scholarly journals Extensive hidden genetic variation shapes the structure of functional elements in Drosophila

2017 ◽  
Author(s):  
Mahul Chakraborty ◽  
Roy Zhao ◽  
Xinwen Zhang ◽  
Shannon Kalsow ◽  
J.J. Emerson

AbstractMutations that add, subtract, rearrange, or otherwise refashion genome structure often affect phenotypes, though the fragmented nature of most contemporary assemblies obscure them. To discover such mutations, we assembled the first reference quality genome of Drosophila melanogaster since its initial sequencing. By comparing this genome to the existing D. melanogaster assembly, we create a structural variant map of unprecedented resolution, revealing extensive genetic variation that has remained hidden until now. Many of these variants constitute strong candidates underlying phenotypic variation, including tandem duplications and a transposable element insertion that dramatically amplifies the expression of detoxification genes associated with nicotine resistance. The abundance of important genetic variation that still evades discovery highlights how crucial high quality references are to deciphering phenotypes.




2017 ◽  
Vol 9 (5) ◽  
pp. 1329-1340 ◽  
Author(s):  
Jeffrey R. Adrion ◽  
Michael J. Song ◽  
Daniel R. Schrider ◽  
Matthew W. Hahn ◽  
Sarah Schaack


Genetics ◽  
1978 ◽  
Vol 89 (2) ◽  
pp. 355-370 ◽  
Author(s):  
Allen Shearn ◽  
Grafton Hersperger ◽  
Evelyn Hersperger ◽  
Ellen Steward Pentz ◽  
Paul Denker

ABSTRACT The phenotypes of five different lethal mutants of Drosophila melanogaster that have small imaginal discs were analyzed in detail. From these results, we inferred whether or not the observed imaginal disc phenotype resulted exclusively from a primary imaginal disc defect in each mutant. To examine the validity of these inferences, we employed a multiple-allele method. Lethal alleles of the five third-chromosome mutations were identified by screening EMS-treated chromosomes for those which fail to complement with a chromosome containing all five reference mutations. Twenty-four mutants were isolated from 13,197 treated chromosomes. Each of the 24 was then tested for complementation with each of the five reference mutants. There was no significant difference in the mutation frequencies at these five loci. The stage of lethality and the imaginal disc morphology of each mutant allele were compared to those of its reference allele in order to examine the range of defects to be found among lethal alleles of each locus. In addition, hybrids of the alleles were examined for intracistronic complementation. For two of the five loci, we detected no significant phenotypic variation among lethal alleles. We infer that each of the mutant alleles at these two loci cause expression of the null activity phenotype. However, for the three other loci, we did detect significant phenotypic variation among lethal alleles. In fact, one of the mutant alleles at each of these three loci causes no detectable imaginal disc defect. This demonstrates that attempting to assess the developmental role of a gene by studying a single mutant allele may lead to erroneous conclusions. As a byproduct of the mutagenesis procedure, we have isolated two dominant, cold-sensitive mutants.



Genetics ◽  
1998 ◽  
Vol 149 (3) ◽  
pp. 1487-1493 ◽  
Author(s):  
Andrew G Clark ◽  
David J Begun

Abstract Differential success of sperm is likely to be an important component of fitness. Extensive variation among male genotypes in competitive success of sperm in multiply mated females has been documented for Drosophila melanogaster. However, virtually all previous studies considered the female to be a passive vessel. Nevertheless, under certain conditions female fitness could be determined by her role in mediating use of sperm from multiple males. Here we ask whether females differ among genotypes in their tendency to exhibit last-male precedence. Competition of sperm from two tester male genotypes (bwD and B3-09, a third-chromosome isogenic line from Beltsville, MD) was quantified by doubly mating female lines that had been rendered homozygous for X, second, or third chromosomes isolated from natural populations. The composite sperm displacement parameter, P2′, was highly heterogeneous among lines, whether or not viability effects were compensated, implying the presence of polymorphic genes affecting access of sperm to eggs. Genetic variation of this type is completely neutral in the absence of pleiotropy or interaction between variation in the two sexes.



Genetics ◽  
1993 ◽  
Vol 135 (4) ◽  
pp. 1063-1076 ◽  
Author(s):  
D Smith ◽  
J Wohlgemuth ◽  
B R Calvi ◽  
I Franklin ◽  
W M Gelbart

Abstract P element enhancer trapping has become an indispensable tool in the analysis of the Drosophila melanogaster genome. However, there is great variation in the mutability of loci by these elements such that some loci are relatively refractory to insertion. We have developed the hobo transposable element for use in enhancer trapping and we describe the results of a hobo enhancer trap screen. In addition, we present evidence that a hobo enhancer trap element has a pattern of insertion into the genome that is different from the distribution of P elements in the available database. Hence, hobo insertion may facilitate access to genes resistant to P element insertion.







1984 ◽  
Vol 43 (3) ◽  
pp. 307-321 ◽  
Author(s):  
Billy W. Geer ◽  
Cathy C. Laurie-Ahlberg

SUMMARYGenetic variation in the modulating effect of dietary sucrose was assessed in Drosophila melanogaster by examining 27 chromosome substitution lines coisogenic for the X and second chromosomes and possessing different third isogenic chromosomes derived from natural populations. An increase in the concentration of sucrose from 0·1% to 5% in modified Sang's medium C significantly altered the activities of 11 of 15 enzyme activities in third instar larvae, indicating that dietary sucrose modulates many, but not all, of the enzymes of D. melanogaster. A high sucrose diet promoted high activities of enzymes associated with lipid and glycogen synthesis and low activities of enzymes of the glycolytic and Krebs cycle pathways, reflecting the physiological requirements of the animal. Analyses of variance revealed significant genetic variation in the degrees to which sucrose modulated several enzyme activities. Analysis of correlations revealed some relationships between enzymes in the genetic effects on the modulation process. These observations suggest that adaptive evolutionary change may depend in part on the selection of enzyme activity modifiers that are distributed throughout the genome.



Parasitology ◽  
2006 ◽  
Vol 132 (6) ◽  
pp. 767-773 ◽  
Author(s):  
M. C. TINSLEY ◽  
S. BLANFORD ◽  
F. M. JIGGINS

Genetic variation in susceptibility to pathogens is a central concern both to evolutionary and medical biologists, and for the implementation of biological control programmes. We have investigated the extent of such variation in Drosophila melanogaster, a major model organism for immunological research. We found that within populations, different Drosophila genotypes show wide-ranging variation in their ability to survive infection with the entomopathogenic fungus Beauveria bassiana. Furthermore, striking divergence in susceptibility has occurred between genotypes from temperate and tropical African locations. We hypothesize that this may have been driven by adaptation to local differences in pathogen exposure or host ecology. Genetic variation within populations may be maintained by temporal or spatial variation in the costs and benefits of pathogen defence. Insect pathogens are employed widely as biological control agents and entomopathogenic fungi are currently being developed for reducing malaria transmission by mosquitoes. Our data highlight the need for concern about resistance evolution to these novel biopesticides in vector populations.



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