bluuebunny/crossref_metadata_2025_split huggingface dataset:
POLYMORPHIC SITES AND THE MECHANISM OF EVOLUTION IN HUMAN MITOCHONDRIAL DNA
Authors: Cann Rebecca L , Brown Wesley M , Wilson Allan C 
Published: January 2021

ABSTRACT
Twelve restriction enzymes were used to screen for the presence or absence of cleavage sites at 441 locations in the mitochondrial DNA of 112 humans from four continents. Cleavage maps were constructed by comparison of DNA fragment sizes with those expected from the published sequence for one human mtDNA. One hundred and sixty-three of the sites were polymorphic, i.e., present in some individuals but absent from others, 278 sites being invariant. These polymorphisms probably result from single base substitutions and occur in all functional regions of the genome.—In 77 cases, it was possible to specify the exact nature and location (within a restriction site) of the mutation responsible for the absence of a restriction site in a known human mtDNA sequence and its presence in another human mtDNA. Fifty-two of these 77 gain mutations occur in genes coding for proteins, 34 being silent and 18 causing amino acid replacements; moreover, nine of the replacements are radical.—Notable also is the anomalous ratio of transitions to transversions required to account for these 77 restriction site differences between the known human mtDNA sequences and other human mtDNAs. This ratio is lower for most groups of restriction sites than has been reported from sequence comparisons of limited parts of the mtDNA genome in closely related mammals, perhaps indicating a special functional role or sensitivity to mutagenesis for palindromic regions containing high levels of guanine and cytosine.—From the genomic distribution of the 163 polymorphic sites, it is inferred that the level of point mutational variability in tRNA and rRNA genes is nearly as high as in protein-coding genes but lower than in noncoding mtDNA. Thus, the functional constraints operating on components of the protein-synthetic apparatus may be lower for mitochondria than for other systems. Furthermore, the mitochondrial genes for tRNAs that recognize four codons are more variable than those recognizing only two codons.—Among the more variable of the human mitochondrial genes coding for proteins is that for subunit 2 of cytochrome oxidase; this polypeptide appears to have been evolving about five times faster in primates than in other mammals. Cytochrome c, a nuclearly encoded protein that interacts directly with the oxidase 2 subunit in electron transport, has also evolved faster in primates than in rodents or ungulates. This example, along with that for the mitochondrial rRNA genes and the nuclear genes coding for mitochondrial ribosomal proteins, provides evidence for coevolution between specific nuclear and mitochondrial genes.
CONTROL OF ANTHOCYANIN SYNTHESIS IN PETUNIA HYBRIDA BY MULTIPLE ALLELIC SERIES OF THE GENES An1 AND An2
Authors: Gerats Anton G M , Farcy Eliane , Wallroth Marco , Groot Steven P C , Schram André 
Published: January 2021

ABSTRACT
A mutable allele of the An1 locus in Petunia hybrida has given rise to a multiple series of stable derivative alleles. Anthocyanin concentration in mature flowers of these mutants (an1 +/p/an1) decreases from the wild-type red to the recessive white in a continuous series. Anthocyanin composition changes regularly: the ratio of peonidin to cyanidin is 3.5 for an an1 +/+/an1 and 1.2 for an an1 +/p5/an1 mutant. Analysis of anthocyanins during flower development indicates that these differences in composition are due to the specific state of the An1 locus and not to anthocyanin concentration. Anthocyanin concentration in flowers of the allelic series for An1 correlates with the activity of the enzymes UDP-glucose: flavonoid-3-O-glucosyltransferase and SAM: anthocyanin-3′-O-methyltransferase. The same correlations were found for members of a comparable allelic series at the An2 locus. The possibility that the correlation between the enzyme activities is due to the occurrence of a multienzyme complex is discussed.
POPULATION GENETICS OF DROSOPHILA AMYLASE. V. GENETIC BACKGROUND AND SELECTION ON DIFFERENT CARBOHYDRATES
Authors: Powell Jeffrey R , Amato George D 
Published: January 2021

ABSTRACT
Frequency changes in amylase allozymes and patterns of tissue-specific expression of amylase have been monitored in laboratory populations of Drosophila pseudoobscura maintained on media in which the only carbohydrate source was maltose or starch. Nonrandom changes occurred in patterns of expression, whereas no patterns in allozyme frequency changes were discernible. The nature of the pattern changes was similar to an identical study done on populations derived from a natural population several hundred miles from the population used in the present experiments. However, in the previous study nonrandom changes in allozyme frequencies were also noted. Evidently, selection on the Drosophila amylase system differs depending upon the genetic background of the population. Furthermore, the evolutionary dynamics of structural gene variants and those regions controlling its expression may be independent, a result consistent with DNA sequence data.
ANALYSIS OF DYSGENESIS-INDUCED LETHAL MUTATIONS ON THE X CHROMOSOME OF A Q STRAIN OF DROSOPHILA MELANOGASTER
Authors: Simmons Michael J , Raymond John D , Culbert Timothy P , Laverty Todd R 
Published: January 2021

ABSTRACT
The Q strain known as v 6 was tested for its ability to induce X-linked lethal mutations in male and female hybrids from crosses with M strains in the P-M system of hybrid dysgenesis. All measurements of the mutation rate were made on the X chromosome derived from the v 6 strain. The lethal rate for young hybrid males from the cross M female x v 6 male was 1.11% per chromosome. For older males, it was only 0.44%, suggesting that there is less mutational or more repair activity in the germ cells of the older males or that mutant cells are selectively eliminated as the hybrid males age. The lethal rate for hybrid females from comparable crosses was approximately the same for both ages that were tested. However, it was substantially less than the rate for the hybrid males—only 0.26% per chromosome. Genetically identical hybrid females from reciprocal crosses also showed a low mutation rate, 0.13% per chromosome. Again, there was no difference between young and old flies.—Mapping experiments established that most of the lethal mutations that were recovered from the male and female hybrids were located in two regions on the X chromosome, one between bands 14B13 and 15A9, the other between bands 19A1 and 20A, which encompasses the maroonlike locus. More refined mapping of the lethals in the maroonlike region demonstrated that the vast majority of these affected a single gene located in band 19C4. Cytological analysis of the lethal chromosomes revealed that several carried rearrangements, including inversions, duplications and deficiencies. Chromosome breakage occurred primarily in bands 14D1-3 and 18F-20A, and most of the breaks in the latter segment were located in 19C. However, rearrangements involving 19C and mutations of the gene in 19C4 were mutually exclusive events. In situ hybridization of a P element probe to the chromosomes of v 6 demonstrated that P elements reside at a minimum of five sites on the X chromosome. These P element sites correspond to the mutational and breakage hot spots on that chromosome. The combined genetic and cytological data imply that most of the X-linked lethal mutations that occur in M × v 6 hybrids are due to local P element action. Consideration of these and other data suggest that v 6 is a weak P strain in the P-M system of hybrid dysgenesis and that other Q strains might also be regarded in this way.
GENETIC CONTROL OF L-A AND L-(BC) dsRNA COPY NUMBER IN KILLER SYSTEMS OF SACCHAROMYCES CEREVISIAE
Authors: Ball Steven G , Tirtiaux Catherine , Wickner Reed B 
Published: January 2021

ABSTRACT
M dsRNA in yeast encodes a toxin precursor and immunity protein, whereas L-A dsRNA encodes the 81,000-dalton major protein of the intracellular particles in which both L-A and M are found. L-(BC) dsRNA(s) are found in particles with different coat proteins. We find that M dsRNA lowers the copy number of L-A, but not L-(BC). The SKI gene products lower the copy number of L-(BC), L-A, M1 and M2. This is the first known interaction of L-(BC) with any element of the killer systems. The MAK3, MAK10 and PET18 gene products are necessary for L-A maintenance and replication, but mutations in these genes do not affect L-(BC) copy number. Mutations in MAK1, MAK4, MAK7, MAK17 and MAK24 do not detectably affect copy number of L-(BC) or L-A.
GENOTYPIC CORRELATION AND REGRESSION IN SOCIAL GROUPS: MULTIPLE ALLELES, MULTIPLE LOCI AND SUBDIVIDED POPULATIONS
Authors: Pamilo Pekka 
Published: January 2021

ABSTRACT
Genotypic correlations and regressions can be estimated from multiallelic data sets either by weighting the allelic effects additively or by specifically weighting the genotypic interactions. Both methods can be extended to multiple loci, but they do not fully take into account the joint segregation patterns at the loci. These genotypic statistics have a great importance in sociobiological contexts, as they can be used for genetic descriptions of social structures. In this paper I examine the two estimation methods and show how the genotypic correlation and regression coefficients from genotypic interactions are connected to other statistics of standard population genetics; special emphasis is given to the sample-size correction when intracolony correlations from small samples were estimated. I also show how genotypic correlation and regression can be estimated in subdivided populations, both in continuous populations with isolation by distance and in populations divided into separate subpopulations. The latter analysis is an example of a more general hierarchic correlation analysis.
CYTOGENETIC MAPPING OF ENZYME LOCI ON CHROMOSOMES J AND U OF DROSOPHILA SUBOBSCURA
Authors: Pinsker W , Sperlich D 
Published: January 2021

ABSTRACT
Enzyme loci located on chromosome J and U were mapped cytologically by means of a Y translocation technique. A linkage map of the two chromosomes was established in a parallel experiment and the recombination frequency in different regions of the chromosomes determined. A comparison of the cytogenetic localization of the enzyme genes in D. subobscura and D. melanogaster indicates that many paracentric inversions must have taken place in the course of divergent evolution. However, no displacements of genes from one element to another due to pericentric inversions, reciprocal translocations or transposing elements can be observed. In spite of the large number of structural rearrangements that have occurred in the phylogeny of the genus Drosophila, gross similarities of banding pattern in homologous regions of the chromosomes of the two species become apparent.
MISMATCH REPAIR MUTATIONS OF ESCHERICHIA COLI K12 ENHANCE TRANSPOSON EXCISION
Authors: Lundblad Victoria , Kleckner Nancy 
Published: January 2021

ABSTRACT
Excision of the prokaryotic transposon Tn 10 is a host-mediated process that occurs in the absence of recA function or any transposon-encoded functions. To determine which host functions might play a role in transposon excision, we have isolated 40 mutants of E. coli K12, designated tex, which increase the frequency of Tn 10 precise excision. Three of these mutations (texA) have been shown to qualitatively alter RecBC function. We show that 21 additional tex mutations with a mutator phenotype map to five genes previously identified as components of a methylation-directed pathway for repair of base pair mismatches: uvrD, mutH, mutL, mutS and dam. Previously identified alleles of these genes also have a Tex phenotype.—Several other E. coli mutations affecting related functions have been analyzed for their effects on Tn10 excision. Other mutations affecting the frequency of spontaneous mutations (mutT, polA, ung), different excision repair pathways (uvrA, uvrB) or the state of DNA methylation (dcm) have no effect on Tn 10 excision. Mutations ssb-113 and mutD5, however, do increase Tn 10 excision.—The products of the mismatch correction genes probably function in a coordinated way during DNA repair in vivo. Thus, mutations in these genes might also enhance transposon excision by a single general mechanism. Alternatively, since mutations in each gene have qualitatively and quantitatively different effects on transposon excision, defects in different mismatch repair genes may enhance excision by different mechanisms.
CIRCADIAN RHYTHMS IN NEUROSPORA CRASSA: INTERACTIONS BETWEEN CLOCK MUTATIONS
Authors: Lakin-Thomas Patricia L , Brody Stuart 
Published: January 2021

ABSTRACT
Mutations at four loci in Neurospora crassa that alter the period of the circadian rhythm have been used to construct a series of double mutant strains in order to detect interactions between these mutations. Strains carrying mutations at three of these loci have altered periods on minimal media: prd-1, several alleles at the olir (oligomycin resistance) locus and four alleles at the frq locus. A mutation at the fourth locus, cel, which results in a defect in fatty acid synthesis, also leads to lengthening of the period when the medium is supplemented with linoleic acid (18:2). The cel mutation was crossed into strains carrying the frq, prd-1 and olir mutations, and the periods of the double mutant strains with and without 18:2 supplementation were determined. In addition, data from the literature for other combinations of loci and/or chemical effects on the period have been reanalyzed.—It was found that (1) both prd-1 and olir are epistatic to the effects of 18:2 on cel; (2) in the series of cel frq double mutant strains, the period-lengthening effect of 18:2 is inversely proportional to the period of the frq parent, indicating an interaction between frq and cel; (3) period effects reported in the literature can be described as changes by a fixed ratio or percentage of the period rather than by a fixed number of hours, and the data, therefore, can support a multiplicative as well as an additive model.—Several biochemical interpretations of these interactions are discussed, based on simple chemical kinetics, enzyme inhibition kinetics and the control of flux through metabolic pathways.
TEMPORAL VARIATION OF THE MATING SYSTEM IN A NATURAL POPULATION OF JACK PINE
Authors: Cheliak W M , Dancik B P , Morgan K , Yeh F C H , Strobeck C 
Published: January 2021

ABSTRACT
Mating system parameters of a northern conifer, Pinus banksiana Lamb., were estimated from allozyme polymorphisms. Seeds analyzed were obtained from serotinous cones of 30 individuals and represented four independent fertilizations in 1975, 1976, 1977 and 1978. Results indicated that a mixed mating system model, with a mean effective outcrossing rate of 88 ± 0.047%, described the mating system of this stand. However, there was an approximately linear increase in the apparent selfing rate from the oldest (1975) to the newest (1978) crop. Two hypotheses could account for these observations. First, there may have been changes in the mating system during the 4-yr period, but linearity of the differences observed in this study may have been due to chance. These changes were, however, independent of the variability of the observed pollen pool. This indicated that they were not a result of different proportions of outcrossed zygotes directly observed. Second, there could have been a more or less constant amount of selfing, followed by a differential loss of viability of selfed and outcrossed zygotes during the period of storage in the cones. Under this hypothesis, selfed zygotes are at a selective disadvantage relative to outcrossed zygotes. No differences in the mating system could be demonstrated among the three crown strata of this stand. There was significant interlocus heterogeneity in the filial generation genotypic distributions and in the estimated outcrossing rates, reflecting the complex nature of forces that can affect single-locus estimates. There was evidence of some additional inbreeding, possibly due to family structures in the stand; however, this was a minor component of the total inbreeding.
GENE INTERACTIONS AFFECTING MUSCLE ORGANIZATION IN CAENORHABDITIS ELEGANS
Authors: Brown Susan J , Riddle Donald L 
Published: January 2021

ABSTRACT
Revertants of unc-15(e73)I, a paralyzed mutant with an altered muscle paramyosin, include six dominant and two recessive intragenic unc-15 revertants, two new alleles of the previously identified suppressor gene, sup-3 V, and a new suppressor designated sup-19(m210)V. The recessive intragenic unc-15 revertants exhibit novel alterations in paramyosin paracrystal structure and distribution, and these alterations are modified by interaction with unc-82(e1220)IV, another mutation that affects paramyosin. A strain containing both unc-15 and a mutation in sup-3 V that restores movement was mutagenized, and paralyzed mutants resembling unc-15 were isolated. Twenty mutations that interfere with suppression were divided into three classes (nonmuscle, sus-1, and mutations within sup-3) based on phenotype, genetic map position and dominance. The nonmuscle mutations include dumpy and uncoordinated types that have no obvious direct effect on muscle organization. Two recessive mutations define a new gene, sus-1 III. These mutations modify the unc-15(e73) phenotype to produce a severely paralyzed, dystrophic double mutant that is not suppressed by sup-3. Five semidominant, intragenic sup-3 antisuppressor mutations, one of which occurred spontaneously, restore the wild-type sup-3 phenotype of nonsuppression. However, reversion of these mutants generated no new suppressor alleles of sup-3, suggesting that the sup-3 antisuppressor alleles are not wild type but may be null alleles.
COMPARISON OF SOMATIC REVERSIONS BETWEEN THE IVORY ALLELE AND TRANSPOSON-CAUSED MUTANT ALLELES AT THE WHITE LOCUS OF DROSOPHILA MELANOGASTER AFTER LARVAL TREATMENT WITH X RAYS AND ETHYL METHANESULFONATE
Authors: Ryo Haruko , Yoo Mi Ae , Fujikawa Kazuo , Kondo Sohei 
Published: January 2021

ABSTRACT
Somatic reversion of strains with the ivory (wi) allele, a mutation associated with a tandem duplication of a DNA sequence at the white locus, increased with the age of larvae at the time of X-irradiation as expected from the increase in the number of target cells. In contrast, two independently isolated strains with unstable w + loci associated with insertion of transposable elements showed higher reversion frequencies after treatment with X rays or ethyl methanesulfonate (EMS) at early larval stages than at late stages. Nevertheless, both the wi strain and the two unstable w + strains reverted at nearly equal rates after treatment with X rays or EMS at early larval stages. Possible similarity in "hot spot" structure for the high reversibility of the two types of mutations is discussed in relation to production of presumed "mutator-type" cofactors specific to the transposon-caused mutations at early larval stages.
GENETICS OF FACTORS AFFECTING THE LIFE HISTORY OF DROSOPHILA MELANOGASTER. I. FEMALE PRODUCTIVITY
Authors: Hiraizumi Yuchiro 
Published: January 2021

ABSTRACT
Starting from four basic strains of Drosophila melanogaster, two laboratory strains (cn bw, Tokyo) and two isofemale lines (B-102, B-103) originated from a wild population in Texas, we constructed by repeated backcrosses through females for 20 or more generations a total of 16 strains of all possible combinations between the chromosome sets and cytoplasmic classes. Females from these 16 synthesized strains were then examined for their reproductive performance during their entire life span.—The chromosome set from the cn bw strain was found to associate with the highest female productivity when the age of females was very young, but these females ceased their reproduction and died relatively earlier, resulting in a smaller number of total progeny. The B-102 and B-103 chromosome sets, on the other hand, were associated with the lowest productivity when the females were young, but they lived and continued reproduction longer, resulting in a larger number of total progeny. The Tokyo chromosome set was associated with female productivity intermediate between the other two groups.—Cytoplasmic factors were found to affect the productivity of young females, with the cytoplasm from the cn bw strain associated with the highest productivity. Longevity was not cytoplasmically affected.—There was a clear interaction in female productivity between the Tokyo chromosome set and the cytoplasm from the Texas isofemale lines; the lifetime female productivity, as well as longevity, associated with the Tokyo chromosome set was found to increase considerably when it was substituted into the cytoplasm of the Texas isofemale line. This chromosome-cytoplasm interaction appeared to be independent of the two systems of hybrid dysgenesis.
GENETIC AND PHYSICAL STUDIES OF A PORTION OF THE WHITE LOCUS PARTICIPATING IN TRANSCRIPTIONAL REGULATION AND IN SYNAPSIS-DEPENDENT INTERACTIONS IN DROSOPHILA ADULT TISSUES
Authors: Davison Dan , Chapman Carolyn H , Wedeen Cathy , Bingham Paul M 
Published: January 2021

ABSTRACT
We have identified and sequenced the portion of the white locus affected by an idiosyncratic set of white mutant alleles (the wsp alleles). The affected white locus portion (wsp region) extends from ca. 590 base pairs (bp) to ca. 1270 bp 5' to the apparent start site for the major white transcription unit. Based on the properties of these mutant alleles, we infer the existence of two distinct cis-acting regulatory elements in the wsp region and a third element mapping 3' to this region (3' to position ca. -670). Our analysis allows us to define the apparent position of one of the two wsp region elements with substantial precision. Examination of the DNA sequences in this region suggests that it is functionally similar to the enhancers identified in vertebrates. This same element participates in synapsis-dependent genetic interactions, suggesting a largely unexpected relationship between enhancer-like, cis-acting genetic elements and the genetic elements responsible for the synapsis-dependent genetic interactions in trans revealed by the existence of transvection effects. Our results further suggest that a presumptive regulatory locus (suppressor-of-white-spotted) regulates white transcription in adult tissues and is not involved in regulating white expression in larvae. We discuss the regulation of white expression in light of our studies. We also demonstrate unusual structures for an X-ray-induced deletion and a spontaneous deletion.
HOMOLOGOUS RECOMBINATION BETWEEN AUTONOMOUSLY REPLICATING PLASMIDS IN MAMMALIAN CELLS
Authors: Ayares David , Spencer James , Schwartz Faina , Morse Brian , Kucherlapati Raju 
Published: January 2021

ABSTRACT
The ability of autonomously replicating plasmids to recombine in mammalian cells was investigated. Two deletion plasmids of the eukaryotic-prokaryotic shuttle vector pSV2neo were cotransfected into transformed monkey COS cells. Examination of the low molecular weight DNA isolated after 48 hr of incubation revealed that recombination between the plasmids had occurred. The DNA was also used to transform recA- E. coli. Yield of neo R colonies signified homologous recombination. Examination of the plasmid DNA from these colonies confirmed this view. Double-strand breaks in one or both of the input plasmids at the sites of deletion resulted in an enhancement of recombination frequency. The recombination process yielded monomeric and dimeric molecules. Examination of these molecules revealed that reciprocal recombination as well as gene conversion events were involved in the generation of plasmids bearing an intact neo gene. The COS cell system we describe is analogous to study of bacteriophage recombination and yeast random-spore analysis.