bluuebunny/crossref_metadata_2025_split huggingface dataset:
GENETIC ANALYSIS OF CHROMOMERE 3D4 IN DROSOPHILA MELANOGASTER: THE DUNCE AND SPERM-AMOTILE GENES
Authors: Salz Helen K , Davis Ronald L , Kiger John A 
Published: April 2021

ABSTRACT
Both male and female Drosophila that are homozygous deficient for chromomere 3D4 are viable but sterile and lack detectable cAMP-specific phosphodiesterase activity. Two genes have been localized to this region: spermamotile (sam) and dunce (dnc). The sperm-amotile gene is required for male fertility, and the dunce gene is required for normal learning, female fertility, and cAMP-specific phosphodiesterase activity. The sperm-amotile gene maps 0.24 map units to the left of dunce. The expression of the dunce gene seems to be affected by a chromosomal break to the left of sperm-amotile. The fertility of dunce females varies according to changes in the genetic background and the presence or absence of an X-linked suppressor.
DIFFERENCE IN THE RATIO OF DOMINANT-LETHAL MUTATIONS TO HERITABLE TRANSLOCATIONS PRODUCED IN MOUSE SPERMATIDS AND FULLY MATURE SPERM AFTER TREATMENT WITH TRIETHYLENEMELAMINE (TEM)
Authors: Generoso W M , Cain K T , Cornett C V , Russell E W , Hellwig C S , Horton C Y 
Published: April 2021

ABSTRACT
The relative induction of dominant-lethal mutations and heritable translocations in triethylenemelamine-treated male postmeiotic germ cells of mice was determined depending on the stage treated. Males were mated either 11.5–14.5 days after treatment (middle spermatids) or less than 2.5 hours after treatment (fully mature sperm). Results clearly showed that, even though similar levels of dominant-lethal mutations were induced in fully mature sperm and in middle spermatids, the frequency of heritable translocations induced in mature sperm was markedly lower than that induced in middle spermatids. This observation was used, together with earlier ones, to suggest a mechanism by which dominant-lethal mutations and heritable translocations are produced following chemical treatment of male postmeiotic germ cels.
ESTIMATING GENETIC VARIABILITY WITH RESTRICTION ENDONUCLEASES
Authors: Hudson Richard R 
Published: April 2021

ABSTRACT
The estimation of the amount of sequence variation in samples of homologous DNA segments is considered. The data are assumed to have been obtained by restriction endonuclease digestion of the segments, from which the numbers and frequencies of the cleavage sites in the sample are determined. An estimator, p, of the proportion of sites that are polymorphic in the sample is derived without assuming any particular population genetic model for the evolution of the population. The estimator is very close to the Ewens, Spielman and Harris (1981) estimator that was derived with the symmetric Wright-Fisher neutral model. Engels (1981) has also recently proposed an estimator of the same quantity, and he arrived at his estimator without assuming a particular population genetic model. The sampling variance of p and Engels' estimator are derived. It is found that the sampling variance of p is lower than the sampling variance of Engels' estimator. Also, the sampling variance of θ, an estimate of θ (=4Nu) is obtained for the symmetric Wright-Fisher neutral model with free recombination and with no recombination.
THE LOCATION OF A MUTATOR FACTOR IN A STRAIN OF DROSOPHILA MELANOGASTER BY ASSAYING MALE RECOMBINATION
Authors: Scobie Nita N , Schaffer Henry E 
Published: April 2021

ABSTRACT
In a set of "mutation accumulation lines," of Drosophila melanogaster that had originated from two different wild-caught lethal-carrying second chromosomes (Yamaguchi and Mukai 1974; Mukai and Cockerham 1977; Voelkers, Schaffer and Mukai 1980) a correlation exists between high rates of reverse mutation at two visible loci and the ability to induce male recombination (Scobie and Schaffer 1982). The second and third chromosomes were extracted from the lines demonstrating these phenomena and tested for independent ability to induce male recombination. When the wild chromosome being tested was of male origin, extracted second chromosome lines were found to induce moderate to high levels of male recombination and reduced transmission frequency of the wild chromosome (the k value). The recombinants recovered in these crosses also demonstrated a high level of double-crossover recombination without the recovery of the reciprocal double-recombinant types. In addition, identifiable portions of extracted second chromosomes of male origin have been placed on very similar, marked genetic backgrounds and tested for their ability to induce male recombination. Results of this procedure have identified two regions of the second chromosome that induce male recombination and reduce k values. These results are consistent with the hypothesis that there exist two mutator factors on the second chromosome, each associated with a "mutation accumulation line" with an unstable locus.
GENETIC ANALYSIS OF MUTATIONS AT THE GLUED LOCUS AND INTERACTING LOCI IN DROSOPHILA MELANOGASTER
Authors: Harte Peter J , Kankel Douglas R 
Published: April 2021

ABSTRACT
A genetic analysis of the dominant mutation Glued that perturbs the development of the normal axonal architecture of the fly's visual system was undertaken. Ten new alleles at this locus were identified and characterized. TWO complementation groups that were identified failed to complement the original allele, suggesting that it is a double mutant or that it resides at a complex locus. Several of the new alleles display visual-system abnormalities similar to those of the original mutation. Seven of the eight members of one complementation group are embryonic/early larval lethals, like the original mutation. The other allele in this group is temperature sensitive. Homozygous mutant adults exhibit a temperature-sensitive female sterile phenotype. Unsuccessful attempts to recover genetic mosaics carrying clones of cells homozygous for some of these mutations revealed that they are either essential for the viability of individual cells or that they affect some other fundamental cellular function, such as mitosis or the ability to participate in tissue level organization, which prevents them from being recovered in adult mosaics. This also indicates that these mutations do not specifically affect neural cells. A number of X-ray- and EMS-induced partial and complete phenotypic "revertants" of the original allele have also been isolated as material for a comparative analysis of visual system development. All "revertants" that alter the abnormal eye phenotype towards the wild type have similar impact on the organization of the optic lobe.
THE EVOLUTIONARY HISTORY OF DROSOPHILA BUZZATII. III. CYTOGENETIC RELATIONSHIPS BETWEEN TWO SIBLING SPECIES OF THE BUZZATII CLUSTER
Authors: Ruiz A , Fontdevila A , Wasserman M 
Published: April 2021

ABSTRACT
Drosophila buzzatii has been found sympatric in Argentina with a closely-related sibling species, D. serido. The biogeographical, reproductive and chromosomal data allow us to combine these species into an evolutionary unit, the buzzatii cluster. Salivary gland chromosomes also have been used to determine their phylogenetic relationships with other closely related species, showing that the buzzatii cluster species share two inversions—2d 2 and 2s 6—with the species of the martensis cluster. Both clusters arose from South American populations of the ancestor of the mulleri complex, and we propose to include D. buzzatii and D. serido in the mulleri complex of the repleta group.
Dominant suppressors of yeast actin mutations that are reciprocally suppressed.
Authors: Adams A E , Botstein D 
Published: April 2021

Abstract
A gene whose product is likely to interact with yeast actin was identified by the isolation of pseudorevertants carrying dominant suppressors of the temperature-sensitive (Ts) act1-1 mutation. Of 30 independent revertants analyzed, 29 were found to carry extragenic suppressor mutations and of these, 24/24 tested were found to be linked to each other. This linkage group identifies a new gene SAC6, whose product, by several genetic criteria, is likely to interact intimately with actin. First, although act1-1 sac6 strains are temperature-independent (Ts+), 4/17 sac6 mutant alleles tested are Ts in an ACT1+ background. Moreover, four Ts+ pseudorevertants of these ACT1+ sac6 mutants carry suppressor mutations in ACT1; significantly, three of these are again Ts in a SAC6+ background, and are most likely new act1 mutant alleles. Thus, mutations in ACT1 and SAC6 can suppress each other's defects. Second, sac6 mutations can suppress the Ts defects of the act1-1 and act1-2, but not act1-4, mutations. This allele specificity indicates the sac6 mutations do not suppress by simply bypassing the function of actin at high temperature. Third, act1-4 sac6 strains have a growth defect greater than that due to either of the single mutations alone, again suggesting an interaction between the two proteins. The mutant sac6 gene was cloned on the basis of dominant suppression from an act1-1 sac6 mutant library, and was then mapped to chromosome IV, less than 2 cM from ARO1.
Change in chromosome number associated with a double deletion in the Neurospora crassa mitochondrial chromosome.
Authors: Gross S R , Mary A , Levine P H 
Published: April 2021

Abstract
The mitochondrial genome of Neurospora is usually found in a single covalently closed circular 62-kbp DNA molecule. We report here that the mitochondrial genome of a phenotypic revertant of a stopper mutant (stp-ruv) is contained primarily in two separate, nonoverlapping, autonomously replicating circular chromosomes. The circles, one about 21 kbp and the other somewhat less than 36 kbp are derived from the most frequent classes of recombinant chromosomes (21 and 41 kbp) in the chromosomal population of mitochondria in the original stopper mutant. The new, more stable chromosomal configuration, is associated with the deletion of two sequences (1 kbp and 4 kbp) at the splice junctions of the two circles. The data suggest that both deletions are likely to have originated from a single recombinational event involved in generating the 36-kbp circle. Secondary, spontaneously arising derivatives of stp-ruv have been found to yield, at high copy number, short sections of the 21-kbp circle in covalently closed supercoiled circles varying from unit length to very high multimers. The amplified segments span a common segment likely to contain the replication origin of the 21-kbp chromosome.
Haplotype-specific interactions of non-H-2-linked genetic factors controlling the mouse C4 and Slp protein levels.
Authors: Bruisten S M , Skamene E , Demant P 
Published: April 2021

Abstract
The influence of non-H-2 linked genes on the plasma levels of the H-2 S-region encoded proteins C4, Slp, and factor B was tested in Recombinant Inbred (RI) strains. The A X B and B X A RI strains exhibit a continuous range of C4 and Slp levels from very high to very low which reach beyond the levels of their parental strains, C57BL/6J and A/J, indicating involvement of several trans-regulatory (non-H-2-linked) genes. Only limited variation in levels of factor B has been found. No linkage relationship could be established for the trans-regulatory genes, because more than one gene is involved. A complex interaction of H-2 haplotype, genetic background, sex, and possibly maternal effect in determining the C4 and Slp protein plasma levels has been observed. The H-2-dependent sex effect is evident, because males have higher C4 levels than females in RI strains with H-2b but not with H-2a haplotype. This sex effect is also background dependent, because it is present in the H-2b congenic strain on A background (A.BY) but not in C57BL/10 and C57BL/6 (both H-2b). Mice from RI strains with H-2b haplotype have in general higher C4 levels than mice with H-2a haplotype.
A building block model for quantitative genetics.
Authors: Tachida H , Cockerham C C 
Published: April 2021

Abstract
We introduce a quantitative genetic model for multiple alleles which permits the parameterization of the degree, D, of dominance of favorable or unfavorable alleles. We assume gene effects to be random from some distribution and independent of the D's. We then fit the usual least-squares population genetic model of additive and dominance effects in an infinite equilibrium population to determine the five genetic components--additive variance sigma 2 a, dominance variance sigma 2 d, variance of homozygous dominance effects d2, covariance of additive and homozygous dominance effects d1, and the square of the inbreeding depression h--required to treat finite populations and large populations that have been through a bottleneck or in which there is inbreeding. The effects of dominance can be summarized as functions of the average, D, and the variance, sigma 2 D. An important distinction arises between symmetrical and nonsymmetrical distributions of gene effects. With symmetrical distributions d1 = -d2/2 which is always negative, and the contribution of dominance to sigma 2 a is equal to d2/2. With nonsymmetrical distributions there is an additional contribution H to sigma 2 a and -H/2 to d1, the sign of H being determined by D and the skew of the distribution. Some numerical evaluations are presented for the normal and exponential distributions of gene effects, illustrating the effects of the number of alleles and of the variation in allelic frequencies. Random additive by additive (a*a) epistatic effects contribute to sigma 2 a and to the a*a variance, sigma 2/aa, the relative contributions depending on the number of alleles and the variation in allelic frequencies.(ABSTRACT TRUNCATED AT 250 WORDS)
Spatial autocorrelation analysis of migration and selection.
Authors: Sokal R R , Jacquez G M , Wooten M C 
Published: April 2021

Abstract
We test various assumptions necessary for the interpretation of spatial autocorrelation analysis of gene frequency surfaces, using simulations of Wright's isolation-by-distance model with migration or selection superimposed. Increasing neighborhood size enhances spatial autocorrelation, which is reduced again for the largest neighborhood sizes. Spatial correlograms are independent of the mean gene frequency of the surface. Migration affects surfaces and correlograms when immigrant gene frequency differentials are substantial. Multiple directions of migration are reflected in the correlograms. Selection gradients yield clinal correlograms; other selection patterns are less clearly reflected in their correlograms. Sequential migration from different directions and at different gene frequencies can be disaggregated into component migration vectors by means of principal components analysis. This encourages analysis by such methods of gene frequency surfaces in nature. The empirical results of these findings lend support to the inference structure developed earlier for spatial autocorrelation analysis.
Evolutionary Stability for Interactions among Kin under Quantitative Inheritance.
Authors: Harper A B 
Published: April 2021

Abstract
The theory of evolutionarily stable strategies (ESS) predicts the long-term evolutionary outcome of frequency-dependent selection by making a number of simplifying assumptions about the genetic basis of inheritance. I use a symmetrized multilocus model of quantitative inheritance without mutation to analyze the results of interactions between pairs of related individuals and compare the equilibria to those found by ESS analysis. It is assumed that the fitness changes due to interactions can be approximated by the exponential of a quadratic surface. The major results are the following. (1) The evolutionarily stable phenotypes found by ESS analysis are always equilibria of the model studied here. (2) When relatives interact, one of the two conditions for stability of equilibria differs between the two models; this can be accounted for by positing that the inclusive fitness function for quantitative characters is slightly different from the inclusive fitness function for characters determined by a single locus. (3) The inclusion of environmental variance will in general change the equilibrium phenotype, but the equilibria of ESS analysis are changed to the same extent by environmental variance. (4) A class of genetically polymorphic equilibria occur, which in the present model are always unstable. These results expand the range of conditions under which one can validly predict the evolution of pairwise interactions using ESS analysis.
Nonparametric confidence interval estimators for heritability and expected selection response.
Authors: Knapp S J , Bridges-Jr W C , Yang M H 
Published: April 2021

Abstract
Statistical methods have not been described for comparing estimates of family-mean heritability (H) or expected selection response (R), nor have consistently valid methods been described for estimating R intervals. Nonparametric methods, e.g., delete-one jackknifing, may be used to estimate variances, intervals, and hypothesis test statistics in estimation problems where parametric methods are unsuitable, nonrobust, or undefinable. Our objective was to evaluate normal-approximation jackknife interval estimators for H and R using Monte Carlo simulation. Simulations were done using normally distributed within-family effects and normally, uniformly, and exponentially distributed between-family effects. Realized coverage probabilities for jackknife interval (2) and parametric interval (5) for H were not significantly different from stated probabilities when between-family effects were normally distributed. Coverages for jackknife intervals (3) and (4) for R were not significantly different from stated coverages when between-family effects were normally distributed. Coverages for interval (3) for R were occasionally significantly less than stated when between-family effects were uniformly or exponentially distributed. Coverages for interval (2) for H were occasionally significantly less than stated when between-family effects were exponentially distributed. Thus, intervals (3) and (4) for R and (2) for H were robust. Means of analysis of variance estimates of R were often significantly less than parametric values when the number of families evaluated was 60 or less. Means of analysis of variance estimates of H were consistently significantly less than parametric values. Means of jackknife estimates of H calculated from log transformed point estimates and R calculated from untransformed or log transformed point estimates were not significantly different from parametric values. Thus, jackknife estimators of H and R were unbiased. Delete-one jackknifing is a robust, versatile, and effective statistical method when applied to estimation problems involving variance functions. Jackknifing is especially valuable in hypothesis test estimation problems where the objective is comparing estimates from different populations.
Analysis of the GAL3 signal transduction pathway activating GAL4 protein-dependent transcription in Saccharomyces cerevisiae.
Authors: Bhat P J , Oh D , Hopper J E 
Published: April 2021

Abstract
The Saccharomyces cerevisiae GAL/MEL regulon genes are normally induced within minutes of galactose addition, but gal3 mutants exhibit a 3-5-day induction lag. We have discovered that this long-term adaptation (LTA) phenotype conferred by gal3 is complemented by multiple copies of the GAL1 gene. Based on this result and the striking similarity between the GAL3 and GAL1 protein sequences we attempted to detect galactokinase activity that might be associated with the GAL3 protein. By both in vivo and in vitro tests the GAL3 gene product does not appear to catalyze a galactokinase-like reaction. In complementary experiments, Escherichia coli galactokinase expressed in yeast was shown to complement the gal1 but not the gal3 mutation. Thus, the complementation activity provided by GAL1 is not likely due to galactokinase activity, but rather due to a distinct GAL3-like activity. Overall, the results indicate that GAL1 encodes a bifunctional protein. In related experiments we tested for function of the LTA induction pathway in gal3 cells deficient for other gene functions. It has been known for some time that gal3gal1, gal3gal7, gal3gal10, and gal3 rho- are incapable of induction. We constructed isogenic haploid strains bearing the gal3 mutation in combination with either gal15 or pgi1 mutations: the gal15 and pgi1 blocks are not specific for the galactose pathway in contrast to the gal1, gal7 and gal10 blocks. The gal3gal5 and gal3pgi1 double mutants were not inducible, whereas both the gal5 and pgi1 single mutants were inducible. We conclude that, in addition to the GAL3-like activity of GAL1, functions beyond the galactose-specific GAL1, GAL7 and GAL10 enzymes are required for the LTA induction pathway.
ret1-1, a yeast mutant affecting transcription termination by RNA polymerase III.
Authors: James P , Hall B D 
Published: April 2021

Abstract
In eukaryotes, extended tracts of T residues are known to signal the termination of RNA polymerase III transcription. However, it is not understood how the transcription complex interacts with this signal. We have developed a selection system in yeast that uses ochre suppressors weakened by altered transcription termination signals to identify mutations in the proteins involved in termination of transcription by RNA polymerase III. Over 7600 suppression-plus yeast mutants were selected and screened, leading to the identification of one whose effect is mediated transcriptionally. The ret1-1 mutation arose in conjunction with multiple rare events, including uninduced sporulation, gene amplification, and mutation. In vitro transcription extracts from ret1-1 cells terminate less efficiently at weak transcription termination signals than those from RET1 cells, using a variety of tRNA templates. In vivo this reduced termination efficiency can lead to either an increase or a further decrease in suppressor strength, depending on the location of the altered termination signal present in the suppressor tRNA gene. Fractionation of in vitro transcription extracts and purification of RNA polymerase III has shown that the mutant effect is mediated by highly purified polymerase in a reconstituted system.
An unusual Y chromosome of Drosophila simulans carrying amplified rDNA spacer without rRNA genes.
Authors: Lohe A R , Roberts P A 
Published: April 2021

Abstract
The X and Y chromosomes of Drosophila melanogaster each contain a cluster of several hundred ribosomal RNA genes (rDNA). A nontranscribed spacer region separates adjacent rRNA genes and contains tandem copies of 240 bp repeats that include the initiation site for RNA polymerase I transcription. We show here that Drosophila simulans, a sibling species of D. melanogaster, contains few, if any, rRNA genes on its Y chromosome but carries instead a large block (3,000 kb or 12,500 copies) of 240 bp nontranscribed spacer repeats. The repeats are located at the tip of the long arm of the simulans Y chromosome, in contrast to their location among rRNA genes on the short arm of the Y chromosome of D. melanogaster. The bobbed mutation in homozygous females of D. melanogaster shortens and thins the bristles, owing to a partial deletion of rRNA genes on the X chromosome. The bristles of bobbed/Y males are normal owing to the presence of a full complement of rRNA genes on the Y chromosome. Peculiarly, in bobbed/Y males of D. simulans the short bristle phenotype does not return to normal but is enhanced by the presence of the Y chromosome. We propose that the 12,500 nontranscribed spacer repeats on the Y chromosome are responsible for this biological effect by competition for a protein factor(s) essential for normal levels of rDNA transcription at the X-linked locus.