The B chromosome polymorphism of the grasshopper Eyprepocnemis plorans in North Africa: III. mutation rate of B chromosomes

B chromosome variation in nine Moroccan populations of the grasshopper Eyprepocnemis plorans was analysed for 3 consecutive years. In addition to B1, which was the predominant B chromosome in all nine populations, we found 15 other B variants, albeit at very low frequency. Eight variants were found in adults caught in the wild, four appeared in adults reared in the laboratory and seven were found in embryo progeny of controlled crosses between a 0B male and a B-carrying female. Some variants were found in more than one kind of material. At least the seven B variants that appeared in embryo progeny of females carrying a different B type arose de novo through mutation of the maternal B chromosome. The mutation rate of B chromosomes was 0.73%, on average, which explains the high variety of morphs and banding patterns found. The most frequent de novo mutations observed in these chromosomes were centromere misdivision with or without chromatid nondisjunction, which generates iso-B-chromosomes or telocentric Bs, respectively, as well as translocations with A and B chromosomes and deletions. But the whole variation observed, including that found in adult individuals, suggests that other mutations such as duplications, inversions and centric fusions do usually affect B chromosomes. Finally, B chromosome mutation rate was remarkably similar in both Moroccan and Spanish populations, which suggests that it might be dependent on B chromosome intrinsic factors.     

Low Frequency of Mouse T Haplotypes in Wild Populations Is Not Explained by Modifiers of Meiotic Drive

t haplotypes are naturally occurring forms of mouse chromosome 17 that show non-Mendelian transmission from heterozygous +/t males. In laboratory studies, transmission ratios of >=0.90 or higher are typically observed. With transmission ratios of this level, theoretical analyses predict high frequencies of t haplotypes (~ 75%) in wild populations. In contrast, empirical frequencies of only 15-25% are typically found. This has led to the suggestion that modifiers of drive may play a role in reducing t frequencies. We have measured transmission ratio distortion (TRD) levels in wild +/t mice to examine this hypothesis. TRD was very high in both litters collected from wild-caught pregnant females, and in wild litters bred in the laboratory (mean = 0.9). Contrary to the results of other studies, we found no difference in TRD levels between semilethal and lethal t haplotypes nor between litters conceived from cycling or postpartum estrus. We found three litters with aberrantly low TRDs that were all multiply sired, although the role this might play in natural populations is unknown. These findings show a general absence of modifiers of drive in natural populations and suggest that other factors are responsible for the low observed frequencies of wild t haplotypes.     

Genetic variability in Muscari comosum L. (Liliaceae) IV Geographical distribution and adaptive role of the polymorphic variants of chromosome 2

Muscari comosum L. (Liliaceae) has a chromosomal polymorphism for a pericentric inversion and a supernumerary chromosome segment probably due to an unequal interchange or insertional translocation. Both arrangements are widely distributed throughout the species range and the mean genetic distance among populations is D=0.131±0.075. There are no correlations between genetic distance and geographic distance or latitude. Only appreciable decreases in the frequencies of the inversion are detected in populations with ecologically marginal characteristics. There is a permanent and extended association between chromosomal inversion and an enzymatic locus (ADH). An excess of individuals heterozygous for the inversion was found and female productivity of heterozygotes is higher than that of corresponding homozygotes. A low rate of inversion heterozygosity in populations with ecologically marginal characteristics could be explained by natural selection. With respect to the adaptive role of the segment, although no homozygotes are found and may be selected against, heterozygotes could have heterotic effects.     

B chromosomes in Stylidium crossocephalum (Angiospermae:Stylidiaceae)

Populations of Stylidium crossocephalum contain two common types of B chromosomes, macro B chromosomes and micro B chromosomes. The macro B chromosomes are telocentric, slightly smaller than the smallest A chromosomes and mitotically unstable. They have so far been found associated with 6 of the 16 stable genomes known in S. crossocephalum, occurring in populations covering a substantial portion of the species range. Micro B chromosomes are about one third the length of the smallest A chromosome, acrocentric and show some mitotic instability. They occur associated with 3 stable genomes in populations found in the more medial regions of the species range. Both types of B chromosomes generally show regular behaviour during meiosis, although when two or more are present their pairing efficiency is reduced when compared to the A chromosomes. In addition a single very large mega chromosome was found in a single cell of one heterokaryotypic plant. Its origin although conjectural at this stage may be of relevance in understanding the origin of macro and micro B chromosomes in this species.     

B chromosomes in the fish Astyanax scabripinnis (Characidae, Tetragonopterinae): an overview in natural populations

Astyanax scabripinnis, a small neotropical freshwater fish, is a headwater species living in small tributaries of many Brazilian rivers, where they form isolated populations. This species harbors a B chromosome system in several populations. Among the several kinds of Bs reported in this species, the B(M) variant, a large metacentric of a similar size to the largest A chromosome, is the most widespread in natural populations. It probably corresponds to the ancestral B type in this species and a very similar B chromosome is also found in other Astyanax species. Strong evidence suggests that this B is an isochromosome showing structural and functional homology between its two arms, as shown by satellite DNA localization and the formation of a ring B univalent during meiosis. The B(SM) and B(m) variants, a large submetacentric and a small metacentric, respectively, represent rare variants and may be derived from structural rearrangements of the B(M) chromosome. In addition, B microchromosomes (B(micro)) were found in some populations. Frequency analyses in mountain populations have shown that B chromosomes are found in populations located at high altitude, but are absent in populations at low altitude, which is consistent with their parasitic nature, given the ecological peculiarities of both kinds of populations.     

Identification of quantitative trait loci influencing traits related to energy balance in selection and inbred lines of mice.

Energy balance is a complex trait with relevance to the study of human obesity and maintenance energy requirements of livestock. The objective of this study was to identify, using unique mouse models, quantitative trait loci (QTL) influencing traits that contribute to variation in energy balance. Two F2 resource populations were created from lines of mice differing in heat loss measured by direct calorimetry as an indicator of energy expenditure. The HB F2 resource population originated from a cross between a noninbred line selected for high heat loss and an inbred line with low heat loss. Evidence for significant QTL influencing heat loss was found on chromosomes 1, 2, 3, and 7. Significant QTL influencing body weight and percentage gonadal fat, brown fat, liver, and heart were also identified. The LH F2 resource population originated from noninbred lines of mice that had undergone divergent selection for heat loss. Chromosomes 1 and 3 were evaluated. The QTL for heat loss identified on chromosome 1 in the HB population was confirmed in the LH population, although the effect was smaller. The presence of a QTL influencing 6-wk weight was also confirmed. Suggestive evidence for additional QTL influencing heat loss, percentage subcutaneous fat, and percentage heart was found for chromosome 1.     

Genetic screens for factors involved in the notum bristle loss of interspecific hybrids between Drosophila melanogaster and D. simulans

Interspecific cross is a powerful means to uncover hidden within- and between-species variation in populations. One example is a bristle loss phenotype of hybrids between Drosophila melanogaster and D. simulans, although both the pure species have exactly the same pattern of bristle formation on the notum. There exists a large amount of genetic variability in the simulans populations with respect to the number of missing bristles in hybrids, and the variation is largely attributable to simulans X chromosomes. Using nine molecular markers, I screened the simulans X chromosome for genetic factors that were responsible for the differences between a pair of simulans lines with high (H) and low (L) missing bristle numbers. Together with duplication-rescue experiments, a single major quantitative locus was mapped to a 13F-14F region. Importantly, this region accounted for most of the differences between H and L lines in three other independent pairs, suggesting segregation of H and L alleles at the single locus in different populations. Moreover, a deficiency screening uncovered several regions with factors that potentially cause the hybrid bristle loss due to epistatic interactions with the other factors.     

B Chromosome Polymorphism in the Fish, Astyanax scabripinnis

Four populations of Astyanax scabripinnis (Pisces, Characidae) were analyzed for B chromosome features. This species contains a metacentric macrochromosome (B_M), similar in size to the first chromosome of the karyotype, besides two variant forms, a large submetacentric (B_SM) and a small metacentric (B_m), both showing a reduced frequency. These variant forms were observed only in the populations from the Campos do Jordão region (São Paulo State, Brazil), although not present in all the populations sampled. The three B chromosome forms are heterochromatic and at least the B_M and B_SM are also GC-rich, as evidenced by C-banding and chromomycin A₃ staining. In spite of the morphological similarity between the B_M form and the first chromosome pair, they differ in the G-banding pattern, which does not favor a possible relationship among these chromosomes. FISH with a telomeric DNA probe evidenced signals on the terminal region of all chromosomes, including the Bs. Interstitial telomeric bands, indicative of some chromosomal rearrangements such as translocation or tandem fusion in the origin of the B chromosomes, were not observed. B_SM and B_m are probable derivative B chromosome forms from an ancestral B_M chromosome, showing a restricted occurrence and low frequency in the populations.     

The bovine bivariate flow karyotype and peak identification by chromosome painting with PCR-generated probes

A bovine bivariate flow karyotype has been established from a primary fibroblast cell culture carrying a 4;10 Robertsonian translocation. From 27 to 36 populations could be resolved by flow cytometry although the anticipated number was 31. Separation of chromosomal pairs into two populations explains this high resolution and confirms the high level of heteromorphism previously observed. We used a PARM-PCR (Priming Autorizing Random Mismatches) procedure for the production of paint probes from flow-sorted chromosome fractions. These probes were used for chromosome identification by fluorescence in situ hybridization (FISH) on R-banded metaphase spreads. We present the localization of all the bovine chromosome types on the flow karyotype. Twenty-two chromosome types including the translocated chromosome were sorted as pure fractions.     

Can polymorphism be maintained by selection favouring an intermediate optimum phenotype?

Populations of Drosophila melanogaster containing the special chromosome, M-5, were subjected to artificial selection to canalise scutellar bristle phenotype at four bristles. At the end of the experiment allele frequencies at three enzyme loci were measured. In the selected population, these frequencies were found to have diverged from their starting values less than would have been predicted on the basis of random genetic drift. This was not found in control populations or in populations selected for low bristle number.     

STAIRS: a new genetic resource for functional genomic studies of Arabidopsis

Many biologically and economically important traits in plants and animals are quantitative/multifactorial, being controlled by several quantitative trait loci (QTL). QTL are difficult to locate accurately by conventional methods using molecular markers in segregating populations, particularly for traits of low heritability or for QTL with small effects. In order to resolve this, large (often unrealistically large) populations are required. In this paper we present an alternative approach using a specially developed resource of lines that facilitate QTL location first to a particular chromosome, then to successively smaller regions within a chromosome (< or = 0.5 cM) by means of simple comparisons among a few lines. This resource consists of "Stepped Aligned Inbred Recombinant Strains" (STAIRS) plus single whole Chromosome Substitution Strains (CSSs). We explain the analytical power of STAIRS and illustrate their construction and use with Arabidopsis thaliana, although the principles could be applied to many organisms. We were able to locate flowering QTL at the top of chromosome 3 known to contain several potential candidate genes.     

Quantitative trait loci affecting knockdown resistance to high temperature in Drosophila melanogaster

Knockdown resistance to high temperature is an ecologically important trait in small insects. A composite interval mapping was performed on the two major autosomes of Drosophila melanogaster to search for quantitative trait loci (QTL) affecting knockdown resistance to high temperature (KRHT). Two dramatically divergent lines from geographically different thermal environments were artificially selected on KRHT. These lines were crossed to produce two backcross (BC) populations. Each BC was analysed for 200 males with 18 marker loci on chromosomes 2 and 3. Three X-linked markers were used to test for X-linked QTL in an exploratory way. The largest estimate of autosome additive effects was found in the pericentromeric region of chromosome 2, accounting for 19.26% (BC to the low line) and 29.15% (BC to the high line) of the phenotypic variance in BC populations, but it could represent multiple closely linked QTL. Complete dominance was apparent for three QTL on chromosome 3, where heat-shock genes are concentrated. Exploratory analysis of chromosome X indicated a substantial contribution of this chromosome to KRHT. The results show that a large-effect QTL with dominant gene action maps on the right arm of chromosome 3. Further, the results confirm that QTL for heat resistance are not limited to chromosome 3.     

CHROMOSOME RACES AND STRUCTURAL HETEROZYGOSITY IN CALYCADENIA CILIOSA GREENE (ASTERACEAE)

A biosystematic study of Calycadenia ciliosa resulted in the recognition of five homoploid (n = 6) chromosome races. The cytogenetic evidence indicates that each of these races is differentiated from its nearest relative by a single reciprocal chromosome translocation, although at one point in the evolutionary history a pericentric inversion may have been a concurrent cytological event. The data also show that the chromosome phylogeny includes two instances of redundant translocation. Mean pollen stainabilities of interracial hybrids range from 16–80%. In a survey of four natural populations 30–60% of the individuals sampled were found to be structurally heterozygous for reciprocal chromosome translocations. Pericentric inversion heterozygosity was also detected in one population. Another population contained morphologically indistinguishable individuals separated by as little as 120 m that were differentiated by a minimum of four chromosome translocations. These observations were compared with similar instances in other species in an effort to determine their significance in the process of plant evolution.     

Intrapopulation autosomal polymorphism in the common vole Microtus arvalis from the Transcaucasian region

The broad autosomal polymorphism in form obscurus of common voles Microtus arvalis from the Transcaucasian region that is associated with the variation of subtelocentric chromosome pair 5, as well as the mechanism and evolutionary significance of this polymorphism, are discussed. Based on the morphological analysis of heterozygotes for chromosome pair 5 after differential G-, C-, and Ag-NOR-banding and on the measurements of homologues, the following conclusion has been made. The occurrence of the acrocentric chromosome 5 is the result of a double chromosomal rearrangement: a pericentric inversion and a duplication of the chromosomal material. The mutation has been found throughout the entire territory of Armenia. In spite of such a wide distribution, the mutation frequency in populations is extremely low. Neither a definite pattern of geographic distribution nor a clinal variation was found for this mutation. This mutation is likely to occur independently in different M. arvalis populations and is apparently neutral. Homozygotes for chromosome pair 5 are described for the first time.     

Non-recombining chromosome Y haplogroups and centromeric HindIII RFLP in relation to blood pressure in 2,743 middle-aged Caucasian men from the UK

Evidence from rodents and association analyses in humans suggest the presence on chromosome Y of one or more genes affecting blood pressure (BP). The HindIII centromeric alphoid polymorphism has been reported to be associated with BP in three independent human populations, although other studies reported null associations with this trait. Our objective was to test for association between BP and genetic variation of the Y chromosome. To this end, 2,743 unrelated Caucasian men recruited from nine UK practices were analysed for five SNPs (including the HindIII site) and two microsatellites spanning the non-recombining region of the Y chromosome. Systolic and diastolic BP were analysed both as quantitative traits and as categorical variables. Differences between locations were tested. Haplotypic and linkage disequilibrium (LD) analyses were also performed. Overall, no significant association was found between any of the loci analysed and BP, although post hoc analyses suggest a possible relation of specific Y haplogroups to BP. The HindIII polymorphism marks major structural differences in the Y centromere which could infuence mitotic loss during ageing, or other somatic events. However, this study does not support a causal effect on BP, although association of one or more Y haplogroups cannot be excluded.Electronic Supplementary Material Supplementary material is available for this article at     

Anucleate cell production by Escherichia coli delta hns mutant lacking a histone-like protein, H-NS.

Normal-sized anucleate cells were observed in the cultures of a delta hns mutant strain. Even in nucleate cells, some populations showed irregular intracellular localization of the nucleoids. The delta hns mutant showed reduced ploidy, although initiation of chromosome replication was essentially synchronous as defined by flow cytometric analysis. These results indicate that the delta hns mutant is defective in the mechanisms of chromosome partitioning and chromosome replication.     

Isolation and characterization of Y chromosome DNA probes.

A sorted, cloned Y chromosome phage library was screened for unique Y chromosome sequences. Of the thousands of plaques screened, 13 did not hybridize to radiolabeled 46,XX total chromosomal DNA. Three plaques were characterized further. Clone Y1 hybridized to multiple restriction enzyme fragments in both male and female DNA with more intense bands in male DNA. Clone Y2, also found in female and male DNA, is probably located in the pseudosutosomal region because extra copies of either the X or Y chromosomes increased Y2 restriction enzyme fragment intensity in total cellular DNA. Clone Y5 was male specific in three of four restriction enzyme digests although in the fourth a light hybridizing band was observed in both male and female DNA. Clone Y5 was sublocalized to band Yq 11.22 by hybridization to a panel of cellular DNA from patients with Y chromosome rearrangements. Clone Y5 can be used to test for retention of the proximally long arm Y suggested to cause gonadal cancer in carrier females. The long series of GA repeats in Y5, anticipated to be polymorphic, may provide a sensitive means to follow Y chromosome variation in human populations.     

Length Variation of Cag/Caa Trinucleotide Repeats in Natural Populations of Drosophila Melanogaster and Its Relation to the Recombination Rate

Eleven genes distributed along the Drosophila melanogaster chromosome 2 and showing exonic tandem repeats of glutamine codons (CAG or CAA) were surveyed for length variation in a sample of four European and African populations. Only one gene was monomorphic. Eight genes were polymorphic in all populations, with a total number of alleles varying between five and 12 for 120 chromosomes. The average heterozygozity per locus and population was 0.41. Selective neutrality in length variation could not be rejected under the assumptions of the infinite allele model. Significant population subdivision was found though no geographical pattern emerged, all populations being equally different. Significant linkage disequilibrium was found in four out of seven cases where the genetic distance between loci was <1 cM and was negligible when the distance was larger. There is evidence that these associations were established after the populations separated. An unexpected result was that variation at each locus was independent of the coefficient of exchange, although the latter ranged from zero to the relatively high value of 6.7%. This would indicate that background selection and selective hitchhiking, which are thought to affect levels of nucleotide substitution polymorphism, have no effect on trinucleotide repeat variation.     

Reproductive modes,ploidy distribution,and supernumerary chromosome frequencies of the flatworm Polycelis nigra (Platyhelminthes: Tricladida)

The hermaphroditic flatworm, Polycelis nigra, is characterized by two reproductive biotypes which differ with respect to ploidy; sexual individuals are diploid (n = 8, 2× = 16) and pseudogamous parthenogenetic individuals are polyploid (typically 3×). We have collected and karyotyped individuals from 15 sampling sites (13 in mid to northern Italy, one in Great Britain and one in The Netherlands). We found that biotypes can exist alone or in sympatry, and identified purely diploid, mixed diploid-polyploid, and purely polyploid populations. Karyotype data show that in addition to the normal autosome complement, B chromosomes of differing morphology as well as stable aneuploid chromosomes (extra-A) were found almost exclusively in polyploids (11 of 12 sites). We extensively sampled Lago di Toblino (northern Italy), a pure polyploid population characterized by a submetacentric to metacentric, mitotically stable B chromosome, as well as a stable extra-A chromosome. Here, individuals having 1–3 B chromosomes were more abundant (61%) than those having no B's, implying that B chromosome infection has little detrimental effect when occurring in low numbers. Furthermore, 66% of individuals from this population possessed extra-A chromosomes, although it is unclear whether these elements are aneuploid autosomes or B chromosomes of different morphology. The ubiquity of these chromosomes, within asexuals in particular, is suggestive of a correlation between the origination of the elements and the evolution of polyploidy, or may reflect increased tolerance of parthenogenetic genomes to aneuploidy. This revised version was published online in July 2006 with corrections to the Cover Date.     

不同致害性褐飞虱种群的DNA多态性研究

采用RAPD-PCR方法,对分别在水稻品种TN1、Mudgo和ASD7上纯化82代的3个不同致害性褐飞虱种群的基因组DNA多态性进行了分析。从205个RAPD引物中筛选出了具种群特异性的引物10个,结果表明： 尽管未达到统计意义上的显著差异,雌、雄两性试虫种群间的遗传多样性一般高于种群内,种群内的多样性则以未经抗性品种筛选的TN1种群最高。用相似性系数进行类平均距离法聚类,能将同一致害性种群的各个个体与其他致害种群分开,雌、雄虫均无一例外,表明不同致害性种群间存在明显的遗传分化;同时雌、雄两性试虫分别归为2组,提示褐飞虱致害性遗传可能与性染色体连锁。不同致害性种群存在特有条带,有可能用于进一步建立褐飞虱个体致害性检测的分子标记。