martin-Santos R, Pujana MA, Gago J, Peral B, et al. A polymorphic genomic duplication on human chromosome 15 is a susceptibility factor for panic and phobic disorders. Cell 2001; 106: 367-79.
    • (2001) Cell , vol.106 , pp. 367-379
    • Gratacòs, M.1    Nadal, M.2    Martin-Santos, R.3    Pujana, M.A.4    Gago, J.5    Peral, B.6
  • 15
    • 0037194641 scopus 로고    scopus 로고
    • Frequent occurrence of CYP2D6*10 duplication allele in a Japanese population
    • Mitsunaga Y, Kubota T, Ishiguro A, Yamada Y, Sasaki H, Chiba K, et al. Frequent occurrence of CYP2D6*10 duplication allele in a Japanese population. Mutat Res 2002; 505: 83-5.
    • (2002) Mutat Res , vol.505 , pp. 83-85
    • Mitsunaga, Y.1    Kubota, T.2    Ishiguro, A.3    Yamada, Y.4    Sasaki, H.5    Chiba, K.6
  • 16
    • 0031949132 scopus 로고    scopus 로고
    • 10-Hydroxylation of nortryptyline in white persons with 0, 1, 2, 3 and 13 functional CYP2D6 genes
    • Dalen P, Dahl ML, Ruiz ML, Nordin J, Bertilsson L. 10-hydroxylation of nortryptyline in white persons with 0, 1, 2, 3 and 13 functional CYP2D6 genes. Clin Pharmacol Ther 1998; 63: 444-52.
    • (1998) Clin Pharmacol Ther , vol.63 , pp. 444-452
    • Dalen, P.1    Dahl, M.L.2    Ruiz, M.L.3    Nordin, J.4    Bertilsson, L.5
  • 17
    • 0036821001 scopus 로고    scopus 로고
    • Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: Characteristics of three unusual haplotypes
    • Koppens PJ, Hoogenboezem T, Degenhart HJ. Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: characteristics of three unusual haplotypes. Hum Gen 2002; 111: 405-10.
    • (2002) Hum Gen , vol.111 , pp. 405-410
    • Koppens, P.J.1    Hoogenboezem, T.2    Degenhart, H.J.3
  • 18
    • 0033807421 scopus 로고    scopus 로고
    • Duplications and defects in the CYP2A6 gene: Identification, genotyping, and in vivo effects on smoking
    • Rao Y, Hoffmann E, Zia M, Bodin L, Zeman M, Sellers EM, et al. Duplications and defects in the CYP2A6 gene: identification, genotyping, and in vivo effects on smoking. Mol Pharmacol 2000; 58: 747-55.
    • (2000) Mol Pharmacol , vol.58 , pp. 747-755
    • Rao, Y.1    Hoffmann, E.2    Zia, M.3    Bodin, L.4    Zeman, M.5    Sellers, E.M.6
  • 20
    • 0031456155 scopus 로고    scopus 로고
    • Characterization of a human glutathione S-transferase mu cluster containing a duplicated GSTM1 gene that causes ultrarapid enzyme activity
    • McLellan RA, Oscarson M, Alexandrie AK, Seidegard J, Evans DA, Rannug A, et al. Characterization of a human glutathione S-transferase mu cluster containing a duplicated GSTM1 gene that causes ultrarapid enzyme activity. Mol Pharmacol 1997: 958-65.
    • (1997) Mol Pharmacol , pp. 958-965
    • McLellan, R.A.1    Oscarson, M.2    Alexandrie, A.K.3    Seidegard, J.4    Evans, D.A.5    Rannug, A.6
  • 21
    • 0036154959 scopus 로고    scopus 로고
    • Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy
    • Feldkötter M, Schwarzer V, Wirth R, Wienker TF, Wirth B. Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet 2002; 70: 358-68.
    • (2002) Am J Hum Genet , vol.70 , pp. 358-368
    • Feldkötter, M.1    Schwarzer, V.2    Wirth, R.3    Wienker, T.F.4    Wirth, B.5
  • 22
    • 0031030666 scopus 로고    scopus 로고
    • Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophy
    • Schwartz M, Sørensen N, Hansen FJ, Hertz JM, Nørby S, Tranebjærg L, et al. Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophy. Hum Mol Genet 1997; 6: 99-104.
    • (1997) Hum Mol Genet , vol.6 , pp. 99-104
    • Schwartz, M.1    Sørensen, N.2    Hansen, F.J.3    Hertz, J.M.4    Nørby, S.5    Tranebjærg, L.6
  • 23
    • 0029833330 scopus 로고    scopus 로고
    • Duplications and deletions of the human IGHC locus: Evolutionary implications
    • Rabbani H, Pan Q, Kondo N, Smith CI, Hammarström L. Duplications and deletions of the human IGHC locus: evolutionary implications. Immunogenetics 1996; 45: 136-41.
    • (1996) Immunogenetics , vol.45 , pp. 136-141
    • Rabbani, H.1    Pan, Q.2    Kondo, N.3    Smith, C.I.4    Hammarström, L.5
  • 24
  • 25
    • 0035666864 scopus 로고    scopus 로고
    • Regulation of switching and production of IgA in human B cells in donors with duplicated alphal genes
    • Pan Q, Petit-Frere C, Dai S, Huang P, Morton HC, Brandtzaeg P, et al. Regulation of switching and production of IgA in human B cells in donors with duplicated alphal genes. Eur J Immunol 2001; 31: 3622-30.
    • (2001) Eur J Immunol , vol.31 , pp. 3622-3630
    • Pan, Q.1    Petit-Frere, C.2    Dai, S.3    Huang, P.4    Morton, H.C.5    Brandtzaeg, P.6
  • 26
    • 0033990843 scopus 로고    scopus 로고
    • Allele-specific variation in the gene copy number of human cytosine 5-methyltransferase
    • Franchina M, Kay PH. Allele-specific variation in the gene copy number of human cytosine 5-methyltransferase. Hum Hered 2000; 50: 112-7.
    • (2000) Hum Hered , vol.50 , pp. 112-117
    • Franchina, M.1    Kay, P.H.2
  • 27
    • 0036870174 scopus 로고    scopus 로고
    • DNMT1 gene copy number does not influence susceptibility to development of malignant lympho-proliferative disease
    • Franchina M, Kay PH. DNMT1 gene copy number does not influence susceptibility to development of malignant lympho-proliferative disease. Anticancer Res 2002; 22: 3405-7.
    • (2002) Anticancer Res , vol.22 , pp. 3405-3407
    • Franchina, M.1    Kay, P.H.2
  • 29
    • 0036772531 scopus 로고    scopus 로고
    • Gene copy number regulates the production of the human chemokine CCL3-L1
    • Townson JR, Barcellos LF, Nibbs RJ. Gene copy number regulates the production of the human chemokine CCL3-L1. Eur J Immunol 2002; 32: 3016-26.
    • (2002) Eur J Immunol , vol.32 , pp. 3016-3026
    • Townson, J.R.1    Barcellos, L.F.2    Nibbs, R.J.3
  • 30
    • 0036795904 scopus 로고    scopus 로고
    • 8p23 duplication reconsidered: Is it a true euchromatic variant with no clinical manifestations?
    • Tsai C-H, Graw SL, McGavran L. 8p23 duplication reconsidered: is it a true euchromatic variant with no clinical manifestations? J Med Genet 2002; 39: 769-74.
    • (2002) J Med Genet , vol.39 , pp. 769-774
    • Tsai, C.-H.1    Graw, S.L.2    McGavran, L.3
  • 31
    • 6844242311 scopus 로고    scopus 로고
    • Members of the olfactory receptor gene family are contained in large blocks of DNA duplicated polymorphically near the ends of human chromosomes
    • Trask BJ, Friedman C, Martin-Gallardo A, Rowen L, Akinbami C, Blankenship J, et al. Members of the olfactory receptor gene family are contained in large blocks of DNA duplicated polymorphically near the ends of human chromosomes. Hum Mol Genet 1998; 7: 13-26.
    • (1998) Hum Mol Genet , vol.7 , pp. 13-26
    • Trask, B.J.1    Friedman, C.2    Martin-Gallardo, A.3    Rowen, L.4    Akinbami, C.5    Blankenship, J.6
  • 32
    • 0035504778 scopus 로고    scopus 로고
    • Transcriptional activity of multiple copies of a subtelomerically located olfactory receptor gene that is polymorphic in number and location
    • Linardopoulou E, Mefford HC, Nguyen O, Friedman C, van den Engh G, Farwel DG, et al. Transcriptional activity of multiple copies of a subtelomerically located olfactory receptor gene that is polymorphic in number and location. Hum Mol Genet 2001; 10: 2373-83.
    • (2001) Hum Mol Genet , vol.10 , pp. 2373-2383
    • Linardopoulou, E.1    Mefford, H.C.2    Nguyen, O.3    Friedman, C.4    Van Den Engh, G.5    Farwel, D.G.6
  • 33
    • 0036196707 scopus 로고    scopus 로고
    • Organisation of the pericentromeric region of chromosome 15: At least four partial gene copies are amplified in patients with a proximal duplication of 15q
    • Fantes JA, Mewborn SK, Lese CM, Hedrick J, Brown RL, Dyomin V, et al. Organisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15q. J Med Genet 2002; 39: 170-7.
    • (2002) J Med Genet , vol.39 , pp. 170-177
    • Fantes, J.A.1    Mewborn, S.K.2    Lese, C.M.3    Hedrick, J.4    Brown, R.L.5    Dyomin, V.6
  • 35
    • 0032168029 scopus 로고    scopus 로고
    • Genomic organization and partial duplication of the human alpha7 neuronal nicotinic acetylcholine receptor gene (CHRNA7)
    • Gault J, Robinson M, Berger R, Drebing C, Logel J, Hopkins J, et al. Genomic organization and partial duplication of the human alpha7 neuronal nicotinic acetylcholine receptor gene (CHRNA7). Genomics 1998; 52: 173-85.
    • (1998) Genomics , vol.52 , pp. 173-185
    • Gault, J.1    Robinson, M.2    Berger, R.3    Drebing, C.4    Logel, J.5    Hopkins, J.6
  • 36
    • 0035704937 scopus 로고    scopus 로고
    • A 3-Mb map of a large segmental duplication overlapping the 7-nicotinic acetylcholine receptor gene (CHRNA7) at human 15q13-q14
    • Riley B, Williamson M, Collier D, Wilkie H, Makoff A. A 3-Mb Map of a Large Segmental Duplication Overlapping the 7-Nicotinic Acetylcholine Receptor Gene (CHRNA7) at Human 15q13-q14. Genomics 2002; 79: 197-209.
    • (2002) Genomics , vol.79 , pp. 197-209
    • Riley, B.1    Williamson, M.2    Collier, D.3    Wilkie, H.4    Makoff, A.5
  • 37
    • 0034924369 scopus 로고    scopus 로고
    • A 1.1-kb duplication in the p67-phox gene causes chronic granulomatous disease
    • Borgato L, Bonizzato A, Lunardi C, Dusi S, Andrioli G, Scarperi A, et al. A 1.1-kb duplication in the p67-phox gene causes chronic granulomatous disease. Hum Genet 2001; 108: 504-10.
    • (2001) Hum Genet , vol.108 , pp. 504-510
    • Borgato, L.1    Bonizzato, A.2    Lunardi, C.3    Dusi, S.4    Andrioli, G.5    Scarperi, A.6
  • 39
    • 0035856504 scopus 로고    scopus 로고
    • Psychiatric genetics: A frightful chromosome
    • Flint J. Psychiatric genetics: A frightful chromosome. Curr Biol 2001; 11: R907-9.
    • (2001) Curr Biol , vol.11
    • Flint, J.1
  • 40
    • 0035031859 scopus 로고    scopus 로고
    • Duplication of CYP2D6 predicts high clearance of desipramine but high clearance does not predict duplication of CYP2D6
    • Bergmann TK, Bathum L, Brosen K. Duplication of CYP2D6 predicts high clearance of desipramine but high clearance does not predict duplication of CYP2D6. Eur J Clin Pharmacol 2001; 57: 123-7.
    • (2001) Eur J Clin Pharmacol , vol.57 , pp. 123-127
    • Bergmann, T.K.1    Bathum, L.2    Brosen, K.3
  • 41
    • 0036488082 scopus 로고    scopus 로고
    • A patient with treatment-resistant schizophrenia and cytochrome P4502D6 gene duplication
    • Kawanishi C, Furuno T, Kishida I, Matsumura T, Kosaka K. A patient with treatment-resistant schizophrenia and cytochrome P4502D6 gene duplication. Clin Genet 2002; 61: 152-54.
    • (2002) Clin Genet , vol.61 , pp. 152-154
    • Kawanishi, C.1    Furuno, T.2    Kishida, I.3    Matsumura, T.4    Kosaka, K.5
  • 42
    • 17844400295 scopus 로고    scopus 로고
    • Functionally active duplications of the CYP2D6 gene are more prevalent among larynx and lung cancer patients
    • Agúndez JA, Gallardo L, Ledesma MC, Lozano L, Rodriguez-Lescure A, Pontes JC, et al. Functionally active duplications of the CYP2D6 gene are more prevalent among larynx and lung cancer patients. Oncology 2001; 61: 59-63.
    • (2001) Oncology , vol.61 , pp. 59-63
    • Agúndez, J.A.1    Gallardo, L.2    Ledesma, M.C.3    Lozano, L.4    Rodriguez-Lescure, A.5    Pontes, J.C.6
  • 45
    • 0037308528 scopus 로고    scopus 로고
    • Genes for schizophrenia? Recent findings and their pathophysiological implications
    • Harrison P, Owen MJ. Genes for schizophrenia? Recent findings and their pathophysiological implications. Lancet 2003; 361: 417-19.
    • (2003) Lancet , vol.361 , pp. 417-419
    • Harrison, P.1    Owen, M.J.2
  • 46
    • 0032585812 scopus 로고    scopus 로고
    • The Down syndrome critical region
    • Shapiro BL. The Down syndrome critical region. J. Neural Transm Suppl 1999; 57: 41-60.
    • (1999) J Neural Transm Suppl , vol.57 , pp. 41-60
    • Shapiro, B.L.1
  • 47
    • 0032585844 scopus 로고    scopus 로고
    • The "gene dosage effect" hypothesis versus the "amplified developmental instability" hypothesis in Down syndrome
    • Pritchard MA, Kola I. The "gene dosage effect" hypothesis versus the "amplified developmental instability" hypothesis in Down syndrome. J Neural Transm Suppl 1999; 57: 293-303.
    • (1999) J Neural Transm Suppl , vol.57 , pp. 293-303
    • Pritchard, M.A.1    Kola, I.2
  • 48
    • 0035252562 scopus 로고    scopus 로고
    • Too much of a good thing: Mechanisms of gene action in Down syndrome
    • Reeves RH, Baxter LL, Richtsmeier JT. Too much of a good thing: mechanisms of gene action in Down syndrome. Trends Genet 2001; 17: 83-8.
    • (2001) Trends Genet , vol.17 , pp. 83-88
    • Reeves, R.H.1    Baxter, L.L.2    Richtsmeier, J.T.3


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