Showing papers in "Genetics Research in 1991"

Inbreeding coefficients and coalescence times

Abstract: This paper describes the relationship between probabilities of identity by descent and the distribution of coalescence times. By using the relationship between coalescence times and identity probabilities, it is possible to extend existing results for inbreeding coefficients in regular systems of mating to find the distribution of coalescence times and the mean coalescence times. It is also possible to express Sewall Wright's FST as the ratio of average coalescence times of different pairs of genes. That simplifies the analysis of models of subdivided populations because the average coalescence time can be found by computing separately the time it takes for two genes to enter a single subpopulation and time it takes for two genes in the same subpopulation to coalesce. The first time depends only on the migration matrix and the second time depends only on the total number of individuals in the population. This approach is used to find FST in the finite island model and in one- and two-dimensional stepping-stone models. It is also used to find the rate of approach of FST to its equilibrium value. These results are discussed in terms of different measures of genetic distance. It is proposed that, for the purposes of describing the amount of gene flow among local populations, the effective migration rate between pairs of local populations, M, which is the migration rate that would be estimated for those two populations if they were actually in an island model, provides a simple and useful measure of genetic similarity that can be defined for either allozyme or DNA sequence data.

Multilocus models of inbreeding depression with synergistic selection and partial self-fertilization

Abstract: Mean fitness and inbreeding depression values in multi-locus models of the control of fitness were studied, using both a model of mutation to deleterious alleles, and a model of heterozygote advantage. Synergistic fitness interactions between loci were assumed, to find out if this more biologically plausible model altered the conclusions we obtained previously using a model of multiplicative interactions. Systems of unlinked loci were assumed. We used deterministic computer calculations, and approximations based on normal or Poisson theory. These approximations gave good agreement with the exact results for some regions of the parameter space. In the mutational model, we found that the effect of synergism was to lower the number of mutant alleles per individual, and thus to increase the mean fitness, compared with the multiplicative case. Inbreeding depression, however, was increased. Similar effects on mean fitness and inbreeding depression were found for the case of heterozygote advantage. For that model, the results were qualitatively similar to those previously obtained assuming multiplicativity. With the mutational load model, however, the mean fitness sometimes decreased, and the inbreeding depression increased, at high selfing rates, after declining as the selfing rate increased from zero. We also studied the behaviour of modifier alleles that changed the selfing rate, introduced into equilibrium populations. In general, the results were similar to those with the multiplicative model, but in some cases an ESS selfing rate, with selfing slightly below one, existed. Finally, we derive an approximate expression for the inbreeding depression in completely selfing populations. This depends only on the mutation rate and the dominance coefficient and can therefore be used to obtain estimates of the mutation rate to mildly deleterious alleles for plant species.

An increased level of sperm abnormalities in mice with a partial deletion of the Y chromosome.

Abstract: Two congenic lines of mice, one with a partial deletion of the Y chromosome, differ in the percentage of spermatozoa with abnormal heads: B10.BR/SgSn males give 22·6%; and B10.BR-Ydel/Ms males give 64·2%; abnormal sperm. The F1s resulting from crosses of B10.BR/SgSn males with females of five common inbred strains exhibited significantly lower levels of abnormal sperm than the parental strains, as opposed to F1 hybrids sired by B10.BR-Ydel/Ms mutant males, where very high levels of abnormal spermatozoa were found. About 30%; of abnormal spermatozoa, produced by males with deletion on the Y chromosome, were characterized by a flat acrosomal cap. This class of abnormality was never observed in non-mutant males, suggesting a mutant-specific defect. These results demonstrate the important role of the Y chromosome in spermatogenesis.

The apparent selection on neutral marker loci in partially inbreeding populations

Abstract: Deterministic computer calculations were used to investigate the effects on the fitnesses of genotypes at neutral loci that are caused by associations with several linked or unlinked selected loci, in partially self fertilizing populations. Both mutation to partially recessive alleles and heterozygote advantage at the selected loci were studied. In the heterozygote advantage models, either arbitrary linkage between all loci was modelled, with a single neutral locus, or many unlinked selected and neutral loci were modelled. Large apparent overdominance could be generated in all types of model studied. As has previously been suggested, these types of effect can explain the observed associations between fitness and heterozygosity in partially inbreeding populations. There were also apparent fitness differences between the genotypes at the neutral locus among the progeny produced by selfing, especially with linkage between the neutral and selected loci. There is thus no genotype-independent fitness value for these progeny. Marker based methods for estimating the relative fitness of selfed and outcrossed progeny assume equality of these fitnesses, and will therefore be inaccurate (with in most cases a bias towards overestimating the degree of inbreeding depression) when there is linkage between the neutral marker loci and loci determining fitness.

Genetics of morphological differences and hybrid sterility between Drosophila sechellia and its relatives.

Abstract: We conducted classical genetic analysis of the difference in male genitalia and hybrid sterility between the island-dwelling sibling species Drosophila sechellia and D. mauritiana. At least two loci (one on each autosome) are responsible for the genital difference, with the X chromosome having no significant effect. In contrast, male hybrid sterility is caused by at least four gene loci distributed among all major chromosomes, with those on the X chromosome having the largest effect. We also show that the large difference in ovariole number between D. sechellia and its mainland relative D. simulans is due to at least two gene substitutions, one on each major autosome. The X and the left arm of the second chromosome, however, have no significant effect on the character. This implies that the evolution of reduced ovariole number involved relatively few gene substitutions. These results extend previous findings that morphological differences between Drosophila species are caused by genes distributed among all chromosomes, while hybrid sterility and inviability are due primarily to X-linked genes. Because strong X-effects on male sterility have been found in all three pairwise hybridizations among D. simulans, D. sechellia and D. mauritiana, these effects must have evolved at least twice independently.

Sandy: a new mouse model for platelet storage pool deficiency.

Abstract: Sandy (sdy) is a mouse mutant with diluted pigmentation which recently arose in the DBA/2J strain. Genetic tests indicate it is caused by an autosomal recessive mutation on mouse Chromosome 13 near the cr and Xt genetic loci. This mutation is different genetically and hematologically from previously described mouse pigment mutations with storage pool deficiency (SPD). The sandy mutant has diluted pigmentation in both eyes and fur, is fully viable and has prolonged bleeding times. Platelet serotonin levels are extremely low although ATP dependent acidification activity of platelet organelles appears normal. Also, platelet dense granules are extremely reduced in number when analysed by electron microscopy of unfixed platelets. Platelets have abnormal uptake and flashing of the fluorescent dye mepacrine. Secretion of lysosomal enzymes from kidney and from thrombin-stimulated platelets is depressed 2- and 3-fold, and ceroid pigment is present in kidney. Sandy platelets have a reduced rate of aggregation induced by collagen. The sandy mutant has an unusually severe dense granule defect and thus may be an appropriate model for cases of human Hermansky-Pudlak syndrome with similarly extreme types of SPD. It represents the tenth example of a mouse mutant with simultaneous defects in melanosomes, lysosomes and/or platelet dense granules.

Gene mapping and cross-resistance in cyclodiene insecticide-resistant Drosophila melanogaster (Mg.)

Abstract: Resistance to the cyclodiene insecticide dieldrin maps to a single gene (Rdl) on the left arm of chromosome III in Drosophila melanogaster (Meigen). The gene was further mapped by the use of chromosomal deficiencies to a single letter sub-region, 66F, on the polytene chromosome. The cross-resistance spectrum of a backcrossed strain lacking elevated mixed function oxidase activity, a common resistance mechanism, was examined. Levels of resistance similar to those found in other insects were found to dieldrin, aldrin, endrin, lindane, and picrotoxinin. Strong similarity of this single major gene with that found in other cyclodiene resistant insects is suggested by its cross-resistance spectrum and chromosomal location, via homology with other Diptera. The significance of major genes in insecticide resistance is discussed.

Mixed model analysis of a selection experiment for food intake in mice.

Abstract: Data from 23 generations of mice selected for increased and reduced appetite were analysed by Restricted Maximum Likelihood fitting an animal model with litters as additional random effects. Traits considered were food intake between 4 and 6 weeks of age adjusted for 4-week body weight (AFI), the selection criterion, and body weight at 6 weeks (6WW). Selection was carried out within families. A high and a low selection line and a control were maintained in each of three replicates. Analyses were performed for each replicate separately taking subsets of the data spanning different numbers of generations. Overall estimates of heritabilities were 0.15 for AFI, which agreed well with realized heritability estimates, and 0.42 for 6WW. The litter variance, expressed as a proportion of the phenotypic variance, was 0.21 for both traits, yielding intraclass correlations of full-sibs of 0.29 and 0.42, respectively. Similar results were obtained for variances of each trait using univariate and multivariate analyses. From the latter, estimates of correlations between the two traits were 0.46 for additive genetic, -0.19 for litter and 0.31 for residual effects, resulting in a phenotypic correlation of 0.23. Analyses of data from generations 2-7, 8-13 and 14-23 separately showed a marked decrease in genetic variance and heritability in later generations for both traits. Heritabilities of AFI, for instance, were 0.24, 0.10 and 0.07, respectively. These changes could not be attributed to the effects of inbreeding or of selection in an infinitesimal model and suggested that some change in variance due to change in gene frequency had occurred during the course of the experiment.

Differential susceptibility to a trematode parasite among genotypes of the Mytilus edulis/galloprovincialis complex.

Abstract: We show that parasitism by the trematode Prosorhynchus squamatus in parental and introgressed Mytilus edulis/galloprovincialis (Bivalvia) mussels occurs in individuals with a predominantly M. edulis genome. This result suggests that the restricted specificity of P. squamatus is dependent on genetic factor(s) present in M. edulis. Because of its strong pathogenic effects (i.e. total castration and possible death), this parasite may be a source of intense selection against M. edulis genomes when they are present in a site. As a consequence, it may favour the geographic extension of the M. galloprovincialis genome. Previous studies have indicated that, in hybrid zones, recombinant genotypes are more susceptible to parasitic infections than either parental genotype. We demonstrate that this is not the case for the M. edulis/M. galloprovincialis system, and that the parental genotype alone determines susceptibility.

The coalescent process in models with selection, recombination and geographic subdivision.

Abstract: A population genetic model with a single locus at which balancing selection acts and many linked loci at which neutral mutations can occur is analysed using the coalescent approach. The model incorporates geographic subdivision with migration, as well as mutation, recombination, and genetic drift of neutral variation. It is found that geographic subdivision can affect genetic variation even with high rates of migration, providing that selection is strong enough to maintain different allele frequencies at the selected locus. Published sequence data from the alcohol dehydrogenase locus of Drosophila melanogaster are found to fit the proposed model slightly better than a similar model without subdivision.

Tissue specific effects of ommochrome pathway mutations in Drosophila melanogaster.

Abstract: The tissue-specific effects of 17 mutations affecting the synthesis of brown eye pigment (xanthommatin) have been investigated by combining them with chocolate and red cells, two mutations causing ectopic pigmentation of the Malpighian tubules and larval fat body (which normally only synthesize pigment precursors). The majority of mutations block the pigmentation of four organs: the normally pigmented eyes and ocelli, and ectopically pigmented tubules and fat body. They represent genes that would appear to be required for the normal operation of the pathway per se and are likely to encode structural proteins. Mutations at 5 loci affect pigmentation of a subset of organs: cd and po affect only the eyes and ocelli; kar affects the eyes, ocelli and fat body; car causes excretion of pigment from tubules; and z affects pigmentation of the eyes alone. Of these loci, only z has been shown to encode a regulatory protein and the role of the remaining four gene products is not clear. Two mutations affecting the red eye pigments (drosopterins), bw and mal, do not substantially perturb brown pigment synthesis in any of the four organs.

Transposable elements in natural populations with a mixture of selected and neutral insertion sites.

Abstract: This paper examines models of the population dynamics of transposable elements when chromosomal sites vary with respect to the effect on fitness of mutations caused by element insertions. Element abundance is assumed to be stabilised solely by the joint results of transposition, excision, and selection against insertional mutations. When there are only two classes of site, selected and neutral, it is hard to find parameter values for which numbers of elements are maintained that match the findings from surveys of Drosophila populations, as elements tend to accumulate at high frequencies at the neutral sites. It is similarly hard to produce realistic equilibria with three classes of site (strongly selected, weakly selected, and neutral), when elements can transpose out of the neutral sites. If transposition from neutral sites is impossible, as might be the case for elements inserted into centric heterochromatin, then realistic equilibria can be generated if there is very weak selection against elements inserted into the majority of non-neutral sites. This model predicts a modest over-representation of elements at the neutral sites. It also predicts that elements should be under-represented on the X chromosome compared with the autosomes, but this is not generally found to be the case. It is concluded that selection against insertional mutations is unlikely to be the major factor involved in the containment of element abundance.

Genome size in Tribolium flour-beetles: inter- and intraspecific variation

Abstract: Eight species of Tribolium and the related species Alphitobius diaperinus have been microdensitometrically analysed by measuring the nuclear content (1C value) of their Feuigenstained spermatids. The range of mean genome sizes goes from 0·157 pg in T. audax to 0·388 pg in T. brevicornis , including five significantly different groups of values. Also, in ail but one species of Tribolium significant intraspecific heterogeneity of genome size was found. The resemblances in genome size are not generally correlated with genetic homologies among species, but there is a highly significant correlation between genome size and spermatid size.

The Aedes aegypti genome: complexity and organization

Abstract: We describe the use of DNA reassociation kinetics to determine the total genome size and complexity together with the individual complexity and copy number of the single copy, middle repetitive and highly repeated DNA fractions of cell line and larval DNA from the mosquito, Aedes aegypti. The genome of Ae. aegypti is both large and complex, being one third the size of the human genome, and exhibits a short period interspersed repeat pattern. The implications of patterns of sequence arrangement and genome complexities for experiments aimed at isolating specific classes of DNA sequences, such as mobile genetic elements, are discussed.

Nucleic acids in mummified plant seeds : biochemistry and molecular genetics,of pre-Columbian maize

Abstract: Nucleic acids fractions were isolated from pre-Columbian maize seeds and characterized using different approaches such as polyacrylamide gel electrophoresis, anti-DNA antibody binding, HPLC fractionation, molecular hybridization with cloned genes, and DNA amplification by the polymerase chain reaction. The nucleic acids were found to be very depolymerized (less than or equal to 140 base pairs in length) and composed mainly of ribosomal RNA. Despite the very low amount and degree of polymerization of seed DNA, specific maize nuclear Mu1, Mu4, Mu8 and, possibly, Mu5 element components could be detected, thanks to the use of amplification systems as short as 90 bp. The results suggest that evaluation of the relative proportions of Mu-type element components and, possibly, other maize genomic components in single mummified kernels, may offer a new key to the study of ancient maize populations.

Frequency of the transposable element Uq in Iowa stiff stalk synthetic maize populations

Abstract: The Uq transposable element is one of two transposable elements consistently found in maize (Zea mays L.) populations. Populations developed from two independent recurrent selection programs initiated in the Iowa Stiff Stalk Synthetic (BSSS) maize population were tested for the frequency of Uq transposable elements to determine how Uq frequency has changed with cycles of recurrent selection. In the first programme, 13 cycles of half-sib and S2 progeny recurrent selection [BSSS(S)C13] have been completed and 10 of the 13 cycles were assayed for active Uq elements. In the second programme, 11 cycles of reciprocal recurrent selection [BSSS(R)C11] have been completed and five of the 11 cycles were assayed for active Uq elements. The frequency of Uq was different for the two recurrent-selection programmes. The percentage of plants containing active Uq elements increased from 19% (BSSS) to 91% [BSSS(S)C13] at a linear rate after 13 cycles of half-sib and S2 progeny recurrent selection, whereas the percentage of plants containing active Uq elements decreased from 19% (BSSS) to 0% [BSSS(R)C11] after 11 cycles of reciprocal recurrent selection, with extinction of the Uq element occurring between the fifth and sixth cycles of selection. Our data suggest that the increase in frequency of Uq with half-sib and S2 progeny recurrent selection was predominantly due to random genetic drift coupled with a selective advantage possibly associated with a region of the genome linked to Uq. Neither replicative transposition or chromosome assortment and segregation can be invoked to explain the change in frequency of Uq in these populations. The extinction of Uq after reciprocal recurrent selection was best explained by random genetic drift.

Growth hormone and insulin-like growth factor-I measurements in high growth ( hg ) mice

Abstract: Effects of a recessive gene causing high growth (hg) were studied on two major components of the growth axis in mice. Plasma and pituitary levels of growth hormone and plasma levels of insulin-like growth factor I (IGF-I) were measured in three lines homozygous for hg, each compared with a control line of alike genetic background but wild type for the hg locus (Hg). Line Gh (hghg) and line GH (HgHg) are from a line which had undergone long-term selection for high postweaning weight gain; line Ch (hghg) and line CH (HgHg) were extracted from the second backcross of Gh to C57BL/6J; line L54 (hghg) was from the sixth backcross to C57BL/6J (B6) (HgHg). Pituitary GH levels and plasma IGF-I levels were measured in both sexes at 3, 4.5, 6 and 9 wk of age. Plasma growth hormone was measured in 8- to 12-wk-old males at hourly intervals from 08.00 to 17.00. Body weight in lines homozygous for hg at 6 and 9 wk of age was 10-30% greater than in control lines. The ontogeny of this increased growth depended on genetic background. Pituitary growth hormone content was 52% lower in the two hghg lines measured (lines Ch and Gh) than in control lines at 4.5, 6 and 9 wk. Plasma growth hormone levels were also much lower in hg mice, with values only 20-30% of those in their respective controls. hg lines showed consistently low plasma growth hormone levels throughout the 9 hr sampling period, while control lines expressed the characteristic pulsatile hormone secretion.(ABSTRACT TRUNCATED AT 250 WORDS)

Strategies for increasing fixation probabilities of recessive mutations

Abstract: Summary Fixation probabilities and mean times to fixation of new mutant alleles in an isogenic population having an effect on a quantitative trait under truncation selection were computed using stochastic simulation. A variety of population structures and breeding systems were studied in order to find an optimal design for maximizing the fixation probability for recessive genes without impairing that for non-recessives or delaying times to fixation. Circular mating or cycles with repeated generations of close inbreeding alternating with combination of the families proved to be very inefficient. The most successful scheme found, considering fixation probabilities and times to fixation jointly, was to practise individual selection and mate full sibs whenever possible, otherwise mate at random. The benefit was directly proportional to the number of full-sib matings performed, which, in turn, almost exclusively depended on the number of selected individuals with very little effect of selection intensity or magnitude of gene effects. Fixation rates could be well approximated by diffusion methods. When selection was practised in only one sex and, therefore, the proportion of full-sib matings could be varied from zero to one, maximizing the amount of full-sib mating was found to maximize fixation probability, at least for single mutants.

Fixation probability in spatially changing environments.

Abstract: The fixation probability of a mutant in a subdivided population with spatially varying environments is investigated using a finite island model. This probability is different from that in a panmictic population if selection is intermediate to strong and migration is weak. An approximation is used to compute the fixation probability when migration among subpopulations is very weak. By numerically solving the two-dimensional partial differential equation for the fixation probability in the two subpopulation case, the approximation was shown to give fairly accurate values. With this approximation, we show in the case of two subpopulations that the fixation probability in subdivided populations is greater than that in panmictic populations mostly. The increase is most pronounced when the mutant is selected for in one subpopulation and is selected against in the other subpopulation. Also it is shown that when there are two types of environments, further subdivision of subpopulations does not cause much change of the fixation probability in the no dominance case unless the product of the selection coefficient and the local population size is less than one. With dominance, the effect of subdivision becomes more complex.

Recent evolutionary history of the metallothionein gene Mtn in Drosophila.

Abstract: A new allele of one of the metallothionein genes of D. melanogaster, Mtn•3, sheds light on the recent evolution of this gene. In comparison to the previously studied Mtnl allele found in Canton S, this new allele, Mtn•3, produces a transcript that is 49 bases longer and 65–70 % less abundant. We detected Mtn•3 in several laboratory strains as well as in isofemale lines derived from natural populations. Sequence comparison showed that Mtn•3 differs from Mtnl in that it has: (a) base-pair substitution and an extra 49 bp-segment in the 3' untranslated region, (b) a substitution in the coding region that replaces the terminal Glu40 in Mtnl with Lys40, and (c) two base-pair substitutions in the promoter region. The Mtn•3-type was detected in six species of the melanogaster group by restriction analysis, and this result was confirmed by sequencing the D. simulans Mtn gene. Thus Mtn•3, which produces a less abundant transcript, appears to be the oldest of the two alleles. We also found that the duplications previously isolated from natural populations all derived from Mtnl, the more recent allele. Thus, two evolutionary steps: Mtn•3 to Mtnl and Mtnl to Dp(Mtnl), are accompanied by an overall 5- to 6-fold increase of RNA accumulation. The two changes seem to have occurred in non-African populations since Mtn•3 but not Mtnl was detected in our sample from tropical Africa, while Mtnl and Dp (Mtnl) are prevalent in European and North American samples.

hobo transposable elements in Drosophila melanogaster and D. simulans.

Abstract: Genomic patterns of occurrence of the transposable element hobo are polymorphic in the sibling species Drosophila melanogaster and D. simulans. Most tested strains of both species have apparently complete (3.0 kb) and smaller hobo elements (H lines), but in both species some strains completely lack such canonical hobo elements (E lines). The occurrence of H and E lines in D. simulans as well as in D. melanogaster implies that an hypothesis of recent introduction in the latter species is inadequate to explain the phylogenetic occurrence of hobo. Particular internally deleted elements, the approximately 1.5 kb Th1 and Th2 elements, are abundant in many lines of D. melanogaster, and an analogous 1.1 kb internally deleted element, h del sim, is abundant in most lines of D. simulans. Besides the canonical hobo sequences, both species (and their sibling species D. sechellia and D. mauritiana) have many hobo-hybridizing sequences per genome that do not appear to be closely related to the canonical hobo sequence.

Mitochondrial DNA heteroplasmy maintained in natural populations of Drosophila simulans in Réunion

Abstract: Mitochondrial DNA (mtDNA) variation in Drosophila simulans was studied to determine whether the cytoplasmic state of mtDNA heteroplasmy persists in natural populations in Reunion. For this purpose, 172 isofemale lines, newly collected from two local populations, were examined, among which three types of mtDNA (siII, siIII and siIII') were found, based on the Hpa II restriction pattern. Ten of the lines were heteroplasmic for a combination of siII and siIII, as determined by autoradiography. The same type of heteroplasmy had been noted in one of the two local populations 8 years before (Satta et al. 1988). The present results suggest that the heteroplasmic state occurs recurrently in natural populations of D. simulans in Reunion.

Production of X0 clones in XX females of Drosophila.

Abstract: The experiments reported here are aimed at determining whether mutations deleting the function of the Sex-lethal (Sxl) gene are able to suppress the lethality of X0 clones, induced in females after the time when the state of activity of Sxl is irreversibly fixed by the ratio of the number of X chromosomes to sets of autosomes (X: A). This analysis was carried out by comparing the frequency of induced male clones (X0 constitution) in SxlfLS/ + and Sxl+/Sxl+ females, following irradiation at blastoderm and larval stages. The genotype used in these experiments, however, could also give rise to 2X; 2A cells homozygous for SxlfLS, and such cells would also differentiate male structures. To minimize this possibility, we have constructed a genotype made up of a ring and a rod X chromosome. In such ring-rod females the production of 2X; 2A clones homozygous for SxlfLS is a rather rare event, if possible at all. X0 male clones were produced in both types of females following irradiation at blastoderm stage, while X0 male clones were only observed in SxlfLS/ + females when irradiation took place at larval stage. In this latter case, the only X0 male clones were those that contained the SxlfLS mutation. These results support the idea of Sanchez & Nothiger (1983) that the X: A signal irreversibly sets the state of activity of Sxl at blastoderm stage, and in addition show that X0 clones generated after that time are viable if they contain a Sxl− mutation. These results are compatible with the idea of Sxl being the only gene that responds to the X:A signal.

Two new X-autosome Robertsonian translocations in the mouse. I. Meiotic chromosome segregation in male hemizygotes and female heterozygotes.

Abstract: Two new X-autosome Robertsonian (Rb) translocations, Rb(X.9)6H and Rb(X.12)7H, were found during the course of breeding the Rb(X.2)2Ad rearrangement at Harwell. The influence of these new Rbs on meiotic chromosome segregation was investigated in hemizygous males and heterozygous females and compared to that of Rb(X. 2)2Ad. Screening of metaphase II spermatocytes gave incidences of sex chromosome aneuploidy of 9·2% in Rb(X. 2)6H/Y and 9·6% in Rb(X.9)2Ad/Y males; no metaphase II cells were present in the testes of the Rb(X. 12)7H/Y males examined and no males with this karyotype have so far proved fertile. In breeding tests, 5% of the progeny of Rb(X.2)2Ad/Y males were sex chromosome aneuploids compared to 10% of the Rb(X. 9)6H/Y offspring. The difference was not significant, however. Cytogenetic analyses of metaphase II stage oocytes showed elevated rates of hyperhaploidy ( n + l) in Rb heterozygous females over chromosomally normal mice: 4·2% for Rb(X.2)2Ad/+; 2·1% for Rb(X.9)6H/+; 2·2% for Rb(X.12)7H/+ and 1·1% for normal females. There was, however, no statistically significant difference in the rates of hyperhaploidy between the three different Rb types, nor overall between Rb/ + and normal females. Karyotypic analyses of liveborn offspring of Rb heterozygous females revealed low incidences of X0 animals but no other type of sex chromosome aneuploidy. Intercrosses of heterozygous females and hemizygous males yielded 5·5% aneuploidy for Rb(X.2)2Ad and 5·4% for Rb(X.9)6H. In heterozygous females, there was evidence from the metaphase II and breeding test data for all three rearrangements, of preferential segregation of the Rb metacentric to the polar body resulting in a deficiency of cells and progeny carrying a translocation chromosome.

Nucleolus organizer-suppressed position-effect variegation in Drosophila melanogaster.

Abstract: The white locus is inactivated in a cell-by-cell variegated pattern when juxtaposed with the proximal or distal parts of the nucleolus organizer region (NO) by X chromosome inversion. Recombinants for two such inversions, wm51b and wm4, were obtained and randomized for genetic background. White locus activity was much higher in the wm4 recombinant duplicated for most of the NO and much lower in the wm51b recombinant deficient for it. Although there may be other molecular differences between the heterochromatic regions of the recombinants, the most obvious is the dosage of NO. Suppression of a NO region-evoked variegated phenotype by additional NO doses is discussed in relation to four different classes of models for position-effect variegation (PEV): chromatin structure, nuclear geometry, incomplete transposition of mobile elements, and heterochromatin promoter-driven transcription. A corollary of the structural model is functional subdivision of heterochromatin, which would enable the use of PEV as a tool for its study.

Heterochromatin as a factor affecting X-inactivation in interspecific female vole hybrids ( Microtidae, Rodentia )

Abstract: Female interspecific vole hybrids were examined for the expression of the G6PD and GALA genes on the X chromosomes. When one of the parents was a species with a heterochromatin block on the X, and the other parent was M. arvalis , without a heterochromatin block on the X, preferential expression of the genes of the M. arvalis X was consistently observed. When both parental species had heterochromatin on the X, the parental forms of G6PD and GALA were in about equal proportions in the hybrid females. The results of the cytological identification of the active and inactive X on the metaphase spreads in the hybrid females are in agreement with the biochemical results. It is suggested that the observed phenomenon may be due to a nonrandom inactivation of the X chromosome containing a heterochromatin block in crosses involving M. arvalis and by a random inactivation in those with both parents having heterochromatin blocks on the X chromosomes. These results support our previous suggestion that heterochromatin has an effect on X inactivation in female interspecific vole hybrids.

Analysis of lines of mice selected on fat content. 4. Correlated responses in growth and reproduction.

Abstract: Lines of mice have been selected for 32 generations for either high or low fat content, resulting in a threefold divergence in the selection criterion (estimated fat content of males at 14 weeks of age). Male mice from both lines were dissected at a series of ages between 4 and 26 weeks and the following traits measured or estimated: body weight, fat content, lean weight, and the weights of several fatpads and internal organs. The lines appeared to have a similar underlying lean weight upon which the Fat line accumulated fat at a faster rate. This accumulation continued unabated in the Fat lines for at least 26 weeks but had effectively ceased by 8 weeks of age in the Lean. The liver and kidneys were slightly larger in the Fat line but there were no differences in the weights of heart, lung or spleen. This detailed phenotypic description of the lines complemented previous reports describing correlated changes in their physiology. The threefold divergence in estimated fat content was less than that in one of its component traits, growth of gonadal fatpad, but was greater than the divergence in other physiological indicators, i.e. the activity of lipogenic enzymes in vitro and direct measurement of lipogenic flux. Testis size in the Fat line was consistently lower than in the Lean although the Fat line was slightly more fecund, apparently due to a higher prenatal survival rate.

Chromosomal fragment responsible for genetic mosaicism in larval body marking of the silkworm, bombyx mori

Abstract: Several genetic mosaics for larval body marking of the silkworm, Bombyx mori, have been induced by X-ray irradiation. It is hypothesized that the occasional loss of chromosomal fragments carrying the genes for body marking during development may give rise to this type of mosaicism. Using pulsed field gel electrophoresis (PFGE), we find that a DNA molecule of about 2·5 megabases (Mb) is present in one type of mosaic (mottled striped strains pSm788 and pSm872), and not in any other strain. This DNA fragment hybridizes strongly with some chorion genes which are less than 6·9 cM away from the ps locus, and hence it corresponds to a chromosomal fragment containing genes for both striped marking (ps) and the chorion. In the non-mottled ps strain, the phenotype before X-ray irradiation, no band was detected either on a PFGE gel or after hybridization with the chorion probe. These results suggest that the mottled ps strains carry short chromosome fragments which are lost differentially during cell divisions.

Population genetics of the Y chromosome of Drosophila melanogaster: rDNA variation and phenotypic correlates.

Abstract: One means of examining the evolutionary significance of molecular variation on the Y chromosome is to identify phenotypes specifically affected by Y-linked genes, and to quantify the phenotypic variation and its correlation to the molecular variation. The functional importance of the Y-linked array of rRNA genes is demonstrated by the ability of Y chromosome to rescue X-linked bobbed lethal alleles, whose lethality is seen in homozygous females. Because low numbers of X-linked rDNA gene copies result in increased developmental time and shortened bristles, and because there is considerable natural variation in Y-linked copy number, a careful examination of Y-linked variation in these two traits may uncover a mode of selection acting on the multigene family. In this study, 36 Y-chromosome replacement lines were tested to detect subtle variation in bristle phenotypes and developmental rates. Correlations among these traits, rDNA gene copy number, and intergenic sequence length were quantified. The absence of significant correlations between phenotypic characters and rDNA copy number of intergenic sequence length suggests that the extant molecular variation in Y-linked rDNA can have at most very small selective effects.