Clan Lethals and Inter-Year Allelism in Death Valley DROSOPHILA PSEUDOOBSCURA

A chromosome 2 lethal allelism rate of about 3% was found in the 1974 population of D. pseudoobscura in Death Valley, California. This rate was significantly higher than allelism rates in other Southern California populations. The Death Valley population was sampled again in 1975 and 1977, with allelism rates of 1% and 0.5%, respectively. In 1974, several lethals were in high frequencies (about 1%), a pattern that reappeared in 1975 and 1977. However, none of the lethals in high frequency one year were in high frequency another year; the particular lethal alleles present in this ephemeral population appear to be due to their random presence in the flies which refound the population every winter. The results for the Death Valley population are compared with a Japanese population of D. melanogaster in which lethals in high frequency one year are also in high frequency in succeeding years and with earlier work on chromosome 3 of D. pseudoobscura, which showed a lower lethal frequency and higher allelism rate.     

Genetic load and viability variation in korean natural populations ofDrosophila melanogaster

Summary Natural populations of Drosophila melanogaster from Anyang and Susac (suburbs of Seoul) have been analyzed with respect to viability variation on the second chromosome. Homozygotes as well as random heterozygotes for wild chromosomes were studied. The frequency of lethal factors was about 16 per cent, that of drastics 26 per cent. The average viability of homozygotes was 0.650 including lethal lines and 0.858 for quasinormals; that for random heterozygotes was 1.125. Allelism tests have been performed for the lethals. The allelism rate turned out to be as high as 0.036 and 0.0214, respectively. Using a formula by Nei, the effective population size can be estimated from these data. Korean D. melanogaster populations proved as small as 2000 to 3000 individuals. No correlation between homozygous and heterozygous viabilities could be found. According to these observations, along with the fact that partly big clusters of identic lethals could be found in the allelism tests, it is concluded that in Korean populations quite a large part of the hard genetic load is balanced. The connection between population size, population structure and associative or genuine overdominance is discussed.     

Genetic variation in a semi-natural Drosophila population after a bottleneck I. Lethals,their allelism and effective population size

A semi-natural Drosophila melanogaster population was twice forced through a genetic bottleneck and allowed to recover naturally. In one case additional variation was introduced to the recovering population. The percentage of lethal chromosomes, the level of allelism between these lethals, and the effective population size calculated from the allelism of these lethals all rose sharply in the few generations following each bottleneck, though this was not the case in the very first generation. Thereafter this rise decelerated rapidly and never returned to pre-bottleneck levels. Additional introduced variation had little effect. The reasons for and implications of this pattern have been considered.     

Further genetic studies on the Katsunuma population of Drosophila melanogaster

Changes in the genetic structure of the Katsunuma natural population of Drosophila melanogaster have been examined during the past 35 years. The frequency of recessive lethal genes on the second chromosome once increased from 15% to 30% in the early 1970s, then decreased to about 24% in the late 1970s, and thereafter showed no significant changes. Sterility genes, the frequency of which is always less than the lethals, showed a similar tendency. The SD (segregation distorter) mutant gene disappeared but some others such as rbl (reduced bristle) and bw (brown) persisted in the population. The frequency of inversion-carrying chromosomes gradually decreased in the period, such that the standard chromosome frequency in the second and third chromosomes increased from about 40% to more than 80%. Coincident with these frequency changes is the invasion of a transposable element P into the Katsunuma population. The P element should have invaded into Katsunuma in the late 1960s. It spread over the population apparently inducing deleterious mutations, causing the decrease in the allelism rate, and hence increasing the effective population size. Soon, however, most flies became resistant to the P element-mediated transposition as they began to harbor defective P elements. During the course of spreading, the P element must also have induced deleterious mutations on the polymorphic inversions, breaking up the heterotic gene complexes along the chromosomes, which probably caused the reduction in the frequency of inversion chromosomes. Temporal invasion of D. simulans, a sibling species of D. melanogaster, into Katsunuma occurred several times after 1978, and the species seems to have been settled since 1990. This, however, did not have any effect on the genetic structure of D. melanogaster population.     

COLONIZATION OF AMERICA BY DROSOPHILA SUBOBSCURA: LETHAL GENES AND THE PROBLEM OF THE O5 INVERSION

In this work, the process of colonization of North and South America by the species Drosophila subobscura has been studied by analyzing the variability of lethal genes. The genetic structures of a Palearctic natural central population (Bordils, Spain) and a colonizer population from America (Gilroy, California) have been compared. The frequencies of lethal chromosomes and their allelism are 29.007% and 0.0069 in the first population and 14.414% and 0.0526 in the American population. A founder effect is detected after the computation of some population parameters (N_e, h, he and the lethal load). Furthermore, the allelism of lethal chromosomes has revealed a strong association between a lethal gene and the O₅ inversion both in Gilroy and in the population of Puerto Montt (Chile). The interpopulation allelism shows that the O₅ arrangement from the USA and Chile is the same, confirming that the colonizing processes of North and South America are correlated. The O₅ arrangement can also be useful as a genetic marker to trace the origin of the colonization. The frequency of the O₅ arrangement in the original population of the colonization could be used to estimate the number of colonizers. This population is still unknown, but taking the extreme values of the frequency of the O₅ inversion in natural Palearctic populations (1–15%), the number of colonizers could vary between 9 and 149 individuals.     

Genetic load and viability studies in Korean natural populations of Drosophila melanogaster

Further studies about the amount of genetic load in the Korean Anyang and Cheju (Sughipo) Island populations of Drosophila melanogaster were performed. In total 1630 second chromosomes were extracted from the Anyang opulation between 1983 and 1985; 19.0 % of the chromosomes proved lethal, 8.8 % semilethal in homozygous condition. From the island oulation, 504 wild second chromosomes were analysed in 1986; 24.2 % were lethal, 4.6 % subleiaf A slight increase of lethal and semilethal frequencies between 1976 and 1986 can be observed. Mean viabilities of “all homozy-gotes”, “quasinormal-homozygotes”, and “random heterozygotes” were estimated from crossin experiments with marker strains. Random heterozygotes were always more viable than quasinormal homozygotes. An analysis for correlation between random heterozgous and homozygous viabilities gave values significantly different from zero only for the 1985 kyang sample (r =—0.4625, P < 0.01), but no significances could be observed for all other Anyang samples from 1983, 1984, and 1986, respectively. he effective population sizes were estimated to be between 2000 and 6300 individuals for the Anyan and 4200 individuals for the island population, using Nel's formula (1968). It is sugested that baknced natural selection is mainly responsible for the maintenance of genetic load in the Anyang natural populations of D. melanogaster.     

Mutation Induction in the Male Recombination Strains of DROSOPHILA MELANOGASTER

One group of the second chromosome lines isolated from a southern Texas population of Drosophila melanogaster, which has been known to show relatively high frequencies of male recombinations, was found to increase the frequency of sex-linked recessive lethal mutations from a control frequency of 0.18% to 1.63%. The second group, which showed a very much reduced frequency of male recombinations, was found to cause a slight increase to 0.48%, although it was not statistically significant. The first group was also tested for the recessive lethal mutation frequency in the second chromosome; the frequency increased from a control frequency of 0.28% to 2.82%. Mapping of a portion of the sex-linked lethals indicated a distribution along the entire X chromosome, although there was a tendency of clustering towards the tip of the X chromosome. One sex-linked lethal line so far tested was found to be associated with an inversion (approximate breakpoints, 14A-18A). It was suggested that the element causing male recombination might be similar to the hi mutator gene studied earlier by Ives (1950).     

The Frequency and Allelism of Lethal Chromosomes in Isolated Desert Populations of DROSOPHILA PSEUDOOBSCURA

Second-chromosome lethals were extracted from four populations of Drosophila pseudoobscura in Southern California. Two of the populations were from desert oases and two from the classic habitat on Mt. San Jacinto, previously studied by Dobzhansky. Allelism tests were made on the lethals within and between all locations. The frequency of lethal second-chromosomes in each location was 0.18, and this was not different from the results of other workers for samples throughout the species range. Interpopulational allelism rates were about 0.005, and not different from earlier results of Dobzhansky. Intrapopulational rates in this study were, with one exception, the same as the interpopulational rates, and significantly lower than Dobzhansky found using the third chromosome. This may be due to lethals being linked with heterotic third-chromosome inversions. The allelism rate of the exceptional population (about 0.03 and equal to Dobzhansky''s intrapopulational results) may be due to heterotic lethals, or a founder effect. Two lethals were found in three populations each, possibly due to migration among these populations, which are up to 334 km apart.     

Determination of the probable ontogenic time of action of lethal factors on thesecond chromosome of Drosophila melanogaster derived from a natural population

From the study of the genetic load of second chromosome factors in a natural population of Drosophila melanogaster, 15 lethal-bearing strains were recovered and maintained in the laboratory balanced against Ins (2L+2R), Cy, L⁴. For each lethal factor, the probable time of action during development was determined by the appearance of a sharp reduction, at any given stage, in the frequency of individuals compared to that expected in the absence of the lethal factor. Carried out in this way, the analysis suggested that sevne were embryonic lethals, two larval lethals and three pupal lethals. Additionally, three gave no evidence of affecting any of the above-mentioned stages; these are interpreted as gametic lethals.     

Distribution of MR-induced sex-linked recessove lethal mutations in Drosophila melanogaster

In the ‘doubling-dose’ method currently used in genetic risk evaluation, two principle assumptions are made and these are: (1) there is proportionality between spontaneous and induced mutations and (2) the lesions that lead to spontaneous and induced mutations are essentially similar. The studies reported in this paper were directed at examining the validity of these two assumptions in Drosophila. An analysis was made of the distribution of sex-linked recessive lethals induced by MR, one of the well-studied mutator systems in Drosophila.Appropriate genetic complementation tests with 15 defined X-chromosome duplications showed that MR-induced lethals occurred at many sites along the X-chromosome (in contrast to the known locus specificity of MR-induced visible-mutations); some, but not all these sites at which recessive lethals arose in the MR-system are the same as those known to be hot-spots for X-ray-induced lethals. With in situ hybridization we were able to demonstrate that a majority of MR-induced lethals is associated with a particular mobile DNA sequence, the P-element, i.e. they arose as a result of transposition.The differences between the profiles of MR-induced and X-ray-induced recessive lethals, and the nature of MR-induced and X-ray-induced mutations, thus raise questions about the validity of the assumptions involved in the use of the ‘doubling-dose’ method.     

The genetic conditions in heterozygous and homozygous populations of Drosophila. II. X-ray induced lethals in a homozygous and a heterozygous population

Strains of Drosophila melanogaster were made isogenic for their second chromosomes by means of the marker strain LCy/Pm. One of these strains was used as a founder for a homozygous experimental population (W). All other strains were mixed and established a heterozygous population (LKW). Both populations were free of lethals in the beginning with respect to their second chromosomes. After they had been exposed to an X-ray irradiation of 7000 r they contained about 26 per cent newly induced lethal chromosomes. Whereas in the heterozygous population the lethal frequency decreased rather fast to 10 per cent, that of the homozygous population remained rather constant at 25 per cent during a period of 135 days. After a year of continuation, however, both populations reached the same lethal frequency of about 10 per cent. Allelism tests carried out after 10 generations revealed that there was a highly heterotic lethal factor in the homozygous population. After excluding this heterotic lethal from the calculations, the lethal frequencies of the two populations remained significantly different. It was assumed that the relative mean fitness of lethal heterozygotes was generally higher in the homo-than in the heterozygous populations. The results indicate that homozygous populations are much more capable of incorporation new mutations than heterozygous.     

A STRUCTURED COALESCENT PROCESS FOR SEASONALLY FLUCTUATING POPULATIONS

Many short‐lived organisms pass through several generations during favorable growing seasons, separated by inhospitable periods during which only small hibernating or estivating refugia remain. This induces pronounced seasonal fluctuations in population size and metapopulation structure. The first generations in the growing season will be characterized by small, relatively isolated demes whereas the later generations will experience larger deme sizes with more extensive gene flow. Fluctuations of this sort can induce changes in the amount of genetic variation in early season samples compared to late season samples, a classical example being the observations of seasonal variation in allelism in New England Drosophila populations by P.T. Ives. In this article, we study the properties of a structured coalescent process under seasonal fluctuations using numerical analysis of exact state equations, analytical approximations that rely on a separation of timescales between intrademic versus interdemic processes, and individual‐based simulations. We show that although an increase in genetic variation during each favorable growing season is observed, it is not as pronounced as in the empirical observations. This suggests that some of the temporal patterns of variation seen by Ives may be due to selection against deleterious lethals rather than neutral processes.     

Accumulation of lethals in highly selected lines of Drosophila melanogaster

Summary Four synthetic lines of D. melanogaster selected for low sternopleural bristle number for 50 generations were screened for lethals on chromosome III when their mean score equalled 2.5. Each line originated from a cross between line M (previously selected for the same trait during 130 generations) and a different unselected cage population. Line M was already known to carry a recessive lethal on chromosome III affecting the selected trait, such that the bristle score of the lethal heterozygote was lower than that of the viable homozygote. Tests revealed 18 lethals, 15 of these present in at least two lines. Each line carried from 10 to 16 lethals. All lines carried groups of lethals present on the same chromosome, and at least six lethals in each line were included in such an association with a frequency of 0.18 or higher. It appears that the lethal affecting bristle score in line M has protected a segment of chromosome III from natural selection and that the remaining 14 lethals have accumulated later in that line.     

Effects of different base populations on selection response in Drosophila

Oregon‐R, +3, and crossbred strains of Drosophila melanogaster were tested for their response to selection for abdominal bristle number. Various subsidiary tests, consisting of heritability estimations, testing for lethal second and third chromosomes, and chromosome assays were conducted on the selection replicates, which had undergone 14 generations of selection. Evidence showed that a plateau which occurred very early in the +3 high selection replicates was due to fixation of a few additive genes with large effects, thus accounting for the low phenotypic and additive genetic variance, the slight regression in abdominal bristle number on relaxation of selection, the absence of directional dominance, and the low frequency of recessive lethals.

High frequencies of second and third chromosome lethals were found in the Oregon‐R high and low replicates and in the +3 low replicates. That these lethals were not selected for heterozygote superiority for extreme bristle effect was indicated by the slight regression of these replicates on relaxation of selection, and by the absence of high, fluctuating phenotypic variances.

From chromosome assays it appears that the two parental strains had different arrays of genes affecting high bristle number, with these genes located mostly in chromosome II in the Oregon‐R high line but in chromosome III in the +3 high line. In the Crossbred high line, high bristle factors were located in both the second and third chromosomes. The low bristle factors were located mainly in the second chromosome in all three low selection lines.

It appears that the original cross had combined different genes favouring high bristle number, thus allowing greater response in the Crossbred high selection line. The same did not occur for low selection; the response from the Crossbred low line was similar to that of the parental low lines, suggesting that the gene arrays affecting low bristle number in the two original populations were comparable.     

Analyses of genetic change-over in Drosophila populations

Genetic change-overs in Drosophila populations similar to those frequently observed in microbial ones maintained in chemostats are described. In two cases, the change-overs were revealed by an abrupt and sustained increase in the probability that two independently sampled lethal chromosomes proved to be allelic. These favored lethals (or closely linked non-lethal elements) were estimated to have fitnesses 1.30–1.35 in combination with “ordinary” lethals or 1.05–1.10 in combination with non-lethal chromosomes (fitness 1.00 is assigned to carriers of non-lethal chromosomes only). A decrease in the frequency of lethal chromosomes in a third population was adequately explained by postulating the origin of a non-lethal “favored” element whose relative fitness was 1.25, a value similar to those estimated above. Genetic change-over in populations is discussed in relation to biochemical and morphological conservatism.     

Analysis of lethals in selected lines of Drosophila melanogaster

Summary Five lines of Drosophila melanogaster that reached an extreme phenotype after long-term selection for increased dorsocentral bristle number, were analysed for the presence of lethals. Seven chromosome II and three chromosome III lethal types were detected in four of the lines, at frequencies ranging from between 6% and 36%. No lethal had any demonstrable effect over the selected trait. In one line, where almost every chromosome II was a lethal carrier, it was shown that the main lethal (at a frequency of 36%) was associated with the transmission ratio distortion in males. The processes which could lead to the accumulation of this lethal and others linked in disequilibrium to it is discussed. Some results suggest similar mechanisms for the accumulation of lethals in the other lines. These findings show that causes other than the direct effect of artificial selection must be taken into account when trying to explain the accumulation of lethals in selected lines.     

Colonization of America by Drosophila subobscura: spatial and temporal lethal-gene allelism

About twenty years ago Drosophila subobscura, a western Palearctic species, colonized both North and South America. Lethal genes in the O chromosome has been subject to much research. Lethal gene allelisms between American populations far away have been studied. These allelisms were not negligible, but all cases were due to the lethal gene completely associated to the O5 chromosomal inversion. Here we analyze the lethal genes in a new American population of D. subobscura (Centralia, Washington), located fairly close to a previously studied population (Bellingham, Washington) and separated in space and time with other American populations (Gilroy I and II in California and Santiago de Chile). The frequencies of lethal and semilethal genes of Centralia were 16.9+/-4.6 and 6.2+/-3.0, respectively. The intrapopulational allelism of Centralia was 0.122+/-0.036. Interpopulational allelisms were studied using the lethal genes from the populations separated in space and time from Centralia. The interpopulational allelisms between Centralia and Gilroy I (California) and between Centralia and Bellingham (Washington) were higher than the intrapopulational allelism (0.155+/-0.032 and 0.153+/-0.024, respectively). In all these cases allelism was due to a complete association between a lethal gene and the O5 chromosomal inversion. Accordingly, no other lethal genes are shared in these populations.     

Genetic Analysis of Recessive Lethal Mutations Induced by the Influenza Virus in the X Chromosome of Drosophila melanogaster

Mutagenic potential of the influenza virus was evaluated. Based on its capacity of inducing recessive lethal mutations in the X chromosome of Drosophila melanogaster, the influenza virus can be classified as a moderate-activity mutagen. Its mutagenicity does not depend on ability to reproduce in the cell system. This virus was shown to disrupt formation of the wing, particularly wing vein M_{1 + 2}. Cytogenetic examination of polytene X chromosomes bearing recessive lethal mutations in Drosophilasalivary glands did not reveal chromosome rearrangements. These lethals are assumed to be small deletions or point mutations. The determination of the lethal activity stage of these mutations showed that they disrupt the expression of genes functioning at various developmental stages of Drosophila.Two of them were conditionally lethal (temperature-sensitive). Two of 15 mutations analyzed were mapped to region 2B9-10–3C10-11.     

Analysis of an SD second chromosome from a natural population of Drosophila melanogaster

The second chromosome Co-122 (Corato-122) extracted from a natural population of Drosophila melanogaster caught in Corato (Apulia) and maintained in the laboratory over the SM5 balancer chromosome, proved to carry: (1) a Segregation distorter factor, named Sd ^Co; (2) a recessive lethal mutation, termed mle-Co (maleless-Corato), which causes the lethality of only males; (3) another recessive lethal mutation, l(2)Co (lethal (2) Corato), probably arisen in the laboratory by mutation. This mutation accounts for the diminished recovery of homozygous females observed in the stock.The genetic features and the cytological analysis of the SD chromosome are reported, as well as the genetic localization of mle-Co and 1(2)Co and their cytogenetic mapping. An allelism test has ascertained that mle-Co is allelic to mle, a male-specific mutation described by Fukunaga et al., 1975. The tight linkage of mle-Co and 1(2)Co with Sd is discussed from the standpoint of population genetics.     

Heterozygous effects on viability of Drosophila supergenes that are lethal when homozygous

Eight fourth chromosomes which were homozygous lethal and 170 which were homozygous nonlethal were extracted from the same Drosophila melanogaster cage. The lethals were complementary, i.e., they were viable in all 28 nonreflexive pairwise combinations. Three different lethals produced sterile homozygotes; these are called leaky lethals. Different lethal heterozygotes' viabilities were compared by means of paired-t tests. The difference in mean relative viabilities between a pair of genotypes containing different lethals but exactly the same nonlethal was treated as one observation. The mean difference for any pair of lethals was based on only part of the full array of nonlethals. Of 17 possible paired comparisons, nine were statistically significant. In eight out of ten possible pairs and in six out of seven significant pairs, the heterozygous viability of leaky lethals was less than that of absolute (nonleaky) lethals. There was no association between stage of homozygous lethal action and heterozygous viability effect. In general, different lethals had different heterozygous effects on viability. The results are summarized in Table 5. In memoriam David Walter Kenyon (1939–1972)Research supported by The National Science Foundation of the United States (GB-3759).