Karyotype and karyofund of chironomids Polypedilum (Pentapedilum) sordens (Diptera, Chironomidae)

Karyotypes and karyofund of chironomids P. Polypedilum (Pentapedilum) sordens (Van der Wulp, 1874) from four water bodies of Saratov region have been analysed. 2n = 6, I (GAB) > II (CD) > III (EF). A cytophotochart of polytene chromosomes of this species was composed, and discovered inversions were identified on its base. The level of inversion polymorphism is high. There are 18 chromosome sequences in the karyofund. The frequency of heterozygote inversions is 1.6-2.5 per specimen. On the base of this cytochart it is possible to produce chromosome charts of other species of subgenus Pentapedilum.     

Inversions in evolution of man and closely related species

By the comparative study of the karyotypes of many Primates, 35 inversions (25 peri- and 10 paracentric) having accumulated during evolution of species related to man were reconstructed. Some of them originated human chromosomes from more ancestral chromosomes still present in other primate species. Their detection in man would indicate the occurrence of reverse mutations. Other inversions occurred in ancestral chromosomes identical to those of man, and originated chromosomes of other Primates species. Their detection in man would indicate the occurrence of a convergent mutation. It is shown that such reverse and convergent mutations do occur. They are too frequently observed than by mere chance among patients ascertained in human cytogenetic laboratories. Their excess is still larger among radiation induced inversions in human cells. This demonstrates the nonrandom occurrence of inversions. In addition, it is concluded that inversions which have accumulated during evolution are more representative of mutagenesis than those detected in human cytogenetic laboratories.     

High frequencies of inversions and translocations of chromosomes 7 and 14 in ataxia telangiectasia

The R-banding of more than 1100 lymphocytes and fibroblasts from 11 patients with ataxia telangiectasia (AT) showed rearrangements of chromosomes 7 and/or 14 in about 7% of the cells. Among these rearrangements, pericentric inversion of chromosome 7 was the most frequent, and the paracentric inversion of chromosome 14 not very rare.These inversions are believed to be fairly specific of AT, and their absence in the previously reported literature may be due to technical problems. Inversions were also observed in the lymphocytes of presumed heterozygote carriers with a lower frequency, and may be of some help for the detection of healthy heterozygote carriers of the AT gene.     

Individual inversions or their combinations: which is the main selective target in a natural population of Drosophila subobscura?

It is generally accepted that chromosomal inversions have been key elements in adaptation and speciation processes. In this context, Drosophila subobscura has been, and still is, an excellent model species due to its rich chromosomal polymorphism. In this species, many analyses from natural populations have demonstrated the adaptive potential of individual inversions (and their overlapped combinations, the so‐called arrangements). However, little information is available on the evolutionary role of combinations generated by inversions located in homologous and nonhomologous chromosomes. The aim of this research was to ascertain whether these combinations are also a target for natural selection. For this objective, we have studied the inversion composition of homologous and nonhomologous chromosomes from a D. subobscura sample collected in a well‐studied population, Mount Avala (Serbia). No significant deviation from H‐W expectations was detected, and when comparing particular karyotypic combinations, likelihood ratios close to 1 were obtained. Thus, it seems that for each pair of homologous chromosomes inversions no deviation from randomness was detected. Finally, no linkage disequilibrium was observed between inversions located in different chromosomes of the karyotype. For all these reasons, it can be assumed that, at the cytological level, the individual inversions rather than their combinations in different chromosomes are the main target of selection.     

The polytene chromosomes of Drosophila triauraria and D. quadraria, sibling species of D. auraria.

The polytene chromosomes of Drosophila triauraria and D. quadraria, two of the sibling species of D. auraria, were examined. The polytene chromosomes of all three species exhibit very clear homology. Unlike the stock of D. auraria that we studied, D. triauraria and D. quadraria carry heterozygous paracentric inversions. In both species, 2R and 3R are the arms where these inversions are concentrated. In addition, in D. quadraria, the 3L chromosome arm is very complicated because of heterozygous inversions. The mode of inheritance of these rearrangements was studied. A homozygous strain for all chromosome arms of D. triauraria was isolated, while a homozygous strain was obtained only for the arms X, 2L, 3L, and 4 of D. quadraria. Like D. auraria, both species show a large number of inverted tandem duplications in the paired condition, even in the chromosomes of their hybrids. Small deletions were also detected, one of which, in D. triauraria, is homozygous terminal. Hypotheses are discussed concerning the relationships of the species and the existence of inverted tandem duplications.     

Inversion polymorphism in Drosophila obscura

The inversion polymorphism of Drosophila obscura Fallen, a European species of the obscura group of the subgenus Sophophora, is described. A total of 21 inversions have been recorded; they are located in the five large chromosomes of the species (a dot chromosome is also present) and form 25 gene arrangements present in the species' natural populations. Strains from five different countries were studied. Two of these inversions were found to be pericentric, and the remaining were paracentric. The presence of "hot" points (multibreaks) was noticed. The distribution of the relative lengths of inversions conformed to the Van Valen-Levins distribution, contrary to what happens in D. subobscura. Observations also showed that there is no crossover inhibition between nonoverlapping inversions. The phylogeny of chromosome C was reconstructed; the existence of several arrangements not found was postulated; and the primitive gene arrangement, linking D. obscura to its closely related species was identified, as well as the primitive gene arrangements of the other chromosomes. Photographic maps of the chromosomes of D. obscura are provided here.     

Chromosomal Homology and Molecular Organization of Muller''s Elements D and E in the Drosophila Repleta Species Group

Thirty-three DNA clones containing protein-coding genes have been used for in situ hybridization to the polytene chromosomes of two Drosophila repleta group species, D. repleta and D. buzzatii. Twenty-six clones gave positive results allowing the precise localization of 26 genes and the tentative identification of another nine. The results were fully consistent with the currently accepted chromosomal homologies and in no case was evidence for reciprocal translocations or pericentric inversions found. Most of the genes mapped to chromosomes 2 and 4 that are homologous, respectively, to chromosome arms 3R and 3L of D. melanogaster (Muller's elements E and D). The comparison of the molecular organization of these two elements between D. melanogaster and D. repleta (two species that belong to different subgenera and diverged some 62 million years ago) showed an extensive reorganization via paracentric inversions. Using a maximum likelihood procedure, we estimated that 130 paracentric inversions have become fixed in element E after the divergence of the two lineages. Therefore, the evolution rate for element E is approximately one inversion per million years. This value is comparable to previous estimates of the rate of evolution of chromosome X and yields an estimate of 4.5 inversions per million years for the whole Drosophila genome.     

A comparative study of the chromosomal polymorphs in the incipient species of the Drosophila paulistorum complex

Ninety-six geographical strains distributed among the incipient species of the Drosophila paulistorum complex were examined cytologically, and the results obtained were correlated with available data on hybridization tests and chromosomal analysis. The complex was found to contain more than sixty-three different inversions, out of which thirty-two were 3rd chromosome configurations. This placed Drosophila paulistorum among the most chromosomally polymorphic species in the genus. The species differs from D. willistoni, in that a great number of inversions is concentrated in one of the chromosomes, as opposed to approximately equal distribution of inversions in the chromosomes of willistoni. — The data obtained in the course of this investigation seem to support the idea that either massive populations become isolated and then form new species, or that the newly forming species tend to retain some of their ancestral polymorphs which might present them with heterotic effects, gradually replacing them with more successful combinations as speciation progresses.The work reported in this article has been carried under Contract No. AT (30-1)-3096, U. S. Atomic Energy Commission.     

Complex genome rearrangements reveal evolutionary dynamics of pericentromeric regions in the Triticeae.

Most pericentromeric regions of eukaryotic chromosomes are heterochromatic and are the most rapidly evolving regions of complex genomes. The closely related genomes within hexaploid wheat (Triticum aestivum L., 2n=6x=42, AABBDD), as well as in the related Triticeae taxa, share large conserved chromosome segments and provide a good model for the study of the evolution of pericentromeric regions. Here we report on the comparative analysis of pericentric inversions in the Triticeae, including Triticum aestivum, Aegilops speltoides, Ae. longissima, Ae. searsii, Hordeum vulgare, Secale cereale, and Agropyron elongatum. Previously, 4 pericentric inversions were identified in the hexaploid wheat cultivar 'Chinese Spring' ('CS') involving chromosomes 2B, 4A, 4B, and 5A. In the present study, 2 additional pericentric inversions were detected in chromosomes 3B and 6B of 'CS' wheat. Only the 3B inversion pre-existed in chromosome 3S, 3Sl, and 3Ss of Aegilops species of the Sitopsis section, the remaining inversions occurring after wheat polyploidization. The translocation T2BS/6BS previously reported in 'CS' was detected in the hexaploid variety 'Wichita' but not in other species of the Triticeae. It appears that the B genome is more prone to genome rearrangements than are the A and D genomes. Five different pericentric inversions were detected in rye chromosomes 3R and 4R, 4Sl of Ae. longissima, 4H of barley, and 6E of Ag. elongatum. This indicates that pericentric regions in the Triticeae, especially those of group 4 chromosomes, are undergoing rapid and recurrent rearrangements.     

INVERSION LENGTH AND BREAKPOINT DISTRIBUTION IN THE DROSOPHILA BUZZATII SPECIES COMPLEX: IS INVERSION LENGTH A SELECTED TRAIT?

Length and position of breakpoints are characteristics of inversions that can be precisely determined on the polytene chromosomes of Drosophila species, and they provide crucial information about the processes that govern the origin and evolution of inversions. Eighty-six paracentric inversions described in the Drosophila buzzatii species complex and 18 inversions induced by introgressive hybridization in D. buzzatii were analyzed. In contrast to previous studies, inversion length and breakpoint distribution have been considered simultaneously. We conclude that: (1) inversion length is a selected trait; rare inversions are predominantly small while evolutionarily successful inversions, polymorphic and fixed, are predominantly intermediate in length; a nearly continuous variation in length, from small to medium sized, is found between less and more successful inversions; (2) there exists a significant negative correlation between length and number of polymorphic inversions per species which explains 39% of the inversion length variance; (3) natural selection on inversion length seems the main factor determining the relative position of breakpoints along the chromosomes; (4) the distribution of breakpoints according to their band location is non-random, with chromosomal segments that accumulate up to eight breakpoints.     

Selective Introgression of Paracentric Inversions between Two Sibling Species of the Anopheles Gambiae Complex

The Anopheles gambiae complex includes the major vectors of malaria in sub-Saharan Africa where >80% of all world-wide cases occur. These mosquitoes are characterized by chromosomal inversions associated to the speciation process and to intraspecific ecological and behavioral flexibility. It has been postulated that introgressive hybridization has selectively transferred inversions on the second chromosome between A. gambiae and A. arabiensis, the two most important vectors of malaria. Here we directly test this hypothesis with laboratory experiments in which hybrid populations were established and the fate of chromosomal inversions were followed. Consistent with the hypothesis, ``foreign' X chromosomes were eliminated within two generations, while some ``foreign' second chromosomes persisted for the duration of the experiments and, judging from the excess of heterozygotes, established stable heterotic polymorphisms. Only those second chromosome inversions found naturally in the species could be introgressed.     

Homoeology of banding sequences and centromeres of Glyptotendipes paripes Edwards, 1929 and G. glaucus meigen, 1818 (Diptera, Chironomidae)

The karyotype analysis of the Glyptotendipes paripes Edwards, 1929 from water reservoirs of Saratov region has been conducted. In the studied population, the following combination of banding sequences predominated: A1.1, B1.1 and G1.1. The frequency of larvae with heterozygous inversions was 72.9 %, the average number of heterozygous inversions per specimen was 0.667, and the most frequent heterozygous inversions were B1.2 (39.5%) and D1.2 (29.2%). Localization of centromeres in the polytene chromosomes G. paripes was defined with the help of C-banding. Homoeology of polytene chromosomes of two chironomidae species (G. paripes and G. glaucus Mg.) has been analyzed and redesignation of chromosomes arms G. paripes has been offered: instead of par D--par A, instead of par C--par B, instead of par A--par D and instead of par B--par C.     

Bayesian estimation of the number of inversions in the history of two chromosomes.

We present a Bayesian approach to the problem of inferring the history of inversions separating homologous chromosomes from two different species. The method is based on Markov Chain Monte Carlo (MCMC) and takes full advantage of all the information from marker order. We apply the method both to simulated data and to two real data sets. For the simulated data, we show that the MCMC method provides accurate estimates of the true posterior distributions and in the analysis of the real data we show that the most likely number of inversions in some cases is considerably larger than estimates obtained based on the parsimony inferred number of inversions. Indeed, in the case of the Drosophila repleta-D. melanogaster comparison, the lower boundary of a 95% highest posterior density credible interval for the number of inversions is considerably larger than the most parsimonious number of inversions.     

Chromosomal evolution of the Hawaiian Telmatogeton (Chironomidae,Diptera)

It is only in the Hawaiian Islands that species of the otherwise marine genus Telmatogeton have evolved into freshwater. An analysis of polytene chromosomes and karyotypes of two marine species and five freshwater species revealed that paracentric inversions and centric fusions were important in chromosomal evolution. The sequence of polytene chromosome bands common to most species, established as the Telmatogeton standard sequence, is found in a population of T. torrenticola from West Maui. Most species and other populations of T. torrenticola may be derived from the standard sequence by paracentric inversions. Similarities with the standard band sequence places T. japonicus (n=7) rather than T. pacificus (n=4) in the proposed phylogeny as the species closest to the marine ancestor of the freshwater species. One of three species (T. fluviatilis from Oahu, T. torrenticola from West Maui, or an undescribed species from East Maui), each with seven pairs of chromosomes is considered to be closest to the original freshwater species. T. torrenticola is a complex species in which there is an accumulation of fixed inversions and centric fusions in stepwise fashion in populations from west to east (West Maui n=7; East Maui n=6; Kohala Mountains n=5 and Mauna Kea n=4 both from the island of Hawaii). The population of T. torrenticola from Molokai has a reduced chromosome number (n=4) and fixed inversions. T. abnormis and T. hirtus, the only species which exhibit differentiated sex chromosomes, may be derived from the standard sequency by paracentric inversions. T. abnormis (n=4) has a simple XY system and T. hirtus (n=3/4) has a complex XY₁Y₂ system. Unique sequences of bands, differences in staining intensity of puffs and bands, and an inversion form the basis for the differentiation of the various Y-chromosomes in these species.     

Polytene chromosome map and inversion polymorphism in Drosophila mediopunctata

Drosophila mediopunctata belongs to the tripunctata group, and is one of the commonest Drosophila species collected in some places in Brazil, especially in the winter. A standard map of the polytene chromosomes is presented. The breakpoints of the naturally occurring chromosomal rearrangements are marked on the map. The distribution of breaking points through the chromosomes of D. mediopunctata is apparently non-random. Chromosomes X, II and IV show inversion polymorphisms. Chromosome II is the most polymorphic, with 17 inversions, 8 inversions in the distal region and 9 in the proximal region. Chromosome X has four different gene arrangements, while chromosome IV has only two.     

Cytogenetic studies of Chironomus circumdatus from India (Diptera: Chironomidae)

Chironomus circumdatus is one of the most common and wide-spread species in India. Cytogenetic studies pertaining to the mitotic and polytene chromosomes, nucleolar organizer regions, C-banding and naturally occurring chromosomal polymorphism have been carried out for the first time in this Indian species. Altogether seven inversions comprising six paracentric and one pericentric are detected in the Indian populations. The distribution of inversions in relation to different environmental conditions is discussed.     

Genome‐wide tests for introgression between cactophilic Drosophila implicate a role of inversions during speciation

Models of speciation‐with‐gene‐flow have shown that the reduction in recombination between alternative chromosome arrangements can facilitate the fixation of locally adaptive genes in the face of gene flow and contribute to speciation. However, it has proven frustratingly difficult to show empirically that inversions have reduced gene flow and arose during or shortly after the onset of species divergence rather than represent ancestral polymorphisms. Here, we present an analysis of whole genome data from a pair of cactophilic fruit flies, Drosophila mojavensis and D. arizonae, which are reproductively isolated in the wild and differ by several large inversions on three chromosomes. We found an increase in divergence at rearranged compared to colinear chromosomes. Using the density of divergent sites in short sequence blocks we fit a series of explicit models of species divergence in which gene flow is restricted to an initial period after divergence and may differ between colinear and rearranged parts of the genome. These analyses show that D. mojavensis and D. arizonae have experienced postdivergence gene flow that ceased around 270 KY ago and was significantly reduced in chromosomes with fixed inversions. Moreover, we show that these inversions most likely originated around the time of species divergence which is compatible with theoretical models that posit a role of inversions in speciation with gene flow.     

Chromosomal polymorphisms in the pitcher-plant mosquito,Wyeomyia smithii

A local population of the pitcher-plant mosquito, Wyeomyia smithii (Diptera: Culicidae, Culicini) in western New York State contains naturally polymorphic salivary gland chromosomes. Maps depicting the proposed standard sequence of bands along each of the three chromosomes are presented. Structural conformations of heterokaryotypes reveal ten paracentric inversions. Four inversions occur in chromosome 1, and three in each of chromosomes 2 and 3. All the inversions are small, occupying 3–17% of the length of their respective chromosomes, and all are located in the terminal 1/5 to 1/2 of a chromosome arm. Three inversions are almost adjacent on chromosome 1. On chromosome 2 one inversion lies completely within another. Three inversions on chromosome 3 partially overlap. The remaining two inversions occur alone, one on chromosome 1 and the other on chromosome 2. Another polymorphism, with no visible alteration of band sequence, produces asynapsis of all but the tip of the left arm of chromosome 1, and shows a significant change in frequency between two successive years. No inversion exhibits a significant seasonal change in frequency, though some fluctuation in frequency was noted in two cases. The rarest inversion in the population exists at a frequency below 0.01, and the two most common inversions at frequencies of 0.44 and 0.52. The average inversion heterozygosity of an individual is between 1.7 and 2.4 based on two different estimation procedures. Heterokaryotypes for several of the inversions were significantly more frequent than they should have been, given binomial expectations. Cytogenetic analysis of W. smithii was deemed particularly desirable because this species has been and continues to be the subject of extensive biometrical-genetic, ecological, and evolutionary investigation.This paper is the seventh in a series on the ecology and evolution of the pitcher-plant mosquito     

Results of a karyological study of blood-sucking flies (Diptera: Simuliidae) of Armenia

Karyotypes of 31 species of black flies belonging to 11 genera have been examined. The morphology of polytene chromosomes from salivary glands of larvae and mitotic chromosomes of gonads and ganglia have been studied. It was found that most species have 2n = 6, except the Eusimulium species, which have 2n = 4. Each species is characterised by a specific pattern of polytene chromosomes. It was found that widely spread species are polymorphic in heterozygous inversions and additional B-chromosomes. The use of karyological studies in taxonomic diagnostics of black flies, especially in the cases when species are similar morphologically, was shown to be expedient.