scholarly journals Estimates of the Genomic Mutation Rate for Detrimental Alleles in Drosophila melanogaster

Genetics ◽  
2004 ◽  
Vol 167 (2) ◽  
pp. 815-826 ◽  
Author(s):  
Brian Charlesworth ◽  
Helen Borthwick ◽  
Carolina Bartolomé ◽  
Patricia Pignatelli
Keyword(s):  
Drosophila Melanogaster ◽  
Mutation Rate ◽  
Genomic Mutation

scholarly journals Deleterious genomic mutation rate for viability in Drosophila melanogaster using concomitant sibling controls

2005 ◽  
Vol 1 (4) ◽  
pp. 492-495 ◽  
Author(s):  
Yi Gong ◽  
R.C Woodruff ◽  
J.N Thompson
Keyword(s):  
Drosophila Melanogaster ◽  
Experimental Design ◽  
Mutation Rate ◽  
Biological Processes ◽  
Deleterious Mutations ◽  
Health And Fitness ◽  
Genomic Mutation

New deleterious mutations may reduce health and fitness and are involved in the evolution and maintenance of numerous biological processes. Hence, it is important to estimate the deleterious genomic mutation rate ( U ) in representative higher organisms. However, these estimated rates vary widely, mainly because of inadequate experimental controls. Here we describe an experimental design (the Binscy assay) with concomitant sibling controls and estimate U for viability in Drosophila melanogaster to be 0.31. This estimate, like most published studies, focuses on viability mutations and the overall deleterious genomic mutation rate would therefore be higher.

scholarly journals On the Rate and Linearity of Viability Declines in Drosophila Mutation-Accumulation Experiments: Genomic Mutation Rates and Synergistic Epistasis Revisited

Genetics ◽  
2004 ◽  
Vol 166 (2) ◽  
pp. 797-806 ◽  
Author(s):  
James D Fry
Keyword(s):  
Mutation Rate ◽  
Average Rate ◽  
Natural Populations ◽  
Mutation Accumulation ◽  
High Rate ◽  
Deleterious Mutations ◽  
Order Of Magnitude ◽  
Contamination Event ◽  
Genomic Mutation ◽  
The 1960S

Abstract High rates of deleterious mutations could severely reduce the fitness of populations, even endangering their persistence; these effects would be mitigated if mutations synergize each others’ effects. An experiment by Mukai in the 1960s gave evidence that in Drosophila melanogaster, viability-depressing mutations occur at the surprisingly high rate of around one per zygote and that the mutations interact synergistically. A later experiment by Ohnishi seemed to support the high mutation rate, but gave no evidence for synergistic epistasis. Both of these studies, however, were flawed by the lack of suitable controls for assessing viability declines of the mutation-accumulation (MA) lines. By comparing homozygous viability of the MA lines to simultaneously estimated heterozygous viability and using estimates of the dominance of mutations in the experiments, I estimate the viability declines relative to an appropriate control. This approach yields two unexpected conclusions. First, in Ohnishi’s experiment as well as in Mukai’s, MA lines showed faster-than-linear declines in viability, indicative of synergistic epistasis. Second, while Mukai’s estimate of the genomic mutation rate is supported, that from Ohnishi’s experiment is an order of magnitude lower. The different results of the experiments most likely resulted from differences in the starting genotypes; even within Mukai’s experiment, a subset of MA lines, which I argue probably resulted from a contamination event, showed much slower viability declines than did the majority of lines. Because different genotypes may show very different mutational behavior, only studies using many founding genotypes can determine the average rate and distribution of effects of mutations relevant to natural populations.

scholarly journals Linkage disequilibrium, mutational analysis and natural selection in the repetitive region of the clock gene, period, in Drosophila melanogaster

1997 ◽  
Vol 69 (2) ◽  
pp. 89-99 ◽  
Author(s):  
EZIO ROSATO ◽  
ALEXANDRE A. PEIXOTO ◽  
RODOLFO COSTA ◽  
CHARALAMBOS P. KYRIACOU
Keyword(s):  
Drosophila Melanogaster ◽  
Mutation Rate ◽  
Clock Gene ◽  
Mutational Analysis ◽  
Pedigree Analysis ◽  
Nucleotide Substitution Rate ◽  
Repetitive Region ◽  
Linkage Disequilibria ◽  
Direct Measurements ◽  
Polymerase Chain

We have used the method of disequilibrium pattern analysis to examine associations between the threonine-glycine (Thr-Gly) encoding repeat region of the clock gene period (per) of Drosophila melanogaster, and polymorphic sites both upstream and downstream of the repeat, in a number of European fly populations. The results are consistent with the view that selection may be operating on various haplotypes which share the Thr-Gly length alleles encoding 17, 20 and 23 dipeptide pairs, and that the repeat itself may be the focus for selection. These conclusions lend support to a number of other population and behavioural investigations which have provided evidence that selection is acting on the Thr-Gly region. The linkage analysis was also used to infer an approximate mutation rate (μ) for the repeat, of 10−5<μ<4×10−5 per gamete per generation. Direct measurements of the mutation rate using the polymerase chain reaction in a pedigree analysis of tens of thousands of individuals do not contradict this value. Consequently, the Thr-Gly repeat does not have a mutation rate that is as high as some of the non-coding minisatellites, but it is several orders of magnitude higher than the nucleotide substitution rate. The implications of this elevated mutation rate for linkage disequilibria and selection are discussed.

scholarly journals Estimation of microsatellite mutation rates in Drosophila melanogaster

2000 ◽  
Vol 76 (3) ◽  
pp. 323-326 ◽  
Author(s):  
JOSÉ FERNANDO VÁZQUEZ ◽  
TRINIDAD PÉREZ ◽  
JESÚS ALBORNOZ ◽  
ANA DOMÍNGUEZ
Keyword(s):  
Drosophila Melanogaster ◽  
Mutation Rate ◽  
Mutation Accumulation ◽  
Trinucleotide Repeats ◽  
Dinucleotide Repeat ◽  
The Other ◽  
Mutation Rates ◽  
Full Agreement ◽  
Single Addition ◽  
Microsatellite Mutation

Microsatellite mutations were studied in a set of 175 mutation accumulation lines, all of them independently derived from a completely homozygous population of Drosophila melanogaster and maintained under strong inbreeding during 80 generations. We assayed 28 microsatellites and detected two mutations. One mutation consisted of a single addition of a dinucleotide repeat and the other was a deletion of five trinucleotide repeats. The average mutation rate was 5·1 × 10−6, in full agreement with previous estimates from two different sets of mutation accumulation lines.

scholarly journals Rapid change in mutation rate in a local population of Drosophila melanogaster.

1985 ◽  
Vol 82 (22) ◽  
pp. 7671-7675 ◽  
Author(s):  
T. Mukai ◽  
M. Baba ◽  
M. Akiyama ◽  
N. Uowaki ◽  
S. Kusakabe ◽  
...  
Keyword(s):  
Drosophila Melanogaster ◽  
Mutation Rate ◽  
Local Population ◽  
Rapid Change

scholarly journals The Effect of Temperature on the Mutation Rate in Drosophila Melanogaster

1958 ◽  
Vol 11 (1) ◽  
pp. 85 ◽  
Author(s):  
BL Sheldon
Keyword(s):  
Drosophila Melanogaster ◽  
Mutation Rate ◽  
Shock Treatment ◽  
Effect Of Temperature ◽  
Adult Males ◽  
Heat Shock Treatment ◽  
Recessive Lethal ◽  
Lethal Mutations ◽  
Consistent Treatment ◽  
Large Response

The incidence of sex�linked recessive lethal mutations in Drosophila melano� gaster after heat shock treatment of both larvae and adult males is reported. There was no increase in the mutation rate after treatment of larvae and the results with adult males were not consistent. Treatment of the latter at 38�C caused an increase in mutation rate, due apparently to the large response of a few sensitive males. Treatment at 40�C caused no increase, and if one sensitive male was excluded, the mutation rate was significantly less than control. These results do not entirely support those of previous workers in the literature and possible reasons for this are discussed.

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