Abstract
Parameters of the deleterious mutation process can be estimated using the data on genotypes, phenotypes, or fitnesses. These data can be on long-term evolution, on short-term changes, or on the properties of equilibrium populations. The two most important parameters at the genomic level, the total deleterious mutation rate U and the mutational pressure on fitness P, remain poorly known. Reliable data on the rates of presumably neutral evolution, together with less certain estimates of the functionally important fraction of the genome, suggest that in mammals U > 1. The magnitudes of inbreeding depression in populations of selfers imply U ∼ 1 in flowering plants. The straightforward way to estimate P is to assay the decline of fitness in populations with relaxed selection. The relevant data are contradictory, possibly because the results of the measurement of fitness depend strongly on the environmental conditions.
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References
Agren, J. & D. Schemske, 1993. Outcrossing rate and inbreeding depression in two annual monoecious herbs, Begonia hirsuta and B. semiovata. Evolution 47: 125–135.
Andersson, D.I. & D. Hughes, 1996. Muller’s ratchet decreases fitness of a DNA-based microbe. Proc. Natl. Acad. Sci. USA 93: 906–907.
Andreassen, R., T. Egeland & B. Olaisen, 1996. Mutation rate in the hypervariable VNTR g3 (D7S22) is affected by allele length and flanking DNA sequence polymorphism near the repeat array. Amer. J. Hum. Genet. 59: 360–367.
Andrew, S.E., S. Pownall, J. Fox, L. Hsiao, J. Hambleton, J.E. Penney, S.W. Kohler & E.R. Jirik, 1996. A novel lacI transgenic mutation-detection system and its application to establish baseline mutation frequencies in the scid mouse. Mut. Res. 357: 57–66.
Arnason, U., X. Xu & A. Gullberg, 1996. Comparison between the complete mitochondrial DNA sequences of Homo and the common chimpanzee based on nonchimeric sequences. J. Mol. Evol. 42: 145–152.
Bachl, J. & M. Wabl, 1996. Enhancers of hypermutation. Immuno-genetics 45: 59–64.
Barrett, S.C.H. & D. Charlesworth, 1991. Effects of a change in the level of inbreeding on the genetic load. Nature 352: 522–524.
Bellus, G.A., T.W. Hefferon, R.I.O. De-Luna, J.T. Hecht, W.A. Horton, M. Machado, I. Kaitila, I. Mclntosh & C.A. Francomano, 1995. Achondroplasia is defined by recurrent G380R mutations of FGFR3. Amer. J. Hum. Gen. 56: 368–373.
Bernardi, G., 1993. The isochore organization of the human genome and its evolutionary history: A review. Gene 135: 57–66.
Bottema, C.D.K., R.P. Ketterling, S. Li, H.-S. Yoon, J.A. Phillips III & S.S. Sommer, 1991. Missence mutations and evolutionary conservation of amino acids: evidence that many of the amino acids in factor IX function as’ spacer’ elements. Am. J. Hum. Genet. 49: 820–828.
Bittles, A.H. & J.V. Neel, 1994. The costs of human inbreeding and their implications for variations at the DNA level. Nature Genetics 8: 117–121.
Britten, R.J., 1986. Rates of DNA sequence evolution differ between taxonomic groups. Science 231: 1393–1398.
Britten, R.J., 1996. DNA sequence insertion and evolutionary varia tion in gene regulation. Proc. Natl. Acad. of Sci. USA 93: 9374–9377.
Cabrallero, A., P.D. Keightley & W.G. Hill, 1995. Accumulation of mutations affecting body weight in inbred mouse lines. Genet. Res. 65: 145–149.
Caccone, A., G.D. Amato & J.R. Powell, 1988. Rates and Pat terns of scnDNA and mtDNA divergence within the Drosophila melanogaster subgroup. Genetics 118: 671–683.
Caccone, A., R. Desalle & J.R. Powell, 1988. Calibration of the change in thermal stability of DNA duplexes and degree of base pair mismatch. J. Mol. Evol. 27: 212–216.
Caccone, A. & J.R. Powell, 1989. DNA divergence among hominoids. Evolution 43: 925–942.
Charlesworth, B., 1996. Background selection and patterns of genet ic diversity in Drosophila melanogaster. Genet. Res. 68: 131–149.
Charlesworth, B., D. Charlesworth & M.T. Morgan, 1990. Genet ic loads and estimates of mutation rates in highly inbred plant populations. Nature 347: 380–382.
Charlesworth, B. & N.H. Barton, 1996. Recombination load asso ciated with selection for increased recombination. Genetical Research 67: 27–41.
Charlesworth, B. & K.A. Hughes, 1997. The quantitative genetics of life history traits.
Charlesworth, D., M.T. Morgan & B. Charlesworth, 1990. Inbreed ing depression genetic load and the evolution of outcrossing rates in a multilocus system with no linkage. Evolution 44: 1469–1489.
Charlesworth, D., E.E. Lyons & L.B. Litchfield, 1994. Inbreeding depression in two highly inbreeding populations of Leavenworthia. Proc. Roy. Soc. Lond. B 258: 209–214.
Clark, A.G., L. Wang & T. Hulleberg, 1995. Spontaneous mutation rate of modifiers of metabolism in Drosophila. Genetics 139: 767–779.
Cohn, V.H. & G.P. Moore, 1988. Organization and evolution of the alcohol dehydrogenase gene in Drosophila. Mol. Biol. Evol. 5: 154–166.
Cole, J. & T.R. Skopek, 1994. Somatic mutation frequency, mutation rates and mutational spectra in the human population in vivo. Mut. Res. 304: 33–105.
Crow, J.F., 1970. Genetic loads and the cost of natural selection, pp. 128–177 in: Mathematical Topics in Population Genetics edited by K. Kojima, Springer, Heidelberg.
Crow, J.F., 1979. Minor viability mutants in Drosophila. Genetics 92 (Suppl.): 165–172.
Crow, J.F., 1993. How much do we know about spontaneous human mutation rates?. Env. Mol. Mutagen. 21: 122–129.
Crow, J.F., 1997. The high spontaneous mutation rate: Is it a health risk?. Proc. Natl. Sci. USA 94: 8380–8386.
Crow, J. F. & M. Kimura, 1979. Efficiency of truncation selection. Proc. Natl. Acad. Sci. USA 76: 396–399.
Crow, J. F. & M. J. Simmons, 1983. The mutation load in Drosophila, pp. 1–35 in The genetics and biology of Drosophila, Vol 3C edited by M. Ashburner, H.L. Carson, & J.N. Thompson, Jr. Academic Press, New York.
Crow, J.F. & C. Denniston, 1985. Mutation in human populations. Adv. Hum. Genet. 14: 59–123.
Curry, J., G. Bebb, J. Moffat, D. Young, M. Khaidakov, A. Mortimer & B.W. Glickman, 1997. Similar mutant frequencies observed between pairs of monozygotic twins. Human Mutation 9: 445–451.
Darwin, C., 1859. The Origin of Species. Murray, London.
Datta, A. & S. Jinks-Robertson, 1995. Association of increased spontaneous mutation rates with high levels of transcription in yeast. Science 268: 1616–1619.
Deng, H.W. & M. Lynch, 1996. Estimation of deleterious-mutation parameters in natural populations. Genetics 144: 349–360.
Deng, H.W. & Y.X. Fu, 1996. The effects of variable mutation rates across sites on the phylogenetic estimation of effective population size of mutation rate of DNA sequences. Genetics 144: 1271–1281.
Douzery, E., J.D. Lebreton & F.M. Catzeflis, 1995. Testing the gen eration time hypothesis using DNA-DNA hybridization between artiodactyls. J. Evol. Biol. 8: 511–529.
Drake, J.W., 1991. A constant rate of spontaneous mutation in DNA-based microbes. Proc. Natl. Acad. Sci. USA 88: 7160–7164.
Drake, J.W., 1993a. Rates of spontaneous mutation among RNA viruses. Proc. Natl. Acad. Sci. USA 90: 4171–4175.
Drake, J.W., 1993b. General antimutators are improbable. J. Mol. Biol. 229: 8–13.
Drost, J.B. & W.R. Lee, 1995. Biological basis of germline muta tion: Comparisons of spontaneous germline mutation rates among drosophila, mouse, and human. Env. Mol. Mutagen. 25(SUPPL. 26): 48–64.
Dutton, C.M., C.D.K. Bottema & S.S. Sommer, 1993. Alu repeats in the human factor IX gene: The rate of polymorphism is not substantially elevated. Human Mutation 2: 468–472.
Easteal, S. & C. Collet, 1994. Consistent variation in amino-acid substitution rate, despite uniformity of mutation rate: Protein evolution in mammals is not neutral. Mol. Biol. Evol. 11: 643–647.
Eeken, J.C.J., A.W.M. De Jong & M.M. Green, 1987. The spon taneous mutation rate in Drosophila simulons. Mut. Res. 192: 259–262.
Evtushenko, V.I., K.P. Hanson, O.V Barabitskaya, A.V. Emelyanov, V.L. Reshetnikov & A.P. Kozlov, 1989. An attempt to deter mine the maximal expression of the rat genome. Molekulyarnaya Biologiya 23: 663–675 (Russian).
Favor, J., 1994. Spontaneous mutations in germ line cells of the mouse: estimates of mutation frequencies and a molecular char acterization of mutagenic events. Mut. Res. 304: 107–118.
Fernandez, J. & C. Lopez-Fanjul, 1996. Spontaneous mutational variances and covariances for fitness-related traits in Drosophila melanogaster. Genetics 143: 829–837.
Fu, Y.X., 1996. New statistical tests of neutrality for DNA samples from a population. Genetics 143: 557–570.
Goodwin, R.L., H. Baumann & F.G. Berger, 1996. Patterns of diver gence during evolution of alpha-1-proteinase inhibitors in mam mals. Mol. Biol. Evol. 13: 346–358.
Hammer, M.F., 1995. A recent common ancestry for human Y Chromosomes. Nature 378: 376–378.
Harada, K., 1995. A quantitative analysis of modifier mutations which occur in mutation accumulation lines in Drosophila melanogaster. Heredity 75: 589–598.
Harada, K., S.I. Kusakabe, T. Yamazaki & T. Mukai, 1993. Sponta neous mutation rates in null and band-morph mutations of enzyme loci in Drosophila melanogaster. Japan. J. Genet. 68: 605–616.
Horai, S. & K. Hayasaka, R. Kondo, K. Tsugane & N. Takahata, 1995. Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs. Proc. Natl. Acad. Sci. USA 92: 532–536.
Houle, D., 1989. The maintenance of polygenic variation in finite populations. Evolution 43: 1767–1780.
Houle, D., D.K. Hoffmaster, S. Assimacopoulos & B. Charlesworth, 1992. The genomic mutation rate for fitness in Drosophila. Nature 359: 58–60.
Houle, D., B. Morikawa & M. Lynch, 1996. Comparing mutational variabilities. Genetics 143: 1467–1483.
Houle, D., A.S. Kondrashov, L. Yu. Yampolsky, S. Caldwell & P.L. Steponkus, 1997. The effect of cryopreservation on the lethal mutation rate in Drosophila melanogaster. Genet. Res.
Howell, N., 1996. Mutational analysis of the human mitochondrial genome branches into the realm of bacterial genetics. Amer. J. Hum. Genet. 59: 749–755.
Howell, N., I. Kubacka & D.A. Mackey, 1996. How rapidly does the human mitochondrial genome evolve?. Amer. J. Hum. Genet. 59: 501–509.
Husband, B.C. & D.W. Schemske, 1996. Evolution of the magnitude and timing of inbreeding depression in plants. Evolution 50: 54–70.
Jacobs, K.L. & D.W. Grogan, 1997. Rates of spontaneous mutation in a archaeon from geothermal environments. J. Bact. 179: 3298–3303.
Jimenez, J.A., K.A. Hughes, G. Alaks, L. Graham, & R.C. Lacy, 1994. An experimental study of inbreeding depression in a natural habitat. Science 266: 271–273.
Jin, L., C. Macaubas, J. Hallmayer, A. Kimura & E. Mignot, 1996. Mutation rate varies among alleles at a microsatellite locus: Phy logenetic evidence. Proc. Natl. Acad. Sci. USA 93: 15285–15288.
Johnston, M.O. & D.J. Schoen, 1995. Mutation rates and dominance levels of genes affecting total fitness in two angiosperm species. Science 267: 226–229.
Johnston, M.O. & D.J. Schoen, 1996. Correlated evolution of selffertilization and inbreeding depression: An experimental study of nine populations of Amsinckia (Boraginaceae). Evolution 50: 1478–1491.
Karkkainen, K., V. Koski & O. Savolainen, 1996. Geographical variation in the inbreeding depression of Scots pine. Evolution 50: 111–119.
Karotam, J., T.M. Boyce & J.G. Oakeshott, 1995. Nucleotide varia tion at the hypervariable esterase 6 isozyme locus of Drosophila simulons. Mol. Biol. Evol. 12: 113–122.
Kawecki, T.J., 1997. Sympatric speciation via habitat specialization driven by deleterious mutations. Evolution. 51: 1751–1763.
Keightley, P.D., 1994. The distribution of mutation effects on viability in Drosophila melanogaster. Genetics 138: 1315–1322.
Keightley, P.D., 1996. Nature of deleterious mutation load in Drosophila. Genetics 144: 1993–1999.
Keightley, P.D. & A. Caballero, 1997. Genomic mutation rates fro lifetime reproductive output and life span in Caenorhadbitis elegans. Proc. Natl. Acad. Sci. USA 94: 3823–3827.
Kibota, T.T. & M. Lynch, 1996. Estimate of the genomic mutation rate deleterious to overall fitness in E. coli. Nature 381: 694–696.
Kimura, M., 1983. The Neutral Theory of Molecular Evolution. Cambridge Univ. Press.
Kimura, M. & T. Ohta, 1969. The average number of generations until extinction of an individual mutant gene in a finite population. Genetics 63: 701–709.
Kisakibaru, Y. & H. Matsuda, 1995. Nucleotide substitution type dependence of generation time effect of molecular evolution. Japan. J. Genet. 70: 373–386.
Klekowski, E.J. Jr., 1992. Mutation rates in diploid annuals-are they immutable?. Int. J. Plant. Sci. 153: 462–465.
Knight, A., M.A. Batzer, M. Stoneking, H.K. Tiwari, W.D. Scheer, R J. Herrera & P.L. Deininger, 1996. DNA sequences of Alu elements indicate a recent replacement of the human autosomal genetic complement. Proc. Natl. Acad. Sci. USA 93: 4360–4364.
Koeberl, D.D., C.D.K. Bottema, R.P. Ketterling, P.J. Bridge, D.P. Lillicrap & S.S. Sommer, 1990. Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene. Am. J. Hum. Genet. 47: 202–217.
Koga, A., K. Harada, S. Kusakabe & T. Mukai, 1992. Spontaneous mutations affecting glycerol-3-phosphate dehydrogenase enzyme activity in Drosophila melanogaster. Japan. J. Genet. 67: 125–132.
Kondrashov, A.S., 1988. Deleterious mutations and the evolution of sexual reproduction. Nature 336: 435–440.
Kondrashov, A.S., 1995a. Contamination of the genome by very slightly deleterious mutations: why have we not died 100 times over?. J. Theor. Biol. 175: 583–594.
Kondrashov, A.S., 1995b. Modifiers of reproduction under the mutation-selection balance: general approach and the evolution of mutability. Genet. Res. 66: 53–69.
Kondrashov, A.S., 1997. Evolutionary genetics of life cycles. Ann. Rev. Ecol. Syst. 28: 391–435.
Kondrashov, A.S. & M. Turelli, 1992. Deleterious mutations, quanti tative variation, and apparent stabilizing selection. Genetics 132: 603–618.
Kondrashov, A.S. & J.F. Crow, 1993. A molecular approach to esti mating the human deleterious mutation rate. Human Mutation 2: 229–234.
Kondrashov, A.S. & D. Houle, 1994. Genotype-environment interac tions and the estimation of the genomic mutation rate in Drosophila melanogaster. Proc. Roy. Soc. Lond. B 258: 221–227.
Kuhner, M.K., J. Yamato & J. Felsenstein, 1995. Estimating effec tive population size and mutation rate from sequence data using Metropolis-Hastings sampling. Genetics 140: 1421–1430.
Kuick, R.D., J.V. Neel, J.R. Strahler, E.H.Y. Chu, R. Bargal, D.A. Fox & S.M. Hanash, 1992. Similarity of spontaneous germinal and in-vitro somatic cell mutation rates in humans implications for carcinogenesis and for the role of exogenous factors in spon taneous germinal mutagenesis. Proc. Natl. Acad. Sci. USA 89: 7036–7040.
Lande, R., 1995. Mutation and conservation. Conserv. Biol. 9: 782–791.
Lee, Y.-H., T. Ota & V.D. Vacquier, 1995. Positive selection is a general phenomenon in the evolution of abalone sperm lysin. Mol. Biol. Evol. 12: 231–238.
Li, W.-H., T. Gojobori & M. Nei, 1980. Pseudogenes as a paradigm of neutral evolution. Nature 292: 237–239.
Li, W.-H. & L.A. Sadler, 1991. Low nucleotide diversity in man. Genetics 129: 513–523.
Li, W.-H., D.L. Ellsworth, J. Krushkal, B.H.J. Chang & D. Hewett-Emmett, 1996. Rates of nucleotide substitution in primates and rodents and the generation-time effect hypothesis. Mol. Phyl. Evol. 5: 182–187.
Lopez, J.V., M. Culver, J.C. Stephens, W.E. Johnson & S.J. O’Brien, 1997. Rates of nuclear and cytoplasmic mitochondrial DNA sequence divergence in mammals. Mol. Biol. Evol. 14: 277–286.
Lynch, M., 1985. Spontaneous mutations for life-history characters in an obligate parthenogen. Evolution 34: 804–818.
Lynch, M., 1988. The rate of polygenic mutation. Genet. Res. 51: 137–148.
Mackay, T.F.C. & J.D. Fry, 1996. Polygenic mutation in Drosophila melanogaster. Genetic interactions between selection lines and candidate quantitative trait loci. Genetics 144: 671–688.
Malmgren, H., J. Gustavsson, T. Tuvemo & N. Dahl, 1996. Rapid detection of a mutation hot-spot in the human androgen receptor. Clinical Genetics 50: 202–205.
Martins, E.P., 1994. Estimating the rate of phenotypic evolution from comparative data. Amer. Nat. 144: 193–209.
May, C.A., A.J. Jeffreys & J.A.L. Armour, 1996. Mutation rate heterogeneity and the generation of allele diversity at the human minisatellite MS205 (D16S309). Hum. Mol. Genet. 5: 1823–1833.
McVean, G.T. & L.D. Hurst, 1997. Evidence for a selectively favourable reduction in the mutation rate of the X chromosome. Nature 386: 388–392.
Messier, W. & C.B. Stewart, 1997. Episodic adaptive evolution of primate lysozymes. Nature 385: 151–154.
Mitra, R., B.M. Pettitt & R.D. Blake, 1995. Conformational states governing the rates of spontaneous transition mutations. Biopolymers 36: 169–179.
Mohrenweiser, H., 1994. Impact of the molecular spectrum of mutational lesions on estimates of germinal gene-mutation rates. Mut. Res. 304: 119–137.
Monckton, D.G., R. Neumann, T. Guram, N. Fretwell, K. Tamaki, A. MacLeod & A.J. Jeffreys, 1994. Minisatellite mutation rate vari ation associated with a flanking DNA sequence polymorphism. Nature Genetics 8: 162–170.
Moriyama, E.N. & D.L. Hartl, 1993. Codon usage bias and base composition of nuclear genes in Drosophila. Genetics 134: 847–858.
Morton, N.E., J.F. Crow & H.J. Muller, 1956. An estimate of the mutational damage in man from data on consanguineous mar riages. Proc. Natl. Acad. Sci. USA 42: 855–863.
Mukai, T., 1964. The genetic structure of natural populations of Drosophila melanogaster. iI. Spontaneous mutation rate of polygenes controlling viability. Genetics 50: 1–19.
Mukai, T., S.T. Chigusa, L.E. Mettler & J.F. Crow, 1972. Mutation rate and dominance of genes affecting viability in Drosophila melanogaster. Genetics 72: 335–355.
Mukai, T. & C. C. Cockerham, 1977. Spontaneous mutation rates of enzyme loci in Drosophila melanogaster. Proc. Natl. Acad. Sci. USA 74: 2514–2517.
Muller, H.J., 1950. Our load of mutations. Amer. J. Hum. Genet. 2: 111–176.
Neel, J.V., 1983. Frequency of spontaneous and induced ‘point’ mutation in higher eukaryotes. J. of Heredity 74: 2–15.
Neel, J.V., C. Satoh, K. Goriki, M. Fujita, N. Takahashi, J. Asakawa & R. Hazama, 1986a. The rate with which spontaneous mutation alters the electrophoretic mobility of polypeptides. Proc. Natl. Acad. Sci. USA 83: 389–393.
Neel, J.V., H.W. Mohrenweiser, E.D. Rothman & J. M. Naidu, 1986b. A revised indirect estimate of mutation rates in Amerindi ans. Am. J. Hum. Genet. 38: 649–666.
Nei, M., 1977. Estimation of mutation rates from rare protein vari ants. Am. J. Hum. Genet. 29: 225–232.
Nelson, K. & L.B. Holmes, 1989. Malformations due to presumed spontaneous mutations in newborn infants. New Eng. J. Med. 320: 19–23.
Nuzhdin, S.V. & T.F.C. Mackay, 1994. Direct determination of retro transposition rates in Drosophila melanogaster. Genet. Res. 63: 139–144.
Ohnishi, O., 1977. Spontaneous and ethyl methanesulfonate-induced mutations controlling viability in Drosophila melanogaster. II Homozygous effects of polygenic mutations. Genetics 87: 529–545.
Ohta, T., 1993a. Amino acid substitution at the Adh locus of Drosophila is facilitated by small population size. Proc. Natl. Acad. Sci. USA 90: 4548–4551.
Ohta, T., 1993b. An examination of the generation-time effect on molecular evolution. Proc. Natl. Acad. Sci. USA 90: 10676–10680.
Ohta, T. & C.C. Cockerham, 1974. Detrimental genes with partial selfing and effects on a neutral locus. Genet. Res. 23: 191–200.
Partridge, L. & N.H. Barton, 1993. Optimality, mutation and the evolution of ageing. Nature 362: 305–311.
Paunio, T., Y. Sunada, S. Kiuru, H. Makishita, S.I. Ikeda, J. Weissenbach, J. Palo & L. Peltonen, 1995. Haplotype analysis in gelsolin-related amyloidosis reveals independent origin of iden tical mutation (G654A) of gelsolin in Finland and Japan. Hum. Mut. 6: 60–65.
Petrov, D.A., E.R. Lozovskaya & D.L. Hartl, 1996. High intrinsic rate of DNA loss in Drosophila. Nature 384: 346–349.
Prior, T.W., C. Bartolo, D.K. Pearl, A.C. Papp, P. J. Snyder, M.S. Sedra, A.H.M. Burghes & J.R. Mendell, 1995. Spectrum, of small mutations in the dystrophin coding region. Am. J. Hum. Genet. 57: 22–33.
Ritland, K., 1996. Inferring the genetic basis of inbreeding depres sion in plants. Genome 39: 1–8.
Roberts, J.D. & T.A. Kunkel, 1996. Fidelity of DNA replication pp.217-247 in Cold Spring Harbour Monograph Series, 31 DNA replication in eukaryotic cells edited by M.L. DePamphilis.
Roest, P.A.M., M. Bout, A.C. Van Der Tuijn, I.B. Ginjaar, E. Bakker, F.B.L. Hogervorst, G.J.B. Van Ommen & J.T. Den Dunnen, 1996. Splicing mutations in DMD-BMD detected by RT-PCR-PTT: Detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD. J. Med. Genet. 33: 935–939.
Rothman, E.D. & J. Adams, 1978. Estimation of expected number of rare alleles of a locus and calculation of mutation rate. Proc. Natl. Acad. Sci. USA 75: 5094–5098.
Rowe, L. & D. Houle, 1996. The lek paradox and the capture of genetic variance by condition dependent traits. Proc. Roy. Soc. Lond. B 263: 1415–1421.
Russell, L.B. & W.L. Russell, 1996. Spontaneous mutations recov ered as mosaics in the mouse specific-locus test. Proc. Natl. Acad. Sci. USA 93: 13072–13077.
Saito, Y., 1994. Is sterility by deleterious recessives an origin of inequalities in the evolution of eusociality?. J. Theor. Biol. 166: 113–115.
Schneppenheim, R., S. Krey, F. Bergmann, D. Bock, U. Budde, M. Lange, R. Linde, U. Mittler, E. Meili, G. Mertes, K. Olek, H. Plendl & E. Simeoni, 1994. Genetic heterogeneity of severe von Willebrand disease type III in the German population. Hum. Genet: 94: 640–652.
Schug, M.D., T.F.C. Mackay & C.F. Aquadro, 1997. Low mutation rates of microsatellite loci in Drosophila melanogaster. Nature Genetics 15: 99–102.
Scott, T.M. & R.K. Koehn, 1990. The effect of environmental stress on the relationship of heterozygosity to growth rate in the coot clam Mulinia lateralis Say. J. Exp. Mar. Biol. Ecol. 135: 109–116.
Shabalina S.A., L. Yu. Yampolsky & A.S. Kondrashov, 1997. Rapid decline of fitness in panmictic populations of Drosophila under relaxed selection. Proc. Natl. Acad. Sci. USA 94: 13034–13039.
Shimmin, L.C., B.H.J. Chang & W.-H. Li, 1993. Male-driven evolution of DNA sequences. Nature 362: 745–747.
Simmons, M.J. & J.F. Crow, 1977. Mutations affecting fitness in Drosophila populations. Ann. Rev. Genet. 11: 49–78.
Sommer, S.S., 1995. Recent human germ-line mutation: inferences from patients with hemophilia B. Trends Genet. 11: 141–147.
Sommer, S.S. & R.P. Ketterling, 1996. The factor IX gene as a model for analysis of human germline mutations: An update. Hum. Mol. Genet. 5: 1505–1514.
Springer, M.S., E.H. Davidson & R.J. Britten, 1992. Calculation of sequence divergence from the thermal stability of DNA heteroduplexes. J. Mol. Evol. 34: 379–382.
Takahata, N., Y. Satta & J. Klein, 1995. Divergence time and popu lation size in the lineage leading to modern humans. Theor. Pop. Biol. 48: 198–221.
Vogel, F. & R. Rathenberg, 1975. Spontaneous mutation in man. Adv. Hum. Genet. 5: 223–318.
Wallace, M.R. & F.S. Collins, 1991. Von Recklinghausen neurofi-bromatosis. Adv. Hum. Genet. 20: 267–307.
Wallis, M., 1997. Function switching as a basis for bursts of rapid change during the evolution of pituitary growth hormone. J. Mol. Evol. 44: 348–350.
Whitfield, L.S., J.E. Sulston & P.N. Goodfellow, 1995. Sequence variation of the human Y chromosome. Nature 378: 379–380.
Wilcox, A.J., C.R. Weinberg & D.D. Baird, 1995. Timing of sexual intercourse in relation to ovulation: Effects on the probability of conception, survival of the pregnancy, and sex of the baby. New Eng. J. Med. 333: 1517–1521.
Wolfe, K.H. & P.M. Sharp, 1993. Mammalian gene evolution nucleotide sequence divergence between mouse and rat. J. Mol. Evol. 37: 441–456.
Woodruff, R.C., B.E. Slatko & J.N. Thompson Jr., 1983. H. L. Carson, & J.N. Thompson, Jr. Academic Press, New York
Yang, A.S., M.L. Gonzalgo, J.M. Zingg, R.P. Millar, J.D. Buckley & P.A. Jones, 1996. The rate of CpG mutation in Alu repetitive elements within the p53 tumor suppressor gene in the primate germline. J. Mol. Biol. 258: 240–250.
Zhou, J., S.J. Spier, J. Beech & E.P. Hoffman, 1994. Pathophysiology of sodium channelopathies: Correlation of normal-mutant mRNA ratios with clinical phenotype in dominantly inherited periodic paralysis. Hum. Mol. Genet. 3: 1599–1603.
Zuckerkandl, E., 1992. Revisiting junk DNA. J. Mol. Evol. 34: 259–271.
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Kondrashov, A.S. (1998). Measuring spontaneous deleterious mutation process. In: Woodruff, R.C., Thompson, J.N. (eds) Mutation and Evolution. Contemporary Issues in Genetics and Evolution, vol 7. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-5210-5_16
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