메뉴 건너뛰기




Volumn 2, Issue 9, 2006, Pages 1375-1385

The influence of recombination on human genetic diversity

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 20; CONTROLLED STUDY; GENE CONVERSION; GENE INTERACTION; GENE MAPPING; GENE MUTATION; GENETIC RECOMBINATION; GENETIC VARIABILITY; HUMAN; MISMATCH REPAIR; MOLECULAR EVOLUTION; MOLECULAR GENETICS; NONHUMAN; ANIMAL; BASE PAIRING; DNA BASE COMPOSITION; GENE FREQUENCY; GENETICS; GENOME; MUTAGENESIS; PAN TROGLODYTES;

EID: 33749416027     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.0020148     Document Type: Article
Times cited : (207)

References (54)
  • 1
    • 0016220238 scopus 로고
    • The hitch-hiking effect of a favourable gene
    • Maynard Smith J, Haigh J (1974) The hitch-hiking effect of a favourable gene. Genet Res 23: 23-35.
    • (1974) Genet Res , vol.23 , pp. 23-35
    • Maynard Smith, J.1    Haigh, J.2
  • 2
    • 0031770039 scopus 로고    scopus 로고
    • DNA variability and recombination rates at X-linked loci in humans
    • Nachman MW, Bauer VL, Crowell SL, Aquadro CF (1998) DNA variability and recombination rates at X-linked loci in humans. Genetics 150: 1133-1141.
    • (1998) Genetics , vol.150 , pp. 1133-1141
    • Nachman, M.W.1    Bauer, V.L.2    Crowell, S.L.3    Aquadro, C.F.4
  • 3
    • 0035451450 scopus 로고    scopus 로고
    • Single nucleotide polymorphisms and recombination rate in humans
    • Nachman MW (2001) Single nucleotide polymorphisms and recombination rate in humans. Trends Genet 17: 481-485.
    • (2001) Trends Genet , vol.17 , pp. 481-485
    • Nachman, M.W.1
  • 4
    • 0036187510 scopus 로고    scopus 로고
    • Gene density and human nucleotide polymorphism
    • Payseur BA, Nachman MW (2002) Gene density and human nucleotide polymorphism. Mol Biol Evol 19: 336-340.
    • (2002) Mol Biol Evol , vol.19 , pp. 336-340
    • Payseur, B.A.1    Nachman, M.W.2
  • 5
    • 0024497416 scopus 로고
    • Mutation rates differ among regions of the mammalian genome
    • Wolfe KH, Sharp PM, Li WH (1989) Mutation rates differ among regions of the mammalian genome. Nature 337: 283-285.
    • (1989) Nature , vol.337 , pp. 283-285
    • Wolfe, K.H.1    Sharp, P.M.2    Li, W.H.3
  • 6
    • 0038015586 scopus 로고    scopus 로고
    • A neutral explanation for the correlation of diversity with recombination rates in humans
    • Hellmann I, Ebersberger I, Ptak SE, Paabo S, Przeworski M (2003) A neutral explanation for the correlation of diversity with recombination rates in humans. Am J Hum Genet 72: 1527-1535.
    • (2003) Am J Hum Genet , vol.72 , pp. 1527-1535
    • Hellmann, I.1    Ebersberger, I.2    Ptak, S.E.3    Paabo, S.4    Przeworski, M.5
  • 7
    • 0033828761 scopus 로고    scopus 로고
    • Estimate of the mutation rate per nucleotide in humans
    • Nachman MW, Crowell SL (2000) Estimate of the mutation rate per nucleotide in humans. Genetics 156: 297-304.
    • (2000) Genetics , vol.156 , pp. 297-304
    • Nachman, M.W.1    Crowell, S.L.2
  • 8
    • 0027183991 scopus 로고
    • Recombination and mammalian genome evolution
    • Eyre-Walker A (1993) Recombination and mammalian genome evolution. Proc R Soc Lond B Biol Sci 252: 237-243.
    • (1993) Proc R Soc Lond B Biol Sci , vol.252 , pp. 237-243
    • Eyre-Walker, A.1
  • 9
    • 1542347027 scopus 로고    scopus 로고
    • A gradient of silent substitution rate in the human pseudoautosomal region
    • Filatov DA (2004) A gradient of silent substitution rate in the human pseudoautosomal region. Mol Biol Evol 21: 410-417.
    • (2004) Mol Biol Evol , vol.21 , pp. 410-417
    • Filatov, D.A.1
  • 10
    • 24344455529 scopus 로고    scopus 로고
    • Why do human diversity levels vary at a megabase scale?
    • Hellmann I, Prufer K, Ji H, Zody MC, Paabo S, et al. (2005) Why do human diversity levels vary at a megabase scale? Genome Res 15: 1222-1231.
    • (2005) Genome Res , vol.15 , pp. 1222-1231
    • Hellmann, I.1    Prufer, K.2    Ji, H.3    Zody, M.C.4    Paabo, S.5
  • 11
    • 0036640951 scopus 로고    scopus 로고
    • Human SNP variability and mutation rate are higher in regions of high recombination
    • Lercher MJ, Hurst LD (2002) Human SNP variability and mutation rate are higher in regions of high recombination. Trends Genet 18: 337-340.
    • (2002) Trends Genet , vol.18 , pp. 337-340
    • Lercher, M.J.1    Hurst, L.D.2
  • 12
    • 0027305597 scopus 로고
    • The effect of deleterious mutations on neutral molecular variation
    • Charlesworth B, Morgan MT, Charlesworth D (1993) The effect of deleterious mutations on neutral molecular variation. Genetics 134: 1289-1303.
    • (1993) Genetics , vol.134 , pp. 1289-1303
    • Charlesworth, B.1    Morgan, M.T.2    Charlesworth, D.3
  • 13
    • 2042437650 scopus 로고    scopus 로고
    • Initial sequencing and analysis of the human genome
    • International Human Genome Sequencing Consortium
    • International Human Genome Sequencing Consortium (2001) Initial sequencing and analysis of the human genome. Nature 409: 860-921.
    • (2001) Nature , vol.409 , pp. 860-921
  • 14
    • 26844482093 scopus 로고    scopus 로고
    • A fine-scale map of recombination rates and hotspots across the human genome
    • Myers S, Bottolo L, Freeman C, McVean G, Donnelly P (2005) A fine-scale map of recombination rates and hotspots across the human genome. Science 310: 321-324.
    • (2005) Science , vol.310 , pp. 321-324
    • Myers, S.1    Bottolo, L.2    Freeman, C.3    McVean, G.4    Donnelly, P.5
  • 15
    • 33344454852 scopus 로고    scopus 로고
    • Human polymorphism and human-chimpanzee divergence in pseudoautosomal region correlate with local recombination rate
    • Bussell JJ, Pearson NM, Kanda R, Filatov DA, Lahn BT (2006) Human polymorphism and human-chimpanzee divergence in pseudoautosomal region correlate with local recombination rate. Gene 368: 94-100.
    • (2006) Gene , vol.368 , pp. 94-100
    • Bussell, J.J.1    Pearson, N.M.2    Kanda, R.3    Filatov, D.A.4    Lahn, B.T.5
  • 16
    • 0242321825 scopus 로고    scopus 로고
    • High mutation rates in human and ape pseudoautosomal genes
    • Filatov DA, Gerrard DT (2003) High mutation rates in human and ape pseudoautosomal genes. Gene 317: 67-77.
    • (2003) Gene , vol.317 , pp. 67-77
    • Filatov, D.A.1    Gerrard, D.T.2
  • 18
    • 0034795550 scopus 로고    scopus 로고
    • Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex
    • Jeffreys AJ, Kauppi L, Neumann R (2001) Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex. Nat Genet 29: 217-222.
    • (2001) Nat Genet , vol.29 , pp. 217-222
    • Jeffreys, A.J.1    Kauppi, L.2    Neumann, R.3
  • 19
    • 2142773942 scopus 로고    scopus 로고
    • The fine-scale structure of recombination rate variation in the human genome
    • McVean GA, Myers SR, Hunt S, Deloukas P, Bentley DR, et al. (2004) The fine-scale structure of recombination rate variation in the human genome. Science 304: 581-584.
    • (2004) Science , vol.304 , pp. 581-584
    • McVean, G.A.1    Myers, S.R.2    Hunt, S.3    Deloukas, P.4    Bentley, D.R.5
  • 20
    • 3042700117 scopus 로고    scopus 로고
    • Evidence for substantial fine-scale variation in recombination rates across the human genome
    • Crawford DC, Bhangale T, Li N, Hellenthal G, Rieder MJ, et al. (2004) Evidence for substantial fine-scale variation in recombination rates across the human genome. Nat Genet 36: 700-706.
    • (2004) Nat Genet , vol.36 , pp. 700-706
    • Crawford, D.C.1    Bhangale, T.2    Li, N.3    Hellenthal, G.4    Rieder, M.J.5
  • 21
    • 79959524146 scopus 로고    scopus 로고
    • A haplotype map of the human genome
    • The International HapMap Consortium
    • The International HapMap Consortium (2005) A haplotype map of the human genome. Nature 437: 1299-1320.
    • (2005) Nature , vol.437 , pp. 1299-1320
  • 22
    • 27544439643 scopus 로고    scopus 로고
    • Genetically indistinguishable SNPs and their influence on inferring the location of disease-associated variants
    • Lawrence R, Evans DM, Morris AP, Ke X, Hunt S, et al. (2005) Genetically indistinguishable SNPs and their influence on inferring the location of disease-associated variants. Genome Res 15: 1503-1510.
    • (2005) Genome Res , vol.15 , pp. 1503-1510
    • Lawrence, R.1    Evans, D.M.2    Morris, A.P.3    Ke, X.4    Hunt, S.5
  • 24
    • 23944444728 scopus 로고    scopus 로고
    • Scale-specific inference using wavelets
    • Keitt TH, Urban DL (2005) Scale-specific inference using wavelets. Ecology 86: 2497-2504.
    • (2005) Ecology , vol.86 , pp. 2497-2504
    • Keitt, T.H.1    Urban, D.L.2
  • 25
    • 0035924324 scopus 로고    scopus 로고
    • The DNA sequence and comparative analysis of human chromosome 20
    • Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, et al. (2001) The DNA sequence and comparative analysis of human chromosome 20. Nature 414: 865-871.
    • (2001) Nature , vol.414 , pp. 865-871
    • Deloukas, P.1    Matthews, L.H.2    Ashurst, J.3    Burton, J.4    Gilbert, J.G.5
  • 26
    • 20144387806 scopus 로고    scopus 로고
    • Comparison of fine-scale recombination rates in humans and chimpanzees
    • Winckler W, Myers SR, Richter DJ, Onofrio RC, McDonald GJ, et al. (2005) Comparison of fine-scale recombination rates in humans and chimpanzees. Science 308: 107-111.
    • (2005) Science , vol.308 , pp. 107-111
    • Winckler, W.1    Myers, S.R.2    Richter, D.J.3    Onofrio, R.C.4    McDonald, G.J.5
  • 27
    • 16844377748 scopus 로고    scopus 로고
    • Fine-scale recombination patterns differ between chimpanzees and humans
    • Ptak SE, Hinds DA, Koehler K, Nickel B, Patil N, et al. (2005) Fine-scale recombination patterns differ between chimpanzees and humans. Nat Genet 37: 429-434.
    • (2005) Nat Genet , vol.37 , pp. 429-434
    • Ptak, S.E.1    Hinds, D.A.2    Koehler, K.3    Nickel, B.4    Patil, N.5
  • 28
    • 0035865322 scopus 로고    scopus 로고
    • A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms
    • Sachidanandam R, Weissman D, Schmidt SC, Kakol JM, Stein LD, et al. (2001) A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 409: 928-933.
    • (2001) Nature , vol.409 , pp. 928-933
    • Sachidanandam, R.1    Weissman, D.2    Schmidt, S.C.3    Kakol, J.M.4    Stein, L.D.5
  • 29
    • 16344392281 scopus 로고    scopus 로고
    • Absence of the TAP2 human recombination hotspot in chimpanzees
    • DOI: 10.1371/journal.pbio.0020155
    • Ptak SE, Roeder AD, Stephens M, Gilad Y, Paabo S, et al. (2004) Absence of the TAP2 human recombination hotspot in chimpanzees. PLoS Biol 2: e155. DOI: 10.1371/journal.pbio.0020155
    • (2004) PLoS Biol , vol.2
    • Ptak, S.E.1    Roeder, A.D.2    Stephens, M.3    Gilad, Y.4    Paabo, S.5
  • 30
    • 0346101497 scopus 로고    scopus 로고
    • Comparative linkage-disequilibrium analysis of the beta-globin hotspot in primates
    • Wall JD, Frisse LA, Hudson RR, Di Rienzo A (2003) Comparative linkage-disequilibrium analysis of the beta-globin hotspot in primates. Am J Hum Genet 73: 1330-1340.
    • (2003) Am J Hum Genet , vol.73 , pp. 1330-1340
    • Wall, J.D.1    Frisse, L.A.2    Hudson, R.R.3    Di Rienzo, A.4
  • 31
    • 0023651289 scopus 로고
    • A specific mismatch repair event protects mammalian cells from loss of 5-methylcytosine
    • Brown TC, Jiricny J (1987) A specific mismatch repair event protects mammalian cells from loss of 5-methylcytosine. Cell 50: 945-950.
    • (1987) Cell , vol.50 , pp. 945-950
    • Brown, T.C.1    Jiricny, J.2
  • 32
    • 0023803187 scopus 로고
    • Different base/base mispairs are corrected with different efficiencies and specificities in monkey kidney cells
    • Brown TC, Jiricny J (1988) Different base/base mispairs are corrected with different efficiencies and specificities in monkey kidney cells. Cell 54: 705-711.
    • (1988) Cell , vol.54 , pp. 705-711
    • Brown, T.C.1    Jiricny, J.2
  • 33
    • 0029024834 scopus 로고
    • DNA synthesis errors associated with double-strand-break repair
    • Strathern JN, Shafer BK, McGill CB (1995) DNA synthesis errors associated with double-strand-break repair. Genetics 140: 965-972.
    • (1995) Genetics , vol.140 , pp. 965-972
    • Strathern, J.N.1    Shafer, B.K.2    McGill, C.B.3
  • 34
    • 0037543988 scopus 로고    scopus 로고
    • Non-homologous end joining as an important mutagenic process in cell cycle-arrested cells
    • Heidenreich E, Novotny R, Kneidinger B, Holzmann V, Wintersberger U (2003) Non-homologous end joining as an important mutagenic process in cell cycle-arrested cells. EMBO J 22: 2274-2283.
    • (2003) EMBO J , vol.22 , pp. 2274-2283
    • Heidenreich, E.1    Novotny, R.2    Kneidinger, B.3    Holzmann, V.4    Wintersberger, U.5
  • 35
    • 14544276073 scopus 로고    scopus 로고
    • How strong is the mutagenicity of recombination in mammals?
    • Huang SW, Friedman R, Yu N, Yu A, Li WH (2005) How strong is the mutagenicity of recombination in mammals? Mol Biol Evol 22: 426-431.
    • (2005) Mol Biol Evol , vol.22 , pp. 426-431
    • Huang, S.W.1    Friedman, R.2    Yu, N.3    Yu, A.4    Li, W.H.5
  • 36
    • 0036649022 scopus 로고    scopus 로고
    • Reciprocal crossover asymmetry and meiotic drive in a human recombination hot spot
    • Jeffreys AJ, Neumann R (2002) Reciprocal crossover asymmetry and meiotic drive in a human recombination hot spot. Nat Genet 31: 267-271.
    • (2002) Nat Genet , vol.31 , pp. 267-271
    • Jeffreys, A.J.1    Neumann, R.2
  • 37
    • 2442651458 scopus 로고    scopus 로고
    • Recombination drives the evolution of GC-content in the human genome
    • Meunier J, Duret L (2004) Recombination drives the evolution of GC-content in the human genome. Mol Biol Evol 21: 984-990.
    • (2004) Mol Biol Evol , vol.21 , pp. 984-990
    • Meunier, J.1    Duret, L.2
  • 38
    • 0034766004 scopus 로고    scopus 로고
    • GC-content evolution in mammalian genomes: The biased gene conversion hypothesis
    • Galtier N, Piganeau G, Mouchiroud D, Duret L (2001) GC-content evolution in mammalian genomes: The biased gene conversion hypothesis. Genetics 159: 907-911.
    • (2001) Genetics , vol.159 , pp. 907-911
    • Galtier, N.1    Piganeau, G.2    Mouchiroud, D.3    Duret, L.4
  • 39
    • 0037372234 scopus 로고    scopus 로고
    • Recombination explains isochores in mammalian genomes
    • Montoya-Burgos JI, Boursot P, Galtier N (2003) Recombination explains isochores in mammalian genomes. Trends Genet 19: 128-130.
    • (2003) Trends Genet , vol.19 , pp. 128-130
    • Montoya-Burgos, J.I.1    Boursot, P.2    Galtier, N.3
  • 40
    • 19544384915 scopus 로고    scopus 로고
    • Male-driven biased gene conversion governs the evolution of base composition in human Alu repeats
    • Webster MT, Smith NG, Hultin-Rosenberg L, Arndt PF, Ellegren H (2005) Male-driven biased gene conversion governs the evolution of base composition in human Alu repeats. Mol Biol Evol 22: 1468-1474.
    • (2005) Mol Biol Evol , vol.22 , pp. 1468-1474
    • Webster, M.T.1    Smith, N.G.2    Hultin-Rosenberg, L.3    Arndt, P.F.4    Ellegren, H.5
  • 41
    • 12244264796 scopus 로고    scopus 로고
    • The evolution of isochores: Evidence from SNP frequency distributions
    • Lercher MJ, Smith NG, Eyre-Walker A, Hurst LD (2002) The evolution of isochores: Evidence from SNP frequency distributions. Genetics 162: 1805-1810.
    • (2002) Genetics , vol.162 , pp. 1805-1810
    • Lercher, M.J.1    Smith, N.G.2    Eyre-Walker, A.3    Hurst, L.D.4
  • 42
    • 27244445943 scopus 로고    scopus 로고
    • A novel method with improved power to detect recombination hotspots from polymorphism data reveals multiple hotspots in human genes
    • Fearnhead P, Smith NG (2005) A novel method with improved power to detect recombination hotspots from polymorphism data reveals multiple hotspots in human genes. Am J Hum Genet 77: 781-794.
    • (2005) Am J Hum Genet , vol.77 , pp. 781-794
    • Fearnhead, P.1    Smith, N.G.2
  • 43
    • 0032749124 scopus 로고    scopus 로고
    • A population genetic model for the evolution of synonymous codon usage: Patterns and predictions
    • McVean GAT, Charlesworth B (1999) A population genetic model for the evolution of synonymous codon usage: Patterns and predictions. Genet Res 74: 145-158.
    • (1999) Genet Res , vol.74 , pp. 145-158
    • McVean, G.A.T.1    Charlesworth, B.2
  • 44
    • 0021077332 scopus 로고
    • Evolution of a finite population under gene conversion
    • Nagylaki T (1983) Evolution of a finite population under gene conversion. Proc Natl Acad Sci U S A 80: 6278-6281.
    • (1983) Proc Natl Acad Sci U S A , vol.80 , pp. 6278-6281
    • Nagylaki, T.1
  • 45
    • 0037202375 scopus 로고    scopus 로고
    • Can mutation or fixation biases explain the allele frequency distribution of human single nucleotide polymorphisms (SNPs)?
    • Lercher MJ, Hurst LD (2002) Can mutation or fixation biases explain the allele frequency distribution of human single nucleotide polymorphisms (SNPs)? Gene 300: 53-58.
    • (2002) Gene , vol.300 , pp. 53-58
    • Lercher, M.J.1    Hurst, L.D.2
  • 46
    • 0034835229 scopus 로고    scopus 로고
    • Gene conversion and different population histories may explain the contrast between polymorphism and linkage disequilibrium levels
    • Frisse L, Hudson RR, Bartoszewicz A, Wall JD, Donfack J, et al. (2001) Gene conversion and different population histories may explain the contrast between polymorphism and linkage disequilibrium levels. Am J Hum Genet 69: 831-843.
    • (2001) Am J Hum Genet , vol.69 , pp. 831-843
    • Frisse, L.1    Hudson, R.R.2    Bartoszewicz, A.3    Wall, J.D.4    Donfack, J.5
  • 47
    • 32944481700 scopus 로고    scopus 로고
    • Perspectives on human genetic variation from the HapMap Project
    • DOI: 10.1371/journal.pgen.0010054
    • McVean G, Spencer CC, Chaix R (2005) Perspectives on human genetic variation from the HapMap Project. PLoS Genet 1: e54. DOI: 10.1371/journal.pgen. 0010054
    • (2005) PLoS Genet , vol.1
    • McVean, G.1    Spencer, C.C.2    Chaix, R.3
  • 48
    • 0034633494 scopus 로고    scopus 로고
    • Inaugural article: Global mapping of meiotic recombination hotspots and coldspots in the yeast Saccharomyces cerevisiae
    • Gerton JL, DeRisi J, Shroff R, Lichten M, Brown PO, et al. (2000) Inaugural article: Global mapping of meiotic recombination hotspots and coldspots in the yeast Saccharomyces cerevisiae. Proc Natl Acad Sci U S A 97: 11383-11390.
    • (2000) Proc Natl Acad Sci U S A , vol.97 , pp. 11383-11390
    • Gerton, J.L.1    DeRisi, J.2    Shroff, R.3    Lichten, M.4    Brown, P.O.5
  • 49
    • 24344439286 scopus 로고    scopus 로고
    • Fitting background-selection predictions to levels of nucleotide variation and divergence along the human autosomes
    • Reed FA, Akey JM, Aquadro CF (2005) Fitting background-selection predictions to levels of nucleotide variation and divergence along the human autosomes. Genome Res 15: 1211-1221.
    • (2005) Genome Res , vol.15 , pp. 1211-1221
    • Reed, F.A.1    Akey, J.M.2    Aquadro, C.F.3
  • 51
    • 0842310835 scopus 로고    scopus 로고
    • Intense and highly localized gene conversion activity in human meiotic crossover hot spots
    • Jeffreys AJ, May CA (2004) Intense and highly localized gene conversion activity in human meiotic crossover hot spots. Nat Genet 36: 151-156.
    • (2004) Nat Genet , vol.36 , pp. 151-156
    • Jeffreys, A.J.1    May, C.A.2
  • 52
    • 0033977175 scopus 로고    scopus 로고
    • A new method for characterizing replacement rate variation in molecular sequences. Application of the Fourier and wavelet models to Drosophila and mammalian proteins
    • Morozov P, Sitnikova T, Churchill G, Ayala FJ, Rzhetsky A (2000) A new method for characterizing replacement rate variation in molecular sequences. Application of the Fourier and wavelet models to Drosophila and mammalian proteins. Genetics 154: 381-395.
    • (2000) Genetics , vol.154 , pp. 381-395
    • Morozov, P.1    Sitnikova, T.2    Churchill, G.3    Ayala, F.J.4    Rzhetsky, A.5
  • 53
    • 0033637404 scopus 로고    scopus 로고
    • Finding pathogenicity islands and gene transfer events in genome data
    • Lio P, Vannucci M (2000) Finding pathogenicity islands and gene transfer events in genome data. Bioinformatics 16: 932-940.
    • (2000) Bioinformatics , vol.16 , pp. 932-940
    • Lio, P.1    Vannucci, M.2
  • 54
    • 0026460082 scopus 로고
    • Population genetics of polymorphism and divergence
    • Sawyer SA, Hartl DL (1992) Population genetics of polymorphism and divergence. Genetics 132: 1161-1176.
    • (1992) Genetics , vol.132 , pp. 1161-1176
    • Sawyer, S.A.1    Hartl, D.L.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.