메뉴 건너뛰기




Volumn 4, Issue 11, 2008, Pages

Hypermutable non-synonymous sites are under stronger negative selection

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEOTIDE;

EID: 57149120515     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1000281     Document Type: Article
Times cited : (30)

References (39)
  • 1
    • 7244245762 scopus 로고    scopus 로고
    • Finishing the euchromatic sequence of the human genome
    • International Human Genome Sequencing Consortium
    • International Human Genome Sequencing Consortium (2004) Finishing the euchromatic sequence of the human genome. Nature 431: 931-945.
    • (2004) Nature , vol.431 , pp. 931-945
  • 3
    • 0038104863 scopus 로고    scopus 로고
    • Selection on human genes as revealed by comparisons to chimpanzee cDNA
    • Hellmann I, Zollner S, Enard W, Ebersberger I, Nickel B, et al. (2003) Selection on human genes as revealed by comparisons to chimpanzee cDNA. Genome Res 13: 831-837.
    • (2003) Genome Res , vol.13 , pp. 831-837
    • Hellmann, I.1    Zollner, S.2    Enard, W.3    Ebersberger, I.4    Nickel, B.5
  • 4
    • 26444606420 scopus 로고    scopus 로고
    • Small fitness effect of mutations in highly conserved non-coding regions
    • Kryukov GV, Schmidt S, Sunyaev S (2005) Small fitness effect of mutations in highly conserved non-coding regions. Hum Mol Genet 14: 2221-2229.
    • (2005) Hum Mol Genet , vol.14 , pp. 2221-2229
    • Kryukov, G.V.1    Schmidt, S.2    Sunyaev, S.3
  • 5
    • 31744448843 scopus 로고    scopus 로고
    • Conserved noncoding sequences are selectively constrained and not mutation cold spots
    • Drake JA, Bird C, Nemesh J, Thomas DJ, Newton-Cheh C, et al. (2006) Conserved noncoding sequences are selectively constrained and not mutation cold spots. Nat Genet 38: 223-227.
    • (2006) Nat Genet , vol.38 , pp. 223-227
    • Drake, J.A.1    Bird, C.2    Nemesh, J.3    Thomas, D.J.4    Newton-Cheh, C.5
  • 7
    • 34147151710 scopus 로고    scopus 로고
    • The strength of selection on ultraconserved elements in the human genome
    • Chen CT, Wang JC, Cohen BA (2007) The strength of selection on ultraconserved elements in the human genome. Am J Hum Genet 80: 692-704.
    • (2007) Am J Hum Genet , vol.80 , pp. 692-704
    • Chen, C.T.1    Wang, J.C.2    Cohen, B.A.3
  • 9
    • 27744541698 scopus 로고    scopus 로고
    • Distribution of the strength of selection against amino acid replacements in human proteins
    • Yampolsky LY, Kondrashov FA, Kondrashov AS (2005) Distribution of the strength of selection against amino acid replacements in human proteins. Hum Mol Genet 14: 3191-3201.
    • (2005) Hum Mol Genet , vol.14 , pp. 3191-3201
    • Yampolsky, L.Y.1    Kondrashov, F.A.2    Kondrashov, A.S.3
  • 10
    • 33745347447 scopus 로고    scopus 로고
    • The distribution of fitness effects of new deleterious amino acid mutations in humans
    • Eyre-Walker A, Woolfit M, Phelps T (2006) The distribution of fitness effects of new deleterious amino acid mutations in humans. Genetics 173: 891-900.
    • (2006) Genetics , vol.173 , pp. 891-900
    • Eyre-Walker, A.1    Woolfit, M.2    Phelps, T.3
  • 11
    • 34147116715 scopus 로고    scopus 로고
    • Most rare missense alleles are deleterious in humans: Implications for complex disease and association studies
    • Kryukov GV, Pennacchio LA, Sunyaev SR (2007) Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am J Hum Genet 80: 727-739.
    • (2007) Am J Hum Genet , vol.80 , pp. 727-739
    • Kryukov, G.V.1    Pennacchio, L.A.2    Sunyaev, S.R.3
  • 13
    • 0036844415 scopus 로고    scopus 로고
    • Patterns in spontaneous mutation revealed by human-baboon sequence comparison
    • Silva JC, Kondrashov AS (2002) Patterns in spontaneous mutation revealed by human-baboon sequence comparison. Trends Genet 18: 544-547.
    • (2002) Trends Genet , vol.18 , pp. 544-547
    • Silva, J.C.1    Kondrashov, A.S.2
  • 14
    • 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
  • 15
    • 23744486255 scopus 로고    scopus 로고
    • The scale of mutational variation in the murid genome
    • Gaffney DJ, Keightley PD (2005) The scale of mutational variation in the murid genome. Genome Res 15: 1086-1094.
    • (2005) Genome Res , vol.15 , pp. 1086-1094
    • Gaffney, D.J.1    Keightley, P.D.2
  • 16
    • 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
  • 17
    • 0036094907 scopus 로고    scopus 로고
    • Genomewide comparison of DNA sequences between humans and chimpanzees
    • Ebersberger I, Metzler D, Schwarz C, Paabo S (2002) Genomewide comparison of DNA sequences between humans and chimpanzees. Am J Hum Genet 70: 1490-1497.
    • (2002) Am J Hum Genet , vol.70 , pp. 1490-1497
    • Ebersberger, I.1    Metzler, D.2    Schwarz, C.3    Paabo, S.4
  • 18
    • 0037224621 scopus 로고    scopus 로고
    • Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases
    • Kondrashov AS (2003) Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases. Hum Mutat 21: 12-27.
    • (2003) Hum Mutat , vol.21 , pp. 12-27
    • Kondrashov, A.S.1
  • 19
    • 4644300141 scopus 로고    scopus 로고
    • Bayesian Markov chain Monte Carlo sequence analysis reveals varying neutral substitution patterns in mammalian evolution
    • Hwang DG, Green P (2004) Bayesian Markov chain Monte Carlo sequence analysis reveals varying neutral substitution patterns in mammalian evolution. Proc Natl Acad Sci U S A 101: 13994-134001.
    • (2004) Proc Natl Acad Sci U S A , vol.101 , pp. 13994-134001
    • Hwang, D.G.1    Green, P.2
  • 20
    • 0042847380 scopus 로고    scopus 로고
    • Theoretical analysis of mutation hotspots and their DNA sequence context specificity
    • Rogozin IB, Pavlov YI (2003) Theoretical analysis of mutation hotspots and their DNA sequence context specificity. Mutat Res 544: 65-85.
    • (2003) Mutat Res , vol.544 , pp. 65-85
    • Rogozin, I.B.1    Pavlov, Y.I.2
  • 21
    • 0038781903 scopus 로고    scopus 로고
    • Neutral substitutions occur at a faster rate in exons than in noncoding DNA in primate genomes
    • Subramanian S, Kumar S (2003) Neutral substitutions occur at a faster rate in exons than in noncoding DNA in primate genomes. Genome Res 13: 838-844.
    • (2003) Genome Res , vol.13 , pp. 838-844
    • Subramanian, S.1    Kumar, S.2
  • 23
    • 0029074889 scopus 로고
    • Modifiers of reproduction under the mutation-selection balance: General approach and the evolution of mutability
    • Kondrashov AS (1995) Modifiers of reproduction under the mutation-selection balance: general approach and the evolution of mutability. Genetical Res 66: 53-69.
    • (1995) Genetical Res , vol.66 , pp. 53-69
    • Kondrashov, A.S.1
  • 24
    • 33750959091 scopus 로고    scopus 로고
    • Higher intensity of purifying selection on >90% of the human genes revealed by the intrinsic replacement mutation rates
    • Subramanian S, Kumar S (2006) Higher intensity of purifying selection on >90% of the human genes revealed by the intrinsic replacement mutation rates. Mol Biol Evol 23: 2283-2287.
    • (2006) Mol Biol Evol , vol.23 , pp. 2283-2287
    • Subramanian, S.1    Kumar, S.2
  • 25
    • 33644636376 scopus 로고    scopus 로고
    • Selection in favor of nucleotides G and C diversifies evolution rates and levels of polymorphism at mammalian synonymous sites
    • Kondrashov FA, Ogurtsov AY, Kondrashov AS (2006) Selection in favor of nucleotides G and C diversifies evolution rates and levels of polymorphism at mammalian synonymous sites. J Theor Biol 240: 616-626.
    • (2006) J Theor Biol , vol.240 , pp. 616-626
    • Kondrashov, F.A.1    Ogurtsov, A.Y.2    Kondrashov, A.S.3
  • 26
    • 24344500211 scopus 로고    scopus 로고
    • Initial sequence of the chimpanzee genome and comparison with the human genome
    • Chimpanzee Sequencing and Analysis Consortium
    • Chimpanzee Sequencing and Analysis Consortium (2005) Initial sequence of the chimpanzee genome and comparison with the human genome. Nature 437: 69-87.
    • (2005) Nature , vol.437 , pp. 69-87
  • 28
    • 31144465926 scopus 로고    scopus 로고
    • Hearing silence: Non-neutral evolution at synonymous sites in mammals
    • Chamary JV, Parmley JL, Hurst LD (2006) Hearing silence: non-neutral evolution at synonymous sites in mammals. Nat Rev Genet 7: 98-108.
    • (2006) Nat Rev Genet , vol.7 , pp. 98-108
    • Chamary, J.V.1    Parmley, J.L.2    Hurst, L.D.3
  • 29
    • 44949129000 scopus 로고    scopus 로고
    • Boyko AR, Williamson SH, Indap AR, Degenhardt JD, Hernandez RD, et al. (2008) Assessing the evolutionary impact of amino acid mutations in the human genome. PLoS Genet 4: e1000083.
    • Boyko AR, Williamson SH, Indap AR, Degenhardt JD, Hernandez RD, et al. (2008) Assessing the evolutionary impact of amino acid mutations in the human genome. PLoS Genet 4: e1000083.
  • 31
    • 33845894704 scopus 로고    scopus 로고
    • Evolutionary anatomies of positions and types of disease-associated and neutral amino acid mutations in the human genome
    • Subramanian S, Kumar S (2006) Evolutionary anatomies of positions and types of disease-associated and neutral amino acid mutations in the human genome. BMC Genomics 7: 306.
    • (2006) BMC Genomics , vol.7 , pp. 306
    • Subramanian, S.1    Kumar, S.2
  • 32
    • 33750353461 scopus 로고    scopus 로고
    • Predicting the effects of amino Acid substitutions on protein function
    • Ng PC, Henikoff S (2006) Predicting the effects of amino Acid substitutions on protein function. Annu Rev Genomics Hum Genet 7: 61-80.
    • (2006) Annu Rev Genomics Hum Genet , vol.7 , pp. 61-80
    • Ng, P.C.1    Henikoff, S.2
  • 35
    • 13844313862 scopus 로고    scopus 로고
    • Whole-genome patterns of common DNA variation in three human populations
    • Hinds DA, Stuve LL, Nilsen GB, Halperin E, Eskin E, et al. (2005) Whole-genome patterns of common DNA variation in three human populations. Science 307: 1072-1079.
    • (2005) Science , vol.307 , pp. 1072-1079
    • Hinds, D.A.1    Stuve, L.L.2    Nilsen, G.B.3    Halperin, E.4    Eskin, E.5
  • 36
    • 35748932852 scopus 로고    scopus 로고
    • R Development Core Team , Vienna, Austria: R Foundation for Statistical Computing
    • R Development Core Team (2007) R: A Language and Environment for Statistical Computing. Vienna, Austria: R Foundation for Statistical Computing.
    • (2007) R: A Language and Environment for Statistical Computing
  • 37
    • 0006661754 scopus 로고
    • Meta-analysis: Quantitative methods for research synthesis
    • Newbury Park: Sage Publications. pp
    • Wolf FM (1986) Meta-analysis: quantitative methods for research synthesis. Quantitative Applications in the Social Sciences. Newbury Park: Sage Publications. pp 18-23.
    • (1986) Quantitative Applications in the Social Sciences , pp. 18-23
    • Wolf, F.M.1
  • 39
    • 33744880809 scopus 로고
    • Categorical data analysis
    • Agresti A (1990) Categorical data analysis. New York: Wiley. pp 230-235.
    • (1990) New York: Wiley , pp. 230-235
    • Agresti, A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.