bluuebunny/crossref_metadata_2025_split huggingface dataset:
Escherichia coli mutator mutD5 is defective in the mutHLS pathway of DNA mismatch repair.
Authors: Schaaper R M 
Published: January 2021

Abstract
We have previously reported that the Escherichia coli mutator strain mutD5 was defective in the correction of bacteriophage M13mp2 heteroduplex DNA containing a T.G mismatch. Here, this defect was further investigated with regard to its interaction with the mutHLS pathway of mismatch repair. A set of 15 different M13mp2 heteroduplexes was used to measure the mismatch-repair capability of wild-type, mutL and mutD5 cells. Throughout the series, the mutD5 strain proved as deficient in mismatch repair as the mutL strain, indicating that the repair defect is similar in the two strains in both extent and specificity. [One exception was noted in the case a T.G mispair that was subject to VSP (Very Short Patch) repair. VSP repair was abolished by mutL but not by mutD.] Variation in the dam-methylation state of the heteroduplex molecules clearly affected repair in the wild-type strain but had no effect on either the mutD or mutL strain. Finally, mutDmutL or mutDmutS double-mutator strains were no more deficient in mismatch repair as were the single mutator strains. The combined results strongly argue that the mismatch-repair deficiency of mutD5 cells resides in the mutH,L,S-dependent pathway of mismatch repair and that the high mutation rate of mutD strains derives in part from this defect.
Mechanisms of mutagenesis by chloroacetaldehyde.
Authors: Jacobsen J S , Perkins C P , Callahan J T , Sambamurti K , Humayun M Z 
Published: January 2021

Abstract
A number of bifunctional chemical mutagens induce exocyclic DNA lesions. For example, 2-chloroacetaldehyde (CAA), a metabolite of vinyl chloride, readily reacts with single-stranded DNA to predominantly form etheno lesions. Here, we report on in vivo mutagenesis caused by CAA treatment of DNA in vitro. These experiments used partially duplex phage M13AB28 replicative form DNA in which a part of the lacZ gene sequence was held in single-stranded form to direct reaction with CAA. CAA-treated partial duplex DNA was transfected into Escherichia coli, and the induced base changes were defined by DNA sequencing. These experiments suggested that CAA treatment induced mutations at cytosines, much less efficiently at adenines, but not at guanines or thymines. Among mutations targeted to cytosine, 80% were C-to-T transitions and 20% were C-to-A transversions. Application of a post-labeling method detected dose-dependent formation of ethenoadenine and ethenocytosine in CAA treated DNA. These data indicate that ethenocytosine is a highly efficient mutagen with properties suggestive of a non-instructional DNA lesion in vivo. Paradoxically, ethenoadenines are efficiently bypassed by a mechanism which appears to be largely nonmutagenic.
Meiosis in Mesostoma ehrenbergii ehrenbergii. IV. Recombination nodules in spermatocytes and a test of the correspondence of late recombination nodules and chiasmata.
Authors: Croft J A , Jones G H 
Published: January 2021

Abstract
Male meiosis in Mesostoma ehrenbergii ehrenbergii (2x = 10) is characterized by extreme restriction of chiasma formation; 3 pairs of chromosomes form bivalents at metaphase I which are associated by single very distally localized chiasma, while two pairs of chromosomes remain as unpaired univalents. Electron microscopical three-dimensional reconstruction analysis of serial sections has been applied to 20 pachytene spermatocyte nuclei. In each nucleus three short stretches of synaptonemal complex (SC) were found, confined to a localized branched lobe of the nucleus, confirming the findings of an earlier study. The majority of reconstructed nuclei show that each of the three SC segments has a single prominent recombination nodule ("late" RN) associated with it. Late RNs in this system therefore show an excellent correspondence with metaphase I chiasmata, in contrast to a previous report. M.e. ehrenbergii is therefore not an exception to the hypothesis that meiotic exchange requires a functional late RN. A few nuclei had two, one or no RNs; these presumably represent nuclei that are not at the stage of maximum RN presence. Although M. e. ehrenbergii shows pronounced chiasma localization at the light microscope level, at the ultrastructural level RNs are widely distributed along the 5-10 microns of SC formed in each bivalent, indicating that genetic exchange are not restricted to particular localized sites but occur at a large number of DNA sequence.
The ash-1, ash-2 and trithorax genes of Drosophila melanogaster are functionally related.
Authors: Shearn A 
Published: January 2021

Abstract
Mutations in the ash-1 and ash-2 genes of Drosophila melanogaster cause a wide variety of homeotic transformations that are similar to the transformations caused by mutations in the trithorax gene. Based on this similar variety of transformations, it was hypothesized that these genes are members of a functionally related set. Three genetic tests were employed here to evaluate that hypothesis. The first test was to examine interactions of ash-1, ash-2 and trithorax mutations with each other. Double and triple heterozygotes of recessive lethal alleles express characteristic homeotic transformations. For example, double heterozygotes of a null allele of ash-1 and a deletion of trithorax have partial transformations of their first and third legs to second legs and of their halteres to wings. The penetrance of these transformations is reduced by a duplication of the bithorax complex. The second test was to examine interactions with a mutation in the female sterile (1) homeotic gene. The penetrance of the homeotic phenotype in progeny from mutant mothers is increased by heterozygosis for alleles of ash-1 or ash-2 as well as for trithorax alleles. The third test was to examine the interaction with a mutation of the Polycomb gene. The extra sex combs phenotype caused by heterozygosis for a deletion of Polycomb is suppressed by heterozygosis for ash-1, ash-2 or trithorax alleles. The fact that mutations in each of the three genes gave rise to similar results in all three tests represents substantial evidence that ash-1, ash-2 and trithorax are members of a functionally related set of genes.
Patterns of variation in the rDNA cistron within and among world populations of a mosquito, Aedes albopictus (Skuse).
Authors: Black W C , McLain D K , Rai K S 
Published: January 2021

Abstract
A restriction map was constructed of the ribosomal cistron in a mosquito, Aedes albopictus (Skuse). The 18s, 28s and nontranscribed spacer (NTS) regions were subcloned and used to probe for intraspecific variation. Seventeen populations were examined throughout the world range of the species. No variation was detected in the coding regions but extensive and continuous variation existed in the NTS. The NTS consisted of two nonhomologous regions. The first region contained multiple 190-bp AluI repeats nested within larger XhoI repeats of various sizes. There was a large number of length variants in the AluI repeat region of the NTS. No repeats were found in the second region and it gave rise to relatively fewer variants. An analysis of NTS diversity in individual mosquitoes indicated that most of the diversity arose at the population level. Discriminant analysis was performed on spacer types in individual mosquitoes and demonstrated that individuals within a population carried a unique set of spacers. In contrast with studies of the NTS in Drosophila populations, there seems to be little conservation of spacers in a population. The importance of molecular drive relative to drift and selection in the generation of local population differentiation is discussed.
Molecular population genetics of mtDNA size variation in crickets.
Authors: Rand D M , Harrison R G 
Published: January 2021

Abstract
Nucleotide sequence analysis of a region of cricket (Gryllus firmus) mtDNA showing discrete length variation revealed tandemly repeated sequences 220 base pairs (bp) in length. The repeats consist of 206 bp sequences bounded by the dyad symmetric sequence 5'GGGGGCATGCCCCC3'. The sequence data showed that mtDNA size variation in this species is due to variation in the number of copies of tandem repeats. Southern blot analysis was used to document the frequency of crickets heteroplasmic for two or more different-sized mtDNAs. In New England populations of G. firmus and a close relative Gryllus pennsylvanicus approximately 60% of the former and 45% of the latter were heteroplasmic. From densitometry of autoradiographs the frequencies of mtDNA size classes were determined for the population samples and are shown to very different in the two species. However, in populations where hybridization between the two species has occurred, the frequencies of size classes and cytoplasmic genotypes in each species' distinct mtDNA lineage were shifted in a manner suggesting nuclear-cytoplasmic interactions. The data were applied to reported diversity indices and hierarchical statistics. The hierarchical statistics indicated that the greatest proportion of variation for mtDNA size was due to variation among individuals in their cytoplasmic genotypes (heteroplasmic or homoplasmic state). The diversity indices were used to estimate a per-generation mutation rate for size variants of 10(-4). The data are discussed in light of the relationship between genetic drift and mutation in maintaining variation for mtDNA size.
Transposition of the Responder element (Rsp) of the Segregation distorter system (SD) to the X chromosome in Drosophila melanogaster.
Authors: Walker E S , Lyttle T W , Lucchesi J C 
Published: January 2021

Abstract
In order to test whether the meiotic drive system Segregation distorter (SD) can operate on the X chromosome to exclude it from functional sperm, we have transposed the Responder locus (Rsp) to this element. This was accomplished by inducing detachments of a compound-X chromosome in females carrying a Y chromosome bearing a Rsps allele. Six Responder-sensitive-bearing X chromosomes, with kappa values ranging from 0.90 to 1.00, were established as permanent lines. Two of these have been characterized more extensively with respect to various parameters affecting meiotic drive. SD males with a Responder-sensitive X chromosome produce almost exclusively male embryos, while those with a Rsp-Y chromosome produce almost exclusively female embryos. This provides a genetic system of great potential utility for the study of early sex-specific differentiation events as it allows the collection of large numbers of embryos of a given sex.
The PET54 gene of Saccharomyces cerevisiae: characterization of a nuclear gene encoding a mitochondrial translational activator and subcellular localization of its product.
Authors: Costanzo M C , Seaver E C , Fox T D 
Published: January 2021

Abstract
The product of the nuclear Saccharomyces cerevisiae gene PET54 is specifically required, along with at least two other nuclear gene products, for translation of the mitochondrial mRNA encoding subunit III of cytochrome c oxidase (coxIII). We have genetically mapped PET54 (to the right arm of chromosome VII, 4.8 cM centromere-distal to SUF15), and have biochemically characterized the gene and its product. We determined the nucleotide sequence of a 1.6-kb DNA fragment carrying PET54 and identified the PET54 reading frame by determining the sequence of an ochre mutant allele as well as frameshift and frameshift-revertant alleles of the gene. The wild-type PET54 gene encodes a slightly basic 293-amino acid protein. PET54 is expressed from two mRNAs, both with unusual features: a major transcript with an extremely short 5'-untranslated leader, and a minor transcript with a relatively long 5'-leader carrying three short open reading frames. Antiserum raised against a trpE-PET54 fusion protein was used to probe subcellular fractions. These experiments showed that the PET54 protein is specifically associated with mitochondria, suggesting that it is likely to act directly in coxIII translation.
A tripartite interaction among alleles of Notch, Delta, and Enhancer of split during imaginal development of Drosophila melanogaster.
Authors: Shepard S B , Broverman S A , Muskavitch M A 
Published: January 2021

Abstract
A dramatic example of a phenotypic interaction that involves neurogenic loci during Drosophila imaginal development is the synergistic impact of split (spl), a recessive allele of the Notch locus, and E(spl)D, a dominant gain-of-function allele of the Enhancer of split locus, on morphogenesis of the compound eye. Screens for mutations that relieve the enhancing effect of E(spl)D on spl have yielded three classes of mutations: intragenic revertants of the E(spl)D allele, extragenic suppressors that are allelic to the neurogenic gene Delta (Dl) and unlinked extragenic modifiers. Analysis of the suppression of the spl-E(spl)D interaction by various Dl alleles indicates that this modification is sensitive to the dosage of the Dl locus. This tripartite interaction illustrates the combinatorial action of N, Dl and E(spl) during imaginal development.
Pleiotropic stabilizing selection limits the number of polymorphic loci to at most the number of characters.
Authors: Hastings A , Hom C L 
Published: January 2021

Abstract
We demonstrate that, in a model incorporating weak Gaussian stabilizing selection on n additively determined characters, at most n loci are polymorphic at a stable equilibrium. The number of characters is defined to be the number of independent components in the Gaussian selection scheme. We also assume linkage equilibrium, and that either the number of loci is large enough that the phenotypic distribution in the population can be approximated as multivariate Gaussian or that selection is weak enough that the mean fitness of the population can be approximated using only the mean and the variance of the characters in the population. Our results appear to rule out antagonistic pleiotropy without epistasis as a major force in maintaining additive genetic variation in a uniform environment. However, they are consistent with the maintenance of variability by genotype-environment interaction if a trait in different environments corresponds to different characters and the number of different environments exceeds the number of polymorphic loci that affect the trait.
The genetics of catalase in Drosophila melanogaster: isolation and characterization of acatalasemic mutants.
Authors: Mackay W J , Bewley G C 
Published: January 2021

Abstract
Activated oxygen species have been demonstrated to be the important agents in oxygen toxicity by disrupting the structural and functional integrity of cells through lipid peroxidation events, DNA damage and protein inactivation. The biological consequences of free radical damage have long been hypothesized to be a causal agent in many aging-related diseases. Catalase (H2O2:H2O2 oxidoreductase; EC 1.15.1.1) is one of several enzymes involved in the scavenging of oxygen free radicals and free radical derivatives. The structural gene for catalase in Drosophila melanogaster has been localized to region 75D1-76A on chromosome 3L by dosage responses to segmental aneuploidy. This study reports the isolation of a stable deficiency, Df(3L)CatDH104(75C1-2;75F1), that uncovers the catalase locus and the subsequent isolation of six acatalasemic mutants. All catalase mutants are viable under standard culture conditions and recessive lethal mutations within the 75Cl-F1 interval have been shown not to affect catalase activity. Two catalase mutations are amorphic while four are hypomorphic alleles of the Cat+ locus. The lack of intergenic complementation between the six catalase mutations strongly suggests that there is only one functional gene in Drosophila. One acatalesemic mutation was mapped to position 3-47.0 which resides within the catalase dosage sensitive region. While complete loss of catalase activity confers a severe viability effect, residual levels are sufficient to restore viability to wild type levels. These results suggest a threshold effect for viability and offer an explanation for the general lack of phenotypic effects associated with the known mammalian acatalasemics.
Induction of mitochondrial DNA heteroplasmy by intra- and interspecific transplantation of germ plasm in Drosophila.
Authors: Matsuura E T , Chigusa S I , Niki Y 
Published: January 2021

Abstract
A new experimental system for inducing mitochondrial DNA heteroplasmy in Drosophila was developed. By transplanting the germ plasm of Drosophila melanogaster and Drosophila mauritiana into the posterior pole of the recipient eggs of D. melanogaster, it was possible to introduce foreign mitochondria into the recipient female germline. Heteroplasmic individuals containing both donor and recipient mtDNA were obtained in intra- and interspecific combinations at similar frequencies. The proportion of donor-derived mtDNA in the heteroplasmic individuals varied considerably from individual to individual irrespective of the donor species used. No significant decrease in or elimination of donor mtDNA was observed, and the heteroplasmic state in female germlines persisted for several generations. The present system should serve very much to promote the study and clarification of the transmission genetics of mtDNA in insects.
Does postzygotic isolation result from improper dosage compensation?
Authors: Orr H A 
Published: January 2021

Abstract
The X chromosome invariably has the largest effect on postzygotic isolation between animal species. One explanation of this pattern is that inviability and sterility result from a breakdown in the dosage compensation of X-linked genes in hybrids. In Drosophila, such breakdown could result from divergence of the genes used to assess the X/autosomal (X/A) ratio, and thus the sex, of an individual. I test this hypothesis by introducing mutant alleles of the Sex-lethal locus into Drosophila melanogaster-Drosophila simulans hybrids. These mutants "ignore" any perceived anomalous X/A ratio and thus can be used to ensure proper dosage compensation in hybrids. These mutants do not rescue hybrid viability or fertility, implying that postzygotic isolation in this hybridization does not result from a disruption of dosage compensation caused by divergence of the X/A counting system.
Apparent negative interference due to variation in recombination frequencies.
Authors: Säll T , Bengtsson B O 
Published: January 2021

Abstract
Variation in recombination frequencies may lead to a bias in the estimated interference value in a linkage experiment. Depending on the pattern of variation, the bias may be toward negative interference or toward positive interference, even when there is positive interference at the cytological level. In this paper we have mainly concentrated on the case of negative interference. We use models to quantify this effect when data are derived from a backcross experiment or from the selfing of F1 individuals. The effect is quantitatively similar in the two cases. There is an upper limit to the size the bias may reach for every given level of recombination. Two reported cases of negative interference in Drosophila and cultivated barley fall within this possible parameter range, i.e., the observed negative interference values could--at least in principle--be due solely to a variation in the recombination frequencies in the experiments.
The multivulva phenotype of certain Caenorhabditis elegans mutants results from defects in two functionally redundant pathways.
Authors: Ferguson E L , Horvitz H R 
Published: January 2021

Abstract
We previously identified Caenorhabditis elegans mutants in which certain of the six vulval precursor cells adopt fates normally expressed by other vulval precursor cells. These mutants define genes that appear to function in the response to an intercellular signal that induces vulval development. The multivulva (Muv) phenotype of one such mutant, CB1322, results from an interaction between two unlinked mutations, lin-8(n111) II and lin-9(n112) III. In this paper, we identify 18 new mutations, which are alleles of eight genes, that interact with either lin-8(n111) or lin-9(n112) to generate a Muv phenotype. None of these 20 mutations alone causes any vulval cell lineage defects. The "silent Muv" mutations fall into two classes; hermaphrodites carrying a mutation of each class are Muv, while hermaphrodites carrying two mutations of the same class have a wild-type vulval phenotype. Our results indicate that the Muv phenotype of these mutants results from defects in two functionally-redundant pathways, thereby demonstrating that redundancy can occur at the level of gene pathways as well as at the level of gene families.
Causes and consequences of variation in energy storage in Drosophila melanogaster.
Authors: Clark A G 
Published: January 2021

Abstract
Variation in energy storage pools has a proximate cause variation in rates of influx and efflux from the pools, and it may, as an ultimate consequence, result in variation in fitness. The possibility of this chain of causal links motivates attempts to quantify the genetic correlations among pool sizes, enzyme activities and fitness components. In this report, homogenates from 83 second chromosome replacement lines of Drosophila melanogaster were analyzed to determine the amounts of stored triacylglycerols and glycogen as well as the activities of 11 enzymes in relevant metabolic pathways. The viabilities and fecundities of these same lines were determined by a segregation test using the SM5 balancer chromosome. Analysis of covariance revealed significant differences among lines in quantities of stored triacylglycerols and glycogen, as well as in activities of the assayed enzymes. Significant broad-sense genetic correlations were detected for a number of enzyme pairs. Some of the traits showed a significant correlation with viability and fecundity, including lipid and glycogen storage. Multiple regression models that fitted fitness components to linear and quadratic functions of the biochemical traits yielded highly significant fits. The partial regression coefficients indicate the shape of the selection gradient, and instances of significant directional and stabilizing selection were detected.
Potential germline competition in animals and its evolutionary implications.
Authors: Hastings I M 
Published: January 2021

Abstract
Mutation, mitotic crossing over and mitotic gene conversion can create genetic diversity in otherwise uniform diploid cell lineages. In the germline this diversification may result in competition between diploid germline phenotypes, with subsequent biases in the frequency of alleles transmitted to the offspring. Sperm competition is a well documented feature of many higher organisms and a model is developed to quantify this process. Competition, and hence selection, can also occur by differential survival of diploid lineages before meiosis. It is concluded that under certain circumstances germline selection is an efficient means of eliminating unfavorable alleles from the population. This does not require differences in adult fertility or viability which is the usual mechanism cited as causing changes in gene frequency in a population. It is proposed that such competition may play a role in maintaining the efficiency of basic metabolic pathways.