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Volumn 95, Issue 4, 2014, Pages 408-420

Biased gene conversion skews allele frequencies in human populations, increasing the disease burden of recessive alleles

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; DNA BASE COMPOSITION; GENE CONVERSION; GENE FREQUENCY; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC DISTANCE; GENETIC RECOMBINATION; GENETIC RISK; GENOME ANALYSIS; HOMOZYGOTE; HUMAN; HUMAN GENOME; NATURAL SELECTION; PLESIOMORPHY; POPULATION GENETICS; PRIORITY JOURNAL; RECESSIVE INHERITANCE; BIOLOGICAL MODEL; GENETIC SELECTION; GENETICS; MOLECULAR EVOLUTION; RECESSIVE GENE; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL BIAS; THEORETICAL MODEL;

EID: 84921776131     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.09.008     Document Type: Article
Times cited : (48)

References (62)
  • 1
    • 70350236484 scopus 로고    scopus 로고
    • Biased gene conversion and the evolution of mammalian genomic landscapes
    • Duret, L., and Galtier, N. (2009). Biased gene conversion and the evolution of mammalian genomic landscapes. Annu. Rev. Genomics Hum. Genet. 10, 285-311.
    • (2009) Annu. Rev. Genomics Hum. Genet. , vol.10 , pp. 285-311
    • Duret, L.1    Galtier, N.2
  • 2
    • 84874221874 scopus 로고    scopus 로고
    • Meiotic geneconversion rate and tract length variation in the human genome
    • Published online February 27, 2013
    • Padhukasahasram, B., and Rannala, B. (2013). Meiotic geneconversion rate and tract length variation in the human genome. Eur. J. Hum. Genet. Published online February 27, 2013. http://dx.doi.org/10.1038/ejhg.2013.30.
    • (2013) Eur. J. Hum. Genet.
    • Padhukasahasram, B.1    Rannala, B.2
  • 5
    • 79958855323 scopus 로고    scopus 로고
    • Effects of natural selection and gene 418 the American Journal of Human Genetics 95, 408-420, October 2, 2014 conversion on the evolution of human glycophorins coding for MNS blood polymorphisms in malaria-endemic African populations
    • Ko, W.Y., Kaercher, K.A., Giombini, E., Marcatili, P., Froment, A., Ibrahim, M., Lema, G., Nyambo, T.B., Omar, S.A., Wambebe, C., et al. (2011). Effects of natural selection and gene 418 The American Journal of Human Genetics 95, 408-420, October 2, 2014 conversion on the evolution of human glycophorins coding for MNS blood polymorphisms in malaria-endemic African populations. Am. J. Hum. Genet. 88, 741-754.
    • (2011) Am. J. Hum. Genet. , vol.88 , pp. 741-754
    • Ko, W.Y.1    Kaercher, K.A.2    Giombini, E.3    Marcatili, P.4    Froment, A.5    Ibrahim, M.6    Lema, G.7    Nyambo, T.B.8    Omar, S.A.9    Wambebe, C.10
  • 6
    • 0024891718 scopus 로고
    • Repair of base-base mismatches in simian and human cells
    • Brown, T.C., and Jiricny, J. (1989). Repair of base-base mismatches in simian and human cells. Genome 31, 578-583.
    • (1989) Genome , vol.31 , pp. 578-583
    • Brown, T.C.1    Jiricny, J.2
  • 7
    • 0023651289 scopus 로고
    • A specific mismatch repair event protects mammalian cells from loss of 5-methylcytosine
    • Brown, T.C., and 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
  • 8
    • 44949198268 scopus 로고    scopus 로고
    • The impact of recombination on nucleotide substitutions in the human genome
    • Duret, L., and Arndt, P.F. (2008). The impact of recombination on nucleotide substitutions in the human genome. PLoS Genet. 4, e1000071.
    • (2008) PLoS Genet. , vol.4 , pp. e1000071
    • Duret, L.1    Arndt, P.F.2
  • 10
    • 1242293743 scopus 로고    scopus 로고
    • Fixation biases affecting human SNPs
    • Webster, M.T., and Smith, N.G. (2004). Fixation biases affecting human SNPs. Trends Genet. 20, 122-126.
    • (2004) Trends Genet. , vol.20 , pp. 122-126
    • Webster, M.T.1    Smith, N.G.2
  • 11
    • 0034835229 scopus 로고    scopus 로고
    • Gene conversion and different population histories may explain the contrast between polymorphism and linkage disequilibrium levels
    • Frisse, L., Hudson, R.R., Bartoszewicz, A., Wall, J.D., Donfack, J., and Di Rienzo, A. (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    Di Rienzo, A.6
  • 12
    • 33751026170 scopus 로고    scopus 로고
    • Insights into recombination from population genetic variation
    • Hellenthal, G., and Stephens, M. (2006). Insights into recombination from population genetic variation. Curr. Opin. Genet. Dev. 16, 565-572.
    • (2006) Curr. Opin. Genet. Dev. , vol.16 , pp. 565-572
    • Hellenthal, G.1    Stephens, M.2
  • 13
    • 0030791317 scopus 로고    scopus 로고
    • The hotspot conversion paradox and the evolution of meiotic recombination
    • Boulton, A., Myers, R.S., and Redfield, R.J. (1997). The hotspot conversion paradox and the evolution of meiotic recombination. Proc. Natl. Acad. Sci. USA 94, 8058-8063.
    • (1997) Proc. Natl. Acad. Sci. USA , vol.94 , pp. 8058-8063
    • Boulton, A.1    Myers, R.S.2    Redfield, R.J.3
  • 14
    • 34047200066 scopus 로고    scopus 로고
    • Live hot, die young: Transmission distortion in recombination hotspots
    • Coop, G., and Myers, S.R. (2007). Live hot, die young: transmission distortion in recombination hotspots. PLoS Genet. 3, e35.
    • (2007) PLoS Genet. , vol.3 , pp. e35
    • Coop, G.1    Myers, S.R.2
  • 15
    • 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. USA 80, 6278-6281.
    • (1983) Proc. Natl. Acad. Sci. USA , vol.80 , pp. 6278-6281
    • Nagylaki, T.1
  • 16
    • 84856383378 scopus 로고    scopus 로고
    • Ongoing GC-biased evolution is widespread in the human genome and enriched near recombination hot spots
    • Katzman, S., Capra, J.A., Haussler, D., and Pollard, K.S. (2011). Ongoing GC-biased evolution is widespread in the human genome and enriched near recombination hot spots. Genome Biol. Evol. 3, 614-626.
    • (2011) Genome Biol. Evol. , vol.3 , pp. 614-626
    • Katzman, S.1    Capra, J.A.2    Haussler, D.3    Pollard, K.S.4
  • 18
    • 34948890647 scopus 로고    scopus 로고
    • Biased clustered substitutions in the human genome: The footprints of male-driven biased gene conversion
    • Dreszer, T.R.,Wall, G.D., Haussler, D., and Pollard, K.S. (2007). Biased clustered substitutions in the human genome: the footprints of male-driven biased gene conversion. Genome Res. 17, 1420-1430.
    • (2007) Genome Res. , vol.17 , pp. 1420-1430
    • Dreszer, T.R.1    Wall, G.D.2    Haussler, D.3    Pollard, K.S.4
  • 20
    • 34248641119 scopus 로고    scopus 로고
    • Adaptation or biased gene conversion? Extending the null hypothesis of molecular evolution
    • Galtier, N., and Duret, L. (2007). Adaptation or biased gene conversion? Extending the null hypothesis of molecular evolution. Trends Genet. 23, 273-277.
    • (2007) Trends Genet. , vol.23 , pp. 273-277
    • Galtier, N.1    Duret, L.2
  • 21
    • 58149328496 scopus 로고    scopus 로고
    • GCbiased gene conversion promotes the fixation of deleterious amino acid changes in primates
    • Galtier, N., Duret, L., Glémin, S., and Ranwez, V. (2009). GCbiased gene conversion promotes the fixation of deleterious amino acid changes in primates. Trends Genet. 25, 1-5.
    • (2009) Trends Genet. , vol.25 , pp. 1-5
    • Galtier, N.1    Duret, L.2    Glémin, S.3    Ranwez, V.4
  • 23
    • 84864576715 scopus 로고    scopus 로고
    • Evolutionary history and adaptation from high-coverage whole-genome sequences of diverse African hunter-gatherers
    • Lachance, J., Vernot, B., Elbers, C.C., Ferwerda, B., Froment, A., Bodo, J.M., Lema, G., Fu, W., Nyambo, T.B., Rebbeck, T.R., et al. (2012). Evolutionary history and adaptation from high-coverage whole-genome sequences of diverse African hunter-gatherers. Cell 150, 457-469.
    • (2012) Cell , vol.150 , pp. 457-469
    • Lachance, J.1    Vernot, B.2    Elbers, C.C.3    Ferwerda, B.4    Froment, A.5    Bodo, J.M.6    Lema, G.7    Fu, W.8    Nyambo, T.B.9    Rebbeck, T.R.10
  • 25
    • 55149099590 scopus 로고    scopus 로고
    • Effect of the assignment of ancestral CpG state on the estimation of nucleotide substitution rates in mammals
    • Gaffney, D.J., and Keightley, P.D. (2008). Effect of the assignment of ancestral CpG state on the estimation of nucleotide substitution rates in mammals. BMC Evol. Biol. 8, 265.
    • (2008) BMC Evol. Biol. , vol.8 , pp. 265
    • Gaffney, D.J.1    Keightley, P.D.2
  • 26
    • 0021566877 scopus 로고
    • Estimating F-statistics for the analysis of population structure
    • Weir, B.S., and Cockerham, C.C. (1984). Estimating F-statistics for the analysis of population structure. Evolution 38, 1358-1370.
    • (1984) Evolution , vol.38 , pp. 1358-1370
    • Weir, B.S.1    Cockerham, C.C.2
  • 30
    • 0015927177 scopus 로고
    • Generation time and genomic evolution in primates
    • Sarich, V.M., and Wilson, A.C. (1973). Generation time and genomic evolution in primates. Science 179, 1144-1147.
    • (1973) Science , vol.179 , pp. 1144-1147
    • Sarich, V.M.1    Wilson, A.C.2
  • 32
    • 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
  • 33
    • 0033911640 scopus 로고    scopus 로고
    • Hitchhiking under positive Darwinian selection
    • Fay, J.C., and Wu, C.I. (2000). Hitchhiking under positive Darwinian selection. Genetics 155, 1405-1413.
    • (2000) Genetics , vol.155 , pp. 1405-1413
    • Fay, J.C.1    Wu, C.I.2
  • 34
    • 33751342650 scopus 로고    scopus 로고
    • Statistical tests for detecting positive selection by utilizing high-frequency variants
    • Zeng, K., Fu, Y.X., Shi, S., and Wu, C.I. (2006). Statistical tests for detecting positive selection by utilizing high-frequency variants. Genetics 174, 1431-1439.
    • (2006) Genetics , vol.174 , pp. 1431-1439
    • Zeng, K.1    Fu, Y.X.2    Shi, S.3    Wu, C.I.4
  • 36
    • 0000800333 scopus 로고
    • On the probability of fixation of mutant genes in a population
    • Kimura, M. (1962). On the probability of fixation of mutant genes in a population. Genetics 47, 713-719.
    • (1962) Genetics , vol.47 , pp. 713-719
    • Kimura, M.1
  • 37
    • 84881616630 scopus 로고    scopus 로고
    • SNP ascertainment bias in population genetic analyses: Why it is important, and how to correct it
    • Lachance, J., and Tishkoff, S.A. (2013). SNP ascertainment bias in population genetic analyses: why it is important, and how to correct it. Bioessays 35, 780-786.
    • (2013) Bioessays , vol.35 , pp. 780-786
    • Lachance, J.1    Tishkoff, S.A.2
  • 38
    • 11244313872 scopus 로고    scopus 로고
    • Reconstituting the frequency spectrum of ascertained single-nucleotide polymorphism data
    • Nielsen, R., Hubisz, M.J., and Clark, A.G. (2004). Reconstituting the frequency spectrum of ascertained single-nucleotide polymorphism data. Genetics 168, 2373-2382.
    • (2004) Genetics , vol.168 , pp. 2373-2382
    • Nielsen, R.1    Hubisz, M.J.2    Clark, A.G.3
  • 39
    • 76549106642 scopus 로고    scopus 로고
    • Evolution in health and medicine Sackler colloquium: Consanguinity, human evolution, and complex diseases
    • Bittles, A.H., and Black, M.L. (2010). Evolution in health and medicine Sackler colloquium: Consanguinity, human evolution, and complex diseases. Proc. Natl. Acad. Sci. USA 107 (Suppl 1), 1779-1786.
    • (2010) Proc. Natl. Acad. Sci. USA , vol.107 , pp. 1779-1786
    • Bittles, A.H.1    Black, M.L.2
  • 40
    • 78349237426 scopus 로고    scopus 로고
    • Surprising fitness consequences of GCbiased gene conversion: I. Mutation load and inbreeding depression
    • Glémin, S. (2010). Surprising fitness consequences of GCbiased gene conversion: I. Mutation load and inbreeding depression. Genetics 185, 939-959.
    • (2010) Genetics , vol.185 , pp. 939-959
    • Glémin, S.1
  • 41
    • 27544474343 scopus 로고    scopus 로고
    • Recombination and the properties of Tajima's D in the context of approximate-likelihood calculation
    • Thornton, K. (2005). Recombination and the properties of Tajima's D in the context of approximate-likelihood calculation. Genetics 171, 2143-2148.
    • (2005) Genetics , vol.171 , pp. 2143-2148
    • Thornton, K.1
  • 43
    • 0028014337 scopus 로고
    • The molecular basis of genetic dominance
    • Wilkie, A.O. (1994). The molecular basis of genetic dominance. J. Med. Genet. 31, 89-98.
    • (1994) J. Med. Genet. , vol.31 , pp. 89-98
    • Wilkie, A.O.1
  • 44
    • 84955349191 scopus 로고
    • A mathematical theory of natural and artificial selection, part V: Selection and mutation
    • Haldane, J.B.S. (1927). A mathematical theory of natural and artificial selection, part V: selection and mutation. Math. Proc. Camb. Philos. Soc. 23, 838-844.
    • (1927) Math. Proc. Camb. Philos. Soc. , vol.23 , pp. 838-844
    • Haldane, J.B.S.1
  • 45
    • 0015405272 scopus 로고
    • Mutation rate and dominance of genes affecting viability in Drosophila melanogaster
    • Mukai, T., Chigusa, S.I., Mettler, L.E., and Crow, J.F. (1972). Mutation rate and dominance of genes affecting viability in Drosophila melanogaster. Genetics 72, 335-355.
    • (1972) Genetics , vol.72 , pp. 335-355
    • Mukai, T.1    Chigusa, S.I.2    Mettler, L.E.3    Crow, J.F.4
  • 46
    • 77951697965 scopus 로고    scopus 로고
    • Spontaneous mutation accumulation studies in evolutionary genetics
    • Halligan, D.L., and Keightley, P.D. (2009). Spontaneous mutation accumulation studies in evolutionary genetics. Annu. Rev. Ecol. Evol. Syst. 40, 151-172.
    • (2009) Annu. Rev. Ecol. Evol. Syst. , vol.40 , pp. 151-172
    • Halligan, D.L.1    Keightley, P.D.2
  • 47
    • 78651353592 scopus 로고    scopus 로고
    • Disease-associated alleles in genome-wide association studies are enriched for derived low frequency alleles relative to HapMap and neutral expectations
    • Lachance, J. (2010). Disease-associated alleles in genome-wide association studies are enriched for derived low frequency alleles relative to HapMap and neutral expectations. BMC Med. Genomics 3, 57.
    • (2010) BMC Med. Genomics , vol.3 , pp. 57
    • Lachance, J.1
  • 48
    • 84866111524 scopus 로고    scopus 로고
    • Evolutionary diagnosis method for variants in personal exomes
    • Kumar, S., Sanderford, M., Gray, V.E., Ye, J., and Liu, L. (2012). Evolutionary diagnosis method for variants in personal exomes. Nat. Methods 9, 855-856.
    • (2012) Nat. Methods , vol.9 , pp. 855-856
    • Kumar, S.1    Sanderford, M.2    Gray, V.E.3    Ye, J.4    Liu, L.5
  • 50
    • 26444571758 scopus 로고    scopus 로고
    • An evolutionary framework for common diseases: The ancestral-susceptibility model
    • Di Rienzo, A., and Hudson, R.R. (2005). An evolutionary framework for common diseases: the ancestral-susceptibility model. TRENDS in Genetics 21, 596-601.
    • (2005) TRENDS in Genetics , vol.21 , pp. 596-601
    • Di Rienzo, A.1    Hudson, R.R.2
  • 51
    • 84860817223 scopus 로고    scopus 로고
    • Recent explosive human population growth has resulted in an excess of rare genetic variants
    • Keinan, A., and Clark, A.G. (2012). Recent explosive human population growth has resulted in an excess of rare genetic variants. Science 336, 740-743.
    • (2012) Science , vol.336 , pp. 740-743
    • Keinan, A.1    Clark, A.G.2
  • 52
    • 73449149044 scopus 로고    scopus 로고
    • Inferring the joint demographic history of multiple populations from multidimensional SNP frequency data
    • Gutenkunst, R.N., Hernandez, R.D., Williamson, S.H., and Bustamante, C.D. (2009). Inferring the joint demographic history of multiple populations from multidimensional SNP frequency data. PLoS Genet. 5, e1000695.
    • (2009) PLoS Genet. , vol.5 , pp. e1000695
    • Gutenkunst, R.N.1    Hernandez, R.D.2    Williamson, S.H.3    Bustamante, C.D.4
  • 55
    • 84873587736 scopus 로고    scopus 로고
    • Phylogenetic patterns of GC-biased gene conversion in placental mammals and the evolutionary dynamics of recombination landscapes
    • Lartillot, N. (2013). Phylogenetic patterns of GC-biased gene conversion in placental mammals and the evolutionary dynamics of recombination landscapes. Mol. Biol. Evol. 30, 489-502.
    • (2013) Mol. Biol. Evol. , vol.30 , pp. 489-502
    • Lartillot, N.1
  • 56
    • 84888597013 scopus 로고    scopus 로고
    • Linking great apes genome evolution across time scales using polymorphism- aware phylogenetic models
    • De Maio, N., Schlötterer, C., and Kosiol, C. (2013). Linking great apes genome evolution across time scales using polymorphism- aware phylogenetic models. Mol. Biol. Evol. 30, 2249-2262.
    • (2013) Mol. Biol. Evol. , vol.30 , pp. 2249-2262
    • De Maio, N.1    Schlötterer, C.2    Kosiol, C.3
  • 57
    • 84868143643 scopus 로고    scopus 로고
    • The many landscapes of recombination in Drosophila melanogaster
    • Comeron, J.M., Ratnappan, R., and Bailin, S. (2012). The many landscapes of recombination in Drosophila melanogaster. PLoS Genet. 8, e1002905.
    • (2012) PLoS Genet. , vol.8 , pp. e1002905
    • Comeron, J.M.1    Ratnappan, R.2    Bailin, S.3
  • 58
    • 0034977045 scopus 로고    scopus 로고
    • Linkage disequilibrium in humans: Models and data
    • Pritchard, J.K., and Przeworski, M. (2001). Linkage disequilibrium in humans: models and data. Am. J. Hum. Genet. 69, 1-14.
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 1-14
    • Pritchard, J.K.1    Przeworski, M.2
  • 59
    • 84857859271 scopus 로고    scopus 로고
    • Interlocus gene conversion events introduce deleterious mutations into at least 1% of human genes associated with inherited disease
    • Casola, C., Zekonyte, U., Phillips, A.D., Cooper, D.N., and Hahn, M.W. (2012). Interlocus gene conversion events introduce deleterious mutations into at least 1% of human genes associated with inherited disease. Genome Res. 22, 429-435.
    • (2012) Genome Res. , vol.22 , pp. 429-435
    • Casola, C.1    Zekonyte, U.2    Phillips, A.D.3    Cooper, D.N.4    Hahn, M.W.5
  • 60
    • 84884630559 scopus 로고    scopus 로고
    • A model-based analysis of GC-biased gene conversion in the human and chimpanzee genomes
    • Capra, J.A., Hubisz, M.J., Kostka, D., Pollard, K.S., and Siepel, A. (2013). A model-based analysis of GC-biased gene conversion in the human and chimpanzee genomes. PLoS Genet. 9, e1003684.
    • (2013) PLoS Genet. , vol.9 , pp. e1003684
    • Capra, J.A.1    Hubisz, M.J.2    Kostka, D.3    Pollard, K.S.4    Siepel, A.5


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