• We are sorry, but NCBI web applications do not support your browser and may not function properly. More information
Logo of geneticsGeneticsCurrent IssueInformation for AuthorsEditorial BoardSubscribeSubmit a Manuscript
Genetics. Jun 2004; 167(2): 815–826.
PMCID: PMC1470907

Estimates of the genomic mutation rate for detrimental alleles in Drosophila melanogaster.

Abstract

The net rate of mutation to deleterious but nonlethal alleles and the sizes of effects of these mutations are of great significance for many evolutionary questions. Here we describe three replicate experiments in which mutations have been accumulated on chromosome 3 of Drosophila melanogaster by means of single-male backcrosses of heterozygotes for a wild-type third chromosome. Egg-to-adult viability was assayed for nonlethal homozygous chromosomes. The rates of decline in mean and increase in variance (DM and DV, respectively) were estimated. Scaled up to the diploid whole genome, the mean DM for homozygous detrimental mutations over the three experiments was between 0.8 and 1.8%. The corresponding DV estimate was approximately 0.11%. Overall, the results suggest a lower bound estimate of at least 12% for the diploid per genome mutation rate for detrimentals. The upper bound estimates for the mean selection coefficient were between 2 and 10%, depending on the method used. Mutations with selection coefficients of at least a few percent must be the major contributors to the effects detected here and are likely to be caused mostly by transposable element insertions or indels.

Full Text

The Full Text of this article is available as a PDF (121K).

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Adams MD, Celniker SE, Holt RA, Evans CA, Gocayne JD, Amanatides PG, Scherer SE, Li PW, Hoskins RA, Galle RF, et al. The genome sequence of Drosophila melanogaster. Science. 2000 Mar 24;287(5461):2185–2195. [PubMed]
  • García-Dorado A, Caballero A. On the average coefficient of dominance of deleterious spontaneous mutations. Genetics. 2000 Aug;155(4):1991–2001. [PMC free article] [PubMed]
  • García-Dorado Aurora, Gallego Araceli. Comparing analysis methods for mutation-accumulation data: a simulation study. Genetics. 2003 Jun;164(2):807–819. [PMC free article] [PubMed]
  • Halligan Daniel L, Eyre-Walker Adam, Andolfatto Peter, Keightley Peter D. Patterns of evolutionary constraints in intronic and intergenic DNA of Drosophila. Genome Res. 2004 Feb;14(2):273–279. [PMC free article] [PubMed]
  • Houle D, Hoffmaster DK, Assimacopoulos S, Charlesworth B. The genomic mutation rate for fitness in Drosophila. Nature. 1992 Sep 3;359(6390):58–60. [PubMed]
  • Caballero A, Cusi E, García C, García-Dorado A. Accumulation of deleterious mutations: additional Drosophila melanogaster estimates and a simulation of the effects of selection. Evolution. 2002 Jun;56(6):1150–1159. [PubMed]
  • Houle D, Kondrashov AS, Yampolsky LY, Caldwell S, Steponkus PL. The effect of cryopreservation on the lethal mutation rate in Drosophila melanogaster. Genet Res. 1997 Jun;69(3):209–213. [PubMed]
  • Jensen Mark A, Charlesworth Brian, Kreitman Martin. Patterns of genetic variation at a chromosome 4 locus of Drosophila melanogaster and D. simulans. Genetics. 2002 Feb;160(2):493–507. [PMC free article] [PubMed]
  • Keightley PD, Eyre-Walker A. Terumi Mukai and the riddle of deleterious mutation rates. Genetics. 1999 Oct;153(2):515–523. [PMC free article] [PubMed]
  • Keightley PD, Eyre-Walker A. Deleterious mutations and the evolution of sex. Science. 2000 Oct 13;290(5490):331–333. [PubMed]
  • Keightley Peter D, Lynch Michael. Toward a realistic model of mutations affecting fitness. Evolution. 2003 Mar;57(3):683–689. [PubMed]
  • Charlesworth B, Charlesworth D. Some evolutionary consequences of deleterious mutations. Genetica. 1998;102-103(1-6):3–19. [PubMed]
  • Kondrashov AS. Deleterious mutations and the evolution of sexual reproduction. Nature. 1988 Dec 1;336(6198):435–440. [PubMed]
  • Kondrashov AS. Classification of hypotheses on the advantage of amphimixis. J Hered. 1993 Sep-Oct;84(5):372–387. [PubMed]
  • Charlesworth B, Jarne P, Assimacopoulos S. The distribution of transposable elements within and between chromosomes in a population of Drosophila melanogaster. III. Element abundances in heterochromatin. Genet Res. 1994 Dec;64(3):183–197. [PubMed]
  • Lyman RF, Lawrence F, Nuzhdin SV, Mackay TF. Effects of single P-element insertions on bristle number and viability in Drosophila melanogaster. Genetics. 1996 May;143(1):277–292. [PMC free article] [PubMed]
  • Chavarrías D, López-Fanjul C, García-Dorado A. The rate of mutation and the homozygous and heterozygous mutational effects for competitive viability: a long-term experiment with Drosophila melanogaster. Genetics. 2001 Jun;158(2):681–693. [PMC free article] [PubMed]
  • Mackay TF, Lyman RF, Jackson MS. Effects of P element insertions on quantitative traits in Drosophila melanogaster. Genetics. 1992 Feb;130(2):315–332. [PMC free article] [PubMed]
  • Maside X, Assimacopoulos S, Charlesworth B. Rates of movement of transposable elements on the second chromosome of Drosophila melanogaster. Genet Res. 2000 Jun;75(3):275–284. [PubMed]
  • Davies EK, Peters AD, Keightley PD. High frequency of cryptic deleterious mutations in Caenorhabditis elegans. Science. 1999 Sep 10;285(5434):1748–1751. [PubMed]
  • Mukai T, Chigusa SI, Mettler LE, Crow JF. Mutation rate and dominance of genes affecting viability in Drosophila melanogaster. Genetics. 1972 Oct;72(2):335–355. [PMC free article] [PubMed]
  • Eggleston WB, Johnson-Schlitz DM, Engels WR. P-M hybrid dysgenesis does not mobilize other transposable element families in D. melanogaster. Nature. 1988 Jan 28;331(6154):368–370. [PubMed]
  • Nuzhdin SV, Pasyukova EG, Morozova EA, Flavell AJ. Quantitative genetic analysis of copia retrotransposon activity in inbred Drosophila melanogaster lines. Genetics. 1998 Oct;150(2):755–766. [PMC free article] [PubMed]
  • Fry JD. Rapid mutational declines of viability in Drosophila. Genet Res. 2001 Feb;77(1):53–60. [PubMed]
  • Fry James D, Heinsohn Stefanie L. Environment dependence of mutational parameters for viability in Drosophila melanogaster. Genetics. 2002 Jul;161(3):1155–1167. [PMC free article] [PubMed]
  • Rivero Ana, Balloux Francois, West Stuart A. Testing for epistasis between deleterious mutations in a parasitoid wasp. Evolution. 2003 Jul;57(7):1698–1703. [PubMed]
  • Fry James D, Nuzhdin Sergey V. Dominance of mutations affecting viability in Drosophila melanogaster. Genetics. 2003 Apr;163(4):1357–1364. [PMC free article] [PubMed]
  • Shabalina SA, Yampolsky LYu, Kondrashov AS. Rapid decline of fitness in panmictic populations of Drosophila melanogaster maintained under relaxed natural selection. Proc Natl Acad Sci U S A. 1997 Nov 25;94(24):13034–13039. [PMC free article] [PubMed]
  • Shaw Frank H, Geyer Charles J, Shaw Ruth G. A comprehensive model of mutations affecting fitness and inferences for Arabidopsis thaliana. Evolution. 2002 Mar;56(3):453–463. [PubMed]
  • Simmons MJ, Johnson NA, Fahey TM, Nellett SM, Raymond JD. High mutability in male hybrids of Drosophila melanogaster. Genetics. 1980 Oct;96(2):479–480. [PMC free article] [PubMed]
  • Szafraniec Krzysztof, Wloch Dominika M, Sliwa Piotr, Borts Rhona H, Korona Ryszard. Small fitness effects and weak genetic interactions between deleterious mutations in heterozygous loci of the yeast Saccharomyces cerevisiae. Genet Res. 2003 Aug;82(1):19–31. [PubMed]

Articles from Genetics are provided here courtesy of Genetics Society of America

Formats:

Related citations in PubMed

See reviews...See all...

Cited by other articles in PMC

See all...

Links

Recent Activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...