bluuebunny/crossref_metadata_2025 huggingface dataset:
THE MOLECULAR THROUGH ECOLOGICAL GENETICS OF ABNORMAL ABDOMEN. III. TISSUE-SPECIFIC DIFFERENTIAL REPLICATION OF RIBOSOMAL GENES MODULATES THE ABNORMAL ABDOMEN PHENOTYPE IN DROSOPHILA MERCATORUM
Authors: DeSalle Rob , Templeton Alan R
Published: January 2021

The abnormal abdomen (aa) syndrome in Drosophila mercatorum is controlled by two major X-linked genetic elements. We have previously shown that the major X-linked element of aa is associated with the presence of large inserts in the 28S gene of the ribosomal RNA (rDNA) genes. We show that, in polytene tissue of wild-type D. mercatorum, the uninterrupted rDNA repeats are overreplicated relative to interrupted repeats. Uninterrupted rDNA repeats are also overreplicated in polytene tissue of hybrid larval offspring from wild-type and aa parents. This overreplication of uninterrupted repeats is not observed in diploid tissues of wild-type hybrids (of wild-type and aa parents) and homozygous aa larvae or in polytene tissue of aa larvae. Furthermore, molecular analysis of an aa line that has reverted to the wild type indicates that the reversion phenomenon is associated with the ability to overreplicate uninterrupted rDNA repeats in polytene tissues. The patterns of differential replication of rDNA genes in wild-type hybrids and aa larvae of D. mercatorum offer a possible mechanism for the tissue-specific control of the aa phenotype and suggest that the molecular basis for the second X-linked genetic element of aa is involved in the control of differential replication in polytene tissues.
A NUMERICAL SIMULATION OF THE ONE-LOCUS, MULTIPLE-ALLELE FERTILITY MODEL
Authors: Clark Andrew G , Feldman Marcus W
Published: January 2021

Numerical simulations were performed to determine the equilibrium behavior of the one-locus fertility model in which fitness is considered as a property of a pair of mating diploids. A series of patterns of "fertility matrices" were considered for a single locus with two to six alleles. From these simulations, 19 different statistics were collected that characterize, at equilibrium, the heterozygosity, the mean fitness and the fate of populations begun at the allele-frequency centroid. For more than one-half of the trajectories produced by random fertility matrices, there was a decrease in the mean fitness at some time on the way to equilibrium. The mean number of alleles maintained at equilibrium increased only slightly with matrix dimension. Despite the potential for fertility models to display multiple stable equilibria, random fertility models maintain fewer distinct stable points than do random one-locus viability models. Pleiotropic models were also considered with fertility and viability selection operating sequentially within each generation. Most of the equilibrium statistics (with the exception of mean fertility) for the pleiotropic model were intermediate between the corresponding random viability and fertility models.
SEQUENCING STUDIES OF ICR-170 MUTAGENIC SPECIFICITY IN THE am (NADP-SPECIFIC GLUTAMATE DEHYDROGENASE) GENE OF NEUROSPORA CRASSA
Authors: Burns Philip A , Kinnaird Jane H , Kilbey Brian J , Fincham John R S
Published: January 2021

The acridine half-mustard ICR-170-induced reversion of the mutant am15, which has a single base-pair deletion, at a frequency of between 9 and 28 × 10-6. In each of three classes of revertants, the mutagen had induced the insertion of a (see PDF) base pair at a (see PDF) site. The mutant am6, which has a single base pair insertion, is known to be revertible, with UV light, by deletion of a (see PDF) base pair at a (see PDF) site. This mutant reverted with ICR-170 at a frequency of 0.1 × 10-6. These results show that ICR-170 is able to induce addition frameshifts in Neurospora crassa within short, monotonous runs of G:C base pairs, but indicate a lack of deletion activity at such sequences.
RECOVERY AND CHARACTERIZATION OF TEMPERATURE-SENSITIVE MUTATIONS AFFECTING ADULT VIABILITY IN DROSOPHILA MELANOGASTER
Authors: Homyk Theodore , Sinclair Donald A R , Wong David T L , Grigliatti Thomas A
Published: January 2021

Temperature-sensitive (ts) autonomous cell-lethal mutations have been used extensively to study important developmental phenomena, such as pattern formation, in Drosophila. Their utility would be enhanced considerably if it were possible to establish which cell type is primarily affected by each lesion. To facilitate such an approach we have isolated and characterized 21 EMS- induced X-linked adult-lethal (adl) mutants, 16 of which are ts. Most of these lesions also elicit ts lethal effects during preimaginal development. They represent 19 different loci distributed randomly along the X chromosome. The general properties of these mutations are described. In addition, results of an in-depth analysis (focus mapping and, in some cases, temperature shift and heat-pulse studies) of four strains, adl-1ts  1, sesE, adl-2ts  1 and rex are reported. Two major temperature-sensitive periods (TSPs) of adl-1 lethality were resolved: one during the second half of embryogenesis and the other coinciding with pupariation. Mosaic analysis revealed separate mesodermal foci for leg paralysis. Developmental analysis of adl-1 embryos suggest that the adl-1 product may be required for maintenance of muscle tissue. Two discrete TSPs of sesE lethality exist: one during the second instar and the other extending from late third instar to early pupation. Mosaic analysis of sesE lethality resolved a pair of neural foci, each of which appears to incorporate three separate foci for leg paralysis. Mosaic analysis of adl-2ts  1 revealed the existence of paired lethal foci that appear to map to the vicinity of the subesophageal ganglion. Analysis of rex mosaics resolved separate mesodermal foci for leg paralysis.
SOUTHERN ANALYSIS OF GENOMIC ALTERATIONS IN GAMMA-RAY-INDUCED APRT- HAMSTER CELL MUTANTS
Authors: Grosovsky Andrew J , Drobetsky Elliot A , deJong Pieter J , Glickman Barry W
Published: January 2021

The role of genomic alterations in mutagenesis induced by ionizing radiation has been the subject of considerable speculation. By Southern blotting analysis we show here that 9 of 55 (approximately 1/6) gamma-ray-induced mutants at the adenine phosphoribosyl transferase (aprt) locus of Chinese hamster ovary (CHO) cells have a detectable genomic rearrangement. These fall into two classes: intragenic deletions and chromosomal rearrangements. In contrast, no major genomic alterations were detected among 67 spontaneous mutants, although two restriction site loss events were observed. Three gamma-ray-induced mutants were found to be intragenic deletions; all may have identical break-points. The remaining six gamma-ray-induced mutants demonstrating a genomic alteration appear to be the result of chromosomal rearrangements, possibly translocation or inversion events. None of the remaining gamma-ray-induced mutants showed any observable alteration in blotting pattern indicating a substantial role for point mutation in gamma-ray-induced mutagenesis at the aprt locus.
IN VIVO FUNCTION OF RARE G6pd VARIANTS FROM NATURAL POPULATIONS OF DROSOPHILA MELANOGASTER
Authors: Eanes Walter F , Hey Jody
Published: January 2021

From 1981 to 1983, 15,097 X-chromosomes were genetically extracted from a number of North American populations of D. melanogaster and were electrophoretically screened for rare mobility and activity variants of glucose-6-phosphate dehydrogenase (G6PD). Overall, 13 rare variants were recovered for a frequency of about 10-3. Eleven variants affect electrophoretic mobility and are apparently structural, and two variants exhibit low G6PD activity. One low activity variant is closely associated with a P-element insertion at 18D12-13—all of the variants were subjected to the previously described genetic scheme used to identify relative in vivo activity differences between the two common electrophoretic variants associated with the global polymorphism. Most of the rare variants exhibit apparent in vivo activities that are similar to one or the other of the common variants, and these specific rare variants appear to be geographically widespread. Several variants have significantly reduced function. All of the variants were measured for larval specific activity for G6PD as a first measure of in vitro activity. It appears that specific activity alone is not a sufficient predictor for G6PD in vivo function.
X-LINKED FEMALE-STERILE LOCI IN DROSOPHILA MELANOGASTER
Authors: Perrimon Norbert , Mohler Dawson , Engstrom Lee , Mahowald A P
Published: January 2021

We have examined the number of X-linked loci specifically required only during oogenesis. Complementation analyses among female-sterile (fs) mutations obtained in two mutagenesis screens—Gans' and Mohler's—indicate that any fs locus represented by two or more mutant alleles in Gans' collection are usually present in Mohler's collection. However, when a locus is represented by a single allele in one collection, it is generally not present in the other collection. We propose that this discrepancy is due to the fact that most "fs loci" represented by less than two mutant alleles are, in fact, vital (zygotic lethal) genes, and that the fs alleles are hypomorphic mutations of such genes. In support of this hypothesis we have identified lethal alleles at 12 of these "fs loci." The present analysis has possibly identified all maternal-effect lethal loci detectable by mutations on the X chromosome and has allowed us to reevaluate the number of "ovary-specific fs" loci in the Drosophila genome. Finally, germline clone analysis of a large number of fs mutations was performed in order to estimate the relative contribution of germline and somatic cell derivatives to oogenesis and to embryonic development. All the maternal-effect lethal loci tested are germline-dependent.
GENETICS OF GLUCOCORTICOID RECEPTOR LEVELS IN RECOMBINANT INBRED LINES OF MICE
Authors: Liu Sharon L , Erickson Robert P
Published: January 2021

Hepatic glucocorticoid receptor binding activity was measured in A/J, C57BL/6J, their F1 reciprocal crosses and their F1 recombinant inbred (RI) lines. The glucocorticoid binding capacity was measured in Hepes buffer and Hepes buffer plus dithiothreitol (DTT). The A/J parental strain showed higher levels, and a greater increase of glucocorticoid binding in the presence of DTT, than did the C57BL/6J strain. The response of binding in the presence of DTT to that without DTT was expressed as a ratio. The levels and distribution of these measurements among the RI lines and F1 reciprocal crosses suggested that there was a maternal effect on glucocorticoid receptor binding capacity. The data on RI lines suggested epistatic interactions, but could fit a two-gene model. β2-Microglobulin, β-glucuronidase and H-2 (located on chromosomes 2, 5, and 17, respectively) were chosen to analyze any association to glucocorticoid receptor binding, because they have been considered to be related to glucocorticoid-induced cleft palate or glucocorticoid receptors. No significant associations were found.
THE QUESTION OF THE TOTAL GENE NUMBER IN DROSOPHILA MELANOGASTER
Authors: Lefevre George , Watkins William
Published: January 2021

A statistical analysis has been carried out on the distribution and allelism of nearly 500 sex-linked, X-ray-induced, cytologically normal and rearranged lethal mutations in Drosophila melanogaster that were obtained by G. Lefevre. The mutations were induced in four different regions of the X chromosome: (1) 1A1-3E8, (2) 6D1-8A5, (3) 9E1-11A7 and (4) 19A1-20F4, which together comprise more than one-third of the entire chromosome.—The analysis shows that the number of alleles found at different loci does not fit a Poisson distribution, even when the proper procedures are taken to accomodate the truncated nature of the data. However, the allele distribution fits a truncated negative binomial distribution quite well, with cytologically normal mutations fitting better than rearrangement mutations. This indicates that genes are not equimutable, as required for the data to fit a Poisson distribution.—Using the negative binomial parameters to estimate the number of genes that did not produce a detectable lethal mutation in our experiment (n0) gave a larger number than that derived from the use of the Poisson parameter. Unfortunately, we cannot estimate the total numbers of nonvital loci, loci with undetectable phenotypes and loci having extremely low mutabilities. In any event, our estimate of the total vital gene number was far short of the total number of bands in the analyzed regions; yet, in several short intervals, we have found more vital genes than bands; in other intervals, fewer. We conclude that the one-band, one-gene hypothesis, in its literal sense, is not true; furthermore, it is difficult to support, even approximately.—The question of the total gene number in Drosophila will, not doubt, eventually be solved by molecular analyses, not by statistical analysis of mutation data or saturation studies.
TEMPORAL VARIATION FOR THE EXPRESSION OF CATALASE IN DROSOPHILA MELANOGASTER: CORRELATIONS BETWEEN RATES OF ENZYME SYNTHESIS AND LEVELS OF TRANSLATABLE CATALASE-MESSENGER RNA
Authors: Bewley Glenn C , Mackay William J , Cook Julia L
Published: January 2021

Two variants that alter the temporal expression of catalase have been isolated from a set of third chromosome substitution lines. Each variant has been mapped to a cytogenetic interval flanked by the visible markers st (3-44.0) and cu (3-50.0) at a map position of 47.0, which is within or near the interval 75D-76A previously identified as containing the catalase structural gene on the bases of dosage responses to segmental aneuploidy. Each variant operates by modulating the rate of enzyme synthesis and the level of translatable catalase-mRNA.
OM MUTATIONS IN DROSOPHILA ANANASSAE ARE LINKED TO INSERTIONS OF A TRANSPOSABLE ELEMENT
Authors: Shrimpton Antony E , Montgomery Elizabeth A , Langley Charles H
Published: January 2021

It has been hypothesized that Om mutability in Drosophila ananassae (involving spontaneous mutation at 20 loci, resulting in semidominant, nonpleiotropic eye morphology defects) was due to insertion of a transposable element, tom. One particularly unstable Χ-linked Om allele produced several derivatives, one of which has a more extreme Om phenotype and was accompanied by a singed bristle mutant, sn9g. DNA probes from the sn locus of D. melanogaster were used to clone the homologous region of D. ananassae. Analysis of sn9g DNA detected a 6.5-kb insert. Genomic Southern blotting and in situ hybridization techniques showed that this insert is repetitive and dispersed. The existence of the tom element is supported by genetic mapping that established homology between the 6.5-kb sn9g insert and Om mutants at the four Χ-linked loci tested.
EVIDENCE FOR EVOLUTIONARY DUPLICATION OF GENES IN THE DOPA DECARBOXYLASE REGION OF DROSOPHILA
Authors: Eveleth David D , Marsh J Lawrence
Published: January 2021

The region surrounding the dopa decarboxylase gene (Ddc) of Drosophila contains a cluster of genes, many of which appear to be functionally related by virtue of their effects on cuticle development and/or catecholamine metabolism. In this report we describe evidence that the Ddc gene and the closely linked alpha-methyldopa hypersensitive (amd) gene share extensive sequence homology and are the products of a gene duplication event. The two genes are transcribed convergently and are separated by 2.4 kb. A gene located between Ddc and amd expresses a 2.0-kb mRNA and appears to partially overlap the Ddc gene. The organization of these transcripts implies a complex series of events giving rise to the present pattern. The patterns of expression of these genes do not support a model of coordinate regulation, but are more consistent with a pattern of duplication and divergence to various related metabolic subspecialties. These data provide the first evidence for structural relationships among genes in the 37C cluster.
QUANTITATIVE GENETICS OF DROSOPHILA MELANOGASTER. I. SEXUAL DIMORPHISM IN GENETIC PARAMETERS FOR WING TRAITS
Authors: Cowley David E , Atchley William R , Rutledge J J
Published: January 2021

Sexual dimorphism in genetic parameters is examined for wing dimensions of Drosophila melanogaster. Data are fit to a quantitative genetic model where phenotypic variance is a linear function of additive genetic autosomal variance (common to both sexes), additive genetic X-linked variances distinct for each sex, variance due to common rearing environment of families, residual environmental variance, random error variance due to replication, and variance due to measurement error and developmental asymmetry (left vs. right sides). Polygenic dosage compensation and its effect on genetic variances and covariances between sexes is discussed. Variance estimates for wing length and other wing dimensions highly correlated with length support the hypothesis that the Drosophila system of dosage compensation will cause male X-linked genetic variance to be substantially larger than female X-linked variance. Results for various wing dimensions differ, suggesting that the level of dosage compensation may differ for different traits. Genetic correlations between sexes for the same trait are presented. Total additive genetic correlations are near unity for most wing traits; this indicates that selection in the same direction in both sexes would have a minor effect on changing the magnitude of difference between sexes. Additive X-linked correlations suggest some genotype × sex interactions for X-linked effects.
SEQUENCE AND TRANSCRIPTS OF THE BACTERIOPHAGE T4 DNA REPAIR GENE uvsY
Authors: Gruidl Michael E , Mosig Gisela
Published: January 2021

We have cloned, sequenced and analyzed transcription of the phage T4 uvsY gene. This gene is transcribed from a single gp MotA-dependent middle promoter to give a major transcript of approximately 930 nucleotides and a minor transcript of approximately 620 nucleotides. All in vivo and in vitro uvsY transcripts show anomalous migration in agarose gels. The uvsY transcript contains an open reading frame coding for an 137 amino acid [15.8 kilodaltons (kD)] UvsY protein and two unidentified open reading frames, ORF UvsY.-1 (9.0 kD) and ORF UvsY.-2 (6.0 kD). Our DNA sequence differs in only three places from that published by Takahashi et al.However, one of these changes alters the predicted carboxy terminus of the UvsY protein. Marker rescue experiments map gene 25 to the region upstream of uvsY. Gene 25 is likely, although not certain, to correspond to an ORF that is found upstream from uvsY and is translated in the same direction.
GENETIC LOCALIZATION AND ACTION OF REGULATORY GENES AND ELEMENTS FOR TISSUE-SPECIFIC EXPRESSION OF α-AMYLASE IN DROSOPHILA MELANOGASTER
Authors: Klarenberg A J , Visser A J S , Willemse M F M , Scharloo W
Published: January 2021

Regulation of tissue-specific α-amylase (Amy) expression in Drosophila melanogaster was investigated with a newly developed method that detects the distribution of α-amylase allozymes in midguts of single adults or third-instar larvae. Trans regulation was found for α-amylase production in the posterior midgut (PMG) of adults, whereas cis regulation was demonstrated for the larval midgut. Independent regulation of components of the duplicated Amy locus was found in larvae. Recombination between the components of the Amy locus did not result in separation of the putative, very closely linked (less than 0.1 cM) cis-acting regulatory elements for α-amylase expression in the anterior midgut (AMG) of larvae. The expression of one of the components of the duplicated Amy locus in the AMG of larvae was influenced by a regulatory gene that was mapped at 2-79.1. α-Amylase expression in the adult PMG was controlled by a trans-acting regulatory gene localized at 2-79.0, in agreement with the data of Abraham and Doane.
Recessive Lethal Mutations and the Maintenance of Duplication-Bearing Strains of Dictyostelium discoideum
Authors: Welker Dennis L , Williams Keith L
Published: January 2021

Recessive lethal mutations have been isolated and used to maintain n + 1 aneuploid strains of Dictyostelium discoideum carrying a duplication of part or all of linkage group VII. The recessive lethal mutations, relA351 and relB352, arose spontaneously in diploids; no mutagenic treatment was used in the isolation of these mutations. The probable gene order on linkage group VII is: centromere, relB, couA, bsgB, cobA, relA . Maintenance of aneuploids disomic for linkage group VII was made possible by complementation of a rel mutation on each linkage group VII homologue by the corresponding wild-type allele on the other linkage group VII homologue. The duplication-bearing disomic strains were slow-growing and produced faster-growing sectors on the colony edge. Haploid sectors probably arise by a combination of mitotic recombination and subsequent loss of one homologue, diploid sectors may be formed by chromosome doubling to 2n + 2, followed by chromosome loss to return to 2n, and aneuploid sectors may arise by deletion or new mutation.
Use of P-Element-Mediated Transformation to Identify the Molecular Basis of Naturally Occurring Variants Affecting Adh Expression in Drosophila melanogaster
Authors: Laurie-Ahlberg Cathy C , Stam Lynn F
Published: January 2021

The purpose of the work reported here is to identify the molecular basis of the difference in level of expression between the polymorphic Slow and Fast alcohol dehydrogenase (Adh) alleles in Drosophila melanogaster . Previous studies have shown that Fast lines typically have a two- to threefold higher activity level than Slow lines and they also have a substantially higher level of ADH-protein (estimated immunologically). The results of a restriction fragment length polymorphism study in relation to ADH activity variation had previously suggested that the difference in Adh expression between allozymes might not be due entirely to the amino acid replacement substitution, but could be due in part to linkage disequilibrium with a regulatory site polymorphism. Here we describe an approach that makes use of P-element-mediated transformation in order to identify the nucleotide substitution(s) responsible for this difference in ADH level. This approach consists of generating recombinants in vitro between Adh region clones derived from a typical Slow/Fast pair of alleles and then testing for the effects of particular restriction fragments on expression in vivo by transformation. Using this approach, the effect on both ADH activity and ADH-protein level clearly maps to a 2.3-kb restriction fragment that includes all of the Adh coding sequence and some intron and 3' flanking sequence, but excludes all of the 5' flanking sequence of the distal (adult) transcriptional unit. Comparison of Kreitman's DNA sequences for this fragment from several Slow and Fast alleles showing the typical difference in activity level shows that only three nucleotide substitutions distinguish all Fast from all Slow alleles. Thus, it is likely that one or more of these substitutions causes the major difference in Adh expression between allozymic classes. One of these substitutions is, of course, the Slow/Fast amino acid replacement substitution (at 1490) while the other two are nearby third position silent substitutions (at 1443 and 1527). A quantiative analysis of variation among transformant stocks shows that the P-element transformation approach can be used to localize even relatively small effects on gene expression (on the order of 20%).
Ordered Linear Tetrads Are Produced by the Sporulation of Newly Formed Zygotes of Saccharomyces cerevisiae
Authors: Thomas James H , Botstein David
Published: January 2021

Diploid Saccharomyces cerevisiae strains normally sporulate to produce tetrahedral unordered asci containing four spores (tetrads). We report that when newly formed zygotes are subjected to the same sporulation conditions, they form predominantly linear ordered tetrads. We show that the two spores from each end of such a linear tetrad invariably contain nonsister centromeres. Spore viability, recombination and independence of centromere segregation appear unaffected.
Hsp28stl: A P-Element Insertion Mutation That Alters the Expression of a Heat Shock Gene in Drosophila melanogaster
Authors: Eissenberg Joel C , Elgin Sarah C R
Published: January 2021

We have identified and cloned a mutant allele of the small heat shock gene Hsp28 of Drosophila melanogaster. This allele, which we have called Hsp28stl, produces small amounts of a single aberrantly large, heat-inducible transcript in heat-shocked flies, while a normal-sized Hsp28 transcript is present only in fertile females. No Hsp28 transcript at all is detected in mutant prepupae, a stage when wild-type flies show high levels of Hsp28 RNA. We have cloned the Hsp28stl allele, and have found that a 1.3-kb defective P-element is present 5' to Hsp28 in the mutant line. The site of P-element insertion lies between the Hsp28 "TATA box" sequence and the Hsp28 RNA cap site; in contrast to previously described P-element insertions, the element at Hsp28stl is flanked by a two base pair duplication of the insertional target sequence. The results suggest that this insert may separate elements regulating heat-inducible and developmental expression of Hsp28, leading to the different patterns of transcription observed.
Cryptic Genes for Cellobiose Utilization in Natural Isolates of Escherichia coli
Authors: Hall Barry G , Betts Paul W
Published: January 2021

The ECOR collection of natural Escherichia coli isolates was screened to determine the proportion of strains that carried functional, cryptic and nonfunctional genes for utilization of the three β-glucoside sugars, arbutin, salicin and cellobiose. None of the 71 natural isolates utilized any of the β-glucosides. Each strain was subjected to selection for utilization of each of the sugars. Only five of the isolates were incapable of yielding spontaneous β-glucoside-utilizing mutants. Forty-five strains yielded cellobiose+ mutants, 62 yielded arbutin+ mutants, and 58 strains yielded salicin+ mutants. A subset of the mutants was screen by mRNA hybridization to determine whether they were expressing either the cel or the bgl β-glucoside utilization operons of E. coli K12. Two cellobiose+ and two arbutin+-salicin+ strains failed to express either of these known operons. It is concluded that there are at least four gene clusters specifying β-glucoside utilization functions in E. coli populations, and that all of these are normally cryptic. It is estimated that in any random isolate the probability of any particular cluster having been irreversibly inactivated by the accumulation of random mutations is about 0.5.
Hypervariable Bkm DNA Loci in a Moth, Ephestia kuehniella : Does Transposition Cause Restriction Fragment Length Polymorphism?
Authors: Traut W
Published: January 2021

Bkm sequences, originally isolated from snake satellite DNA, are a component of eukaryote genomes with a preferential location on sex chromosomes. In the Ephestia genome, owing to the presence of only a few Bkm-positive BamHI restriction fragments and to extensive restriction fragment length polymorphisms between and within inbred strains, a genetic crossbreeding analysis was feasible. No sex linkage of Bkm was detected. Instead-depending on the strain-two or three autosomal Bkm DNA loci were identified. All three loci were located on different chromosomes. Fragment length and transmission of fragments was stable in some crosses. In others, changes in fragment length or loss of the Bkm component were observed, probably depending on the source strain of the fragment. The anomalous genetic behaviour is best accounted for by the assumption that Bkm sequences are included in mobile genetic elements.
The Genes for Mouse Salivary Androgen-Binding Protein (ABP) Subunits Alpha and Gamma Are Located on Chromosome 7
Authors: Dlouhy Stephen R , Taylor Benjamin A , Karn Robert C
Published: January 2021

We demonstrate that the previously described gene Androgen binding protein (Abp; Dlouhy and Karn, 1984) codes for the Alpha subunit of ABP and rename the locus Androgen binding protein alpha (Abpa). A study of recombinant inbred strains demonstrates that Abpa is located on chromosome 7 near Glucose phosphate isomerase-1 (Gpi-1). Biochemical and genetic evidence indicates the existence of another ABP subunit, Gamma, and its locus, Androgen binding protein gamma (Abpg), that is closely linked to Abpa. Although no polymorphism has yet been found for the previously described Beta subunit of ABP (Dlouhy and Karn, 1983; 1984), we suggest that it represents a third locus, Androgen binding protein beta (Abpb). ABP subunits appear to dimerize randomly and a model is presented demonstrating the origin of six ABP dimers in the salivas of AbpaaAbpga/AbpabAbpgb heterozygous mice. The results of cell-free translation studies in which the pre-ABP subunits are identified specifically by immunoprecipitation with anti-ABP antibody supports the idea that independent mRNAs code for the Alpha, Beta and Gamma subunits.
Components of Genetic Variation Associated with Second and Third Chromosome Gene Arrangements in Drosophila melanogaster
Authors: Ferrari James A
Published: January 2021

The effects of naturally occuring combinations of second and third chromosome gene arrangements of Drosophila melanogaster on two quantitative traits were partitioned into parameters of additive, dominance and interaction components of genetic variation. Development time and preadult survival of the gene arrangement genotypes were measured under four experimental conditions. Gene arrangement effects, when significant, were predominantly additive under all conditions. Experimental conditions, however, did influence gene arrangement effects. A second chromosome effect on development time was detected when amount of food or temperature was reduced, but not under optimal conditions. A third chromosome additive effect on development was observed under all experimental conditions. A consistent interaction effect between second and third chromosome gene arrangements was detected only at low temperature. Gene arrangement effects on survival were not as consistent as for development time, but also depended on experimental conditions.
Distribution of the Sex combs reduced Gene Products in Drosophila melanogaster
Authors: Mahaffey James W , Kaufman Thomas C
Published: January 2021

The spatial and temporal distribution of RNA and protein encoded by the homeotic Sex combs reduced (Scr) gene were examined during Drosophila development. The gene products are present in the epidermis of both the labial and first thoracic segments as would be predicted from prior genetic studies. However, the pattern in the central nervous system (CNS) and mesoderm is further restricted; the major expression located in the labial neuromere of the CNS and the mesoderm of the first thoracic segment. The spatial restriction within the CNS is correlated with and may be due to a differential timing of expression in the labial and first thoracic ectoderm. The labial ectoderm accumulates the Scr RNA prior to segregation of the neuroblasts while expression in the first thoracic ectoderm occurs after neuroblast segregation. The protein is also observed in the subesophageal ganglia of both larvae and adults, as well as in the labial and first thoracic imaginal discs. Surprisingly, the protein is also present to a lesser extent in second and third thoracic leg discs.
Nucleotide Sequence of the Adh Gene Region of Drosophila pseudoobscura: Evolutionary Change and Evidence for an Ancient Gene Duplication
Authors: Schaeffer Stephen W , Aquadro Charles F
Published: January 2021

The alcohol dehydrogenase (Adh) locus (ADH; alcohol: NAD+ oxidoreductase, EC 1.1.1.1) of Drosophila pseudoobscura was cloned and sequenced. Forty-five percent of the "effectively silent sites" have changed between Adh in D. pseudoobscura of the obscura species group and the homologous DNA sequence in D. mauritiana, the latter representing the melanogaster species group. The untranslated leader sequence of the adult transcript of D. pseudoobscura has two deletions relative to the D. mauritiana message. The ADH protein sequences of D. pseudoobscura is missing the third and fourth amino acids at the N-terminus relative to the D. mauritiana enzyme. Of the remaining 254 amino acid positions, 27 (10.64%) differ between the two species. Amino acid replacements are randomly distributed into hydrophilic and hydrophobic domains of ADH. However, replacement substitutions are distributed nonrandomly across the three exons among D. pseudoobscura and members of the melanogaster subgroup, suggesting that functional constraints across the exons are different. Surprisingly, silent substitutions are also nonrandomly distributed with the third exon being the most divergent. This pattern suggests possible selective constraints on supposedly neutral silent substitutions and/or variation in underlying mutation rates across the gene. The presence of transcriptional and translational signals at the beginning and end of conserved sequences 3′ to Adh implies the existence of a previously undescribed gene. Codon usage and patterns of nucleotide divergence are consistent with a protein coding function for this gene. In addition, conservation of nucleotide and amino acid sequence and similarity in hydropathy plots suggests that the gene 3′ to Adh represents an ancient duplication of the Adh gene.
Physiological Significance of the Alcohol Dehydrogenase Polymorphism in Larvae of Drosophila
Authors: Heinstra Pieter W H , Scharloo Willem , Thörig George E W
Published: January 2021

This study deals with biochemical and metabolic-physiological aspects of the relationship between variation in in vivo alcohol dehydrogenase activity and fitness in larvae homozygous for the alleles Adh71k, AdhF, AdhS, of Drosophila melanogaster, and for the common Adh allele of Drosophila simulans. The Adh genotypes differ in the maximum oxidation rates of propan-2-ol into acetone in vivo. There are smaller differences between the Adh genotypes in rates of ethanol elimination. Rates of accumulation of ethanol in vivo are negatively associated with larval-to-adult survival of the Adh genotypes. The rank order of the maximum rates of the ADHs in elimination of propan-2-ol, as well as ethanol, is ADH-71k > ADH-F > ADH-S- > simulans-ADH. The ratio of this maximum rate to ADH quantity reveals the rank order of ADH-S > ADH-F > ADH-71k > simulans-ADH, suggesting a compensation for allozymic efficiency by the ADH quantity in D. melanogaster.—Our findings show that natural selection may act on the Adh polymorphism in larvae via differences in rates of alcohol metabolism.
Allelic Variation Within the Emv-15 Locus Defines Genomic Sequences Closely Linked to the agouti Locus on Mouse Chromosome 2
Authors: Siracusa Linda D , Russell Liane B , Jenkins Nancy A , Copeland Neal G
Published: January 2021

Gene(s) at the agouti locus act within the microenvironment of the hair follicle to switch pigment synthesis in the melanocyte between eumelanin (black or brown pigment) and phaeomelanin (yellow pigment). Many phenotypic variants of this locus have been described. The mechanism(s) of gene action causing such variation in coat-color phenotype is not known. The close linkage of an endogenous ecotropic murine leukemia provirus, Emv-15, to the lethal yellow mutation of the agouti locus provides a means to molecularly access genes at or near the agouti locus. We have identified and used a unique mouse sequence flanking the Emv-15 provirus to define three alleles of the Emv-15 locus. We found a correlation between the presence of specific Emv-15 alleles and the origins of specific agouti locus mutations, confirming close linkage. However, we found some exceptions which suggest that the Emv-15 locus is closely linked to, but genetically separable from, the agouti locus.
Extended Region of Nodulation Genes in Rhizobium meliloti 1021. I. Phenotypes of Tn5 Insertion Mutants
Authors: Swanson Jean A , Tu Janice K , Ogawa Joy , Sanga Raghu , Fisher Robert F , Long Sharon R
Published: January 2021

Rhizobium meliloti Nod- mutant WL131, a derivative of wild-type strain 102F51, was complemented by a clone bank of wild-type R. meliloti 1021 DNA, and clone pRmJT5 was recovered. Transfer of pRmJT5 conferred alfalfa nodulation on other Rhizobium species, indicating a role in host range determination for pRmJT5. Mutagenesis of pRmJT5 revealed several segments in which transposon insertion causes delay in nodulation, and/or marked reduction of the number of nodules formed on host alfalfa plants. The set of mutants indicated five regions in which nod genes are located; one mutant, nod-216, is located in a region not previously reported to encode a nodulation gene. Other mutant phenotypes correlated with the positions of open reading frames for nodH, nodF and nodE, and with a 2.2-kb Eco RI fragment. A mutant in nodG had no altered phenotype in this strain. One nodulation mutant was shown to be a large deletion of the common nod gene region. We present a discussion comparing the various studies made on this extended nod gene region.
Molecular and Recombinational Mapping of Mutations in the Ace Locus of Drosophila melanogaster
Authors: Nagoshi Rodney N , Gelbart William M
Published: January 2021

The Ace locus in Drosophila melanogaster is known to be the structural gene for acetylcholinesterase. Ace is located in a region of chromosome arm 3R which has been subjected to intensive genetic and molecular analysis. Previous deletion mapping studies have identified a 40-kb region within which the Ace gene resides. This report focuses on the further localization of Ace within this 40-kb interval. Within this region, selective fine structure recombinational analysis was employed to localize three recessive Ace lethals relative to unselected restriction site variations. These three mutations fall into a segment of 7 kb within the Ace interval. Fine structure recombinational analysis was also used to confirm that the Ace  - phenotype of one deletion, Df(3R)AceHD1, co-segregated with the molecular deletion. This deletion does not fully remove Ace activity, but it behaves as a recessive Ace lethal. Df(3R)AceHD1is the most distal Ace lesion identified and indicates that the Ace locus must extend at least 16 kb. Several poly(A)transcripts are detectable in the region defined by the Ace lesions. The position and extent of the Ace locus, as well as the types of transcripts found, is consistent with the recent findings which identified Torpedo-AChE homologous cDNA sequences in this region.
Genetic Diversity and Linkage Disequilibrium in Drosophila melanogaster With Different Rates of Development
Authors: Marinković Dragoslav , Tucić Nikola , Moya Andrés , Ayala Francisco J
Published: January 2021

We have examined eight enzyme polymorphisms in groups of Drosophila melanogaster flies with fast, intermediate and slow development. The allelic frequencies are similar in all three developmental classes, but the distribution of the genotypes among the classes is significantly heterogenous for the three loci on the second chromosome. When the total sample of 300 individuals is examined, significant gametic disequilibrium appears in 3 out of 13 pairs of genes located on the same chromosome and in 4 out of 15 pairs of genes located on different chromosomes. This 25% incidence of disequilibrium between pairs of genes is larger than previously observed in other natural populations (but similar to the incidence observed in laboratory populations). The greater frequency of significant gametic disequilibrium in our study is probably due to the larger number of genomes sampled.—Some models specifically predict that individuals with faster rates of development (i.e., greater fitness) should be more heterozygous (and exhibit more linkage disequilibrium) than individuals with slower development. This hypothesis is not supported by our results.
The Influence of Nonautonomous P Elements on Hybrid Dysgenesis in Drosophila melanogaster
Authors: Simmons Michael J , Raymond John D , Boedigheimer Michael J , Zunt Joseph R
Published: January 2021

An inbred line of the M' strain Muller-5 Birmingham was studied for its abilities to affect P-M hybrid dysgenesis. This strain possesses 57 P elements, all of which are apparently defective in the production of the P transposase. In combination with transposase-producing elements, these nonautonomous elements can enhance or diminish the incidence of hybrid dysgenesis, depending on the trait that is studied. Dysgenic flies that have one or more paternally-derived chromosomes with these elements partially repress the instability of the P element insertion mutation, snw; however, such flies have elevated frequencies of another dysgenic trait, GD sterility, and also show distorted segregation ratios. An explanation is presented in which all of these phenomena are unified as manifestations of the kinetics of P element activation in the germ line. The progeny of Muller-5 Birmingham females exhibit partial repression of both snw instability and GD sterility. This repression appears to involve a factor that can be transmitted maternally through at least two generations. This mode of repression therefore conforms to the pattern of inheritance of the P cytotype, the condition that brings about nearly total repression of P element activity in some strains. Models in which this repression could arise from the nonautonomous P elements of Muller-5 Birmingham are discussed.
Molecular basis for the CAT-2 null phenotype in maize.
Authors: Bethards L A , Scandalios J G
Published: January 2021

Previous reports have described several maize lines whose developmental patterns of catalase gene expression vary from the "typical" maize line, W64A. Among these variants are the lines A16 and A338, both found to be null for the CAT-2 protein. Identification of a third CAT-2 null line, designated A340, is described. RNA blots and S1 nuclease protection analysis indicate that all three CAT-2 null lines produce a similarly shortened Cat2 transcript. The molecular basis for this aberrant Cat2 transcript is discussed.
Cytogenetic definition and morphogenetic analysis of Delta, a gene affecting neurogenesis in Drosophila melanogaster.
Authors: Alton A K , Fechtel K , Terry A L , Meikle S B , Muskavitch M A
Published: January 2021

We have conducted a genetic analysis of a small interval of the third chromosome known to include Delta (Dl), a locus that affects the segregation of the ectoderm into neural and epidermal lineages during embryogenesis and the morphogenesis of some ectodermally derived structures, in Drosophila melanogaster. This analysis has led to the definition of seven independent complementation groups, one of which is Delta, within the interval extending from 91F6-13 to 92A2. Among the extant mutations in these seven loci, only mutations in Dl lead to the so-called neurogenic phenotype: hypertrophy of the nervous system and reduction of the epidermis. Combined cytogenetic and genetic analyses allow us to define absolute proximal (91F5-92A1) and distal (92A2) cytogenetic limits for the Dl locus. We have isolated hypomorphic and amorphic alleles of Dl and find that, for any given allele, there is an inverse correlation between neural hypertrophy and epidermal reduction in embryos and a direct correlation between the severity of embryonic phenotypes in mutant homozygotes and hemizygotes and the imaginal phenotype in heterozygous adults.
A model to estimate the increase of genetic variability due to electrophoretically cryptic alleles.
Authors: Iizuka M
Published: January 2021

To consider the problem of the increase of genetic variability due to electrophoretically cryptic alleles, the equally degenerate electromorph model is proposed. Mutation, random sampling drift and selection can be incorporated in this model. Simple formulas are obtained to show how genetic variability increases when cryptic alleles are distinguished. This model is extended to a two-population system to see the effect of cryptic allele variation on genetic differentiation.
Changes in DNA base sequence induced by gamma-ray mutagenesis of lambda phage and prophage.
Authors: Tindall K R , Stein J , Hutchinson F
Published: January 2021

Mutations in the cI (repressor) gene were induced by gamma-ray irradiation of lambda phage and of prophage, and 121 mutations were sequenced. Two-thirds of the mutations in irradiated phage assayed in recA host cells (no induction of the SOS response) were G:C to A:T transitions; it is hypothesized that these may arise during DNA replication from adenine mispairing with a cytosine product deaminated by irradiation. For irradiated phage assayed in host cells in which the SOS response had been induced, 85% of the mutations were base substitutions, and in 40 of the 41 base changes, a preexisting base pair had been replaced by an A:T pair; these might come from damaged bases acting as AP (apurinic or apyrimidinic) sites. The remaining mutations were 1 and 2 base deletions. In irradiated prophage, base change mutations involved the substitution of both A:T and of G:C pairs for the preexisting pairs; the substitution of G:C pairs shows that some base substitution mechanism acts on the cell genome but not on the phage. In the irradiated prophage, frameshifts and a significant number of gross rearrangements were also found.
Drosophila melanogaster mitochondrial DNA: gene organization and evolutionary considerations.
Authors: Garesse R
Published: January 2021

The sequence of a 8351-nucleotide mitochondrial DNA (mtDNA) fragment has been obtained extending the knowledge of the Drosophila melanogaster mitochondrial genome to 90% of its coding region. The sequence encodes seven polypeptides, 12 tRNAs and the 3' end of the 16S rRNA and CO III genes. The gene organization is strictly conserved with respect to the Drosophila yakuba mitochondrial genome, and different from that found in mammals and Xenopus. The high A + T content of D. melanogaster mitochondrial DNA is reflected in a reiterative codon usage, with more than 90% of the codons ending in T or A, G + C rich codons being practically absent. The average level of homology between the D. melanogaster and D. yakuba sequences is very high (roughly 94%), although insertion and deletions have been detected in protein, tRNA and large ribosomal genes. The analysis of nucleotide changes reveals a similar frequency for transitions and transversions, and reflects a strong bias against G + C on both strands. The predominant type of transition is strand specific.
Molecular analysis of an unstable P element insertion at the singed locus of Drosophila melanogaster: evidence for intracistronic transposition of a P element.
Authors: Hawley R S , Steuber R A , Marcus C H , Sohn R , Baronas D M , Cameron M L , Zitron A E , Chase J W
Published: January 2021

In a companion study, a number of P element insertions into the singed locus were characterized. Here is reported a detailed analysis of the structure and mutability of another P element insertion at sn, known as sncm. Under conditions which mobilize P elements, sncm mutates at high frequency to both wild-type (sn+) and to a much more extreme allele (snext). Wild-type revertants appear to represent precise or nearly precise excisions of the P element. Certainly two, and most likely all five, of the snext alleles studied result from the insertion of a duplicate copy of this P element into a nearby site in an inverted orientation. We propose a model in which both the sn+ and snext mutational events can be explained by excision of the P element from one chromatid followed by reintegration into the sister chromatid at a nearby site (intracistronic transposition). Finally, it is shown that the snext alleles are themselves unstable and the structure of a resulting chromosome aberration is examined.