Spontaneous translocations between B chromosomes and the normal complement in the grasshopper Eyprepocnemis plorans

A translocation between a B chromosome and a medium-size autosome and a centric fusion between the B and the X chromosome were found in two different natural populations of Eyprepocnemis plorans. The cytological behaviour of both interchanges is described and discussed. These interchanges are highly asymmetrical and may be the beginning of an integration of B chromosomes into the genome of this species.     

Maize tertiary trisomic stocks derived from B-A translocations

Reciprocal translocations between supernumerary B chromosomes and the basic complement of A chromosomes in maize have resulted in a powerful set of tools to manipulate the dosage of chromosomal segments. From 15 B-A reciprocal translocation stocks that have the B-A chromosome genetically marked we have developed tertiary trisomic stocks. Tertiary trisomics are 2n + 1 aneuploids where the extra chromosome is a translocation element, in this case a B-A chromosome. Whereas B-A translocations produce aneuploidy in the sperm, the tertiary trisomic plant efficiently transmits hyperploid gametes maternally. Because the B-A tertiary trisomic stocks and the B-A translocation stocks from which they were derived are introgressed into the W22 inbred line, the effects of maternally and paternally transmitted trisomic B-A chromosomes can be compared. Data are presented on both the male and female transmission rates of the B-A chromosomes in the tertiary trisomic stocks.     

Unstable inheritance of maize B-type chromosomes that lack centric heterochromatin.

The B chromosome of maize undergoes frequent non-disjunction at the second pollen mitosis. In B-A translocations, the B-A chromosome retains the capacity for non-disjunction. We have collected deletion-derivative TB-9Sb stocks. One derivative, the "type 1 telocentric", has a B-9 chromosome that lacks centric heterochromatin. It produces few recessive (non-disjunctional) phenotypes in pollen parent testcrosses of the translocation heterozygote, 9 9-B telo B-9. The finding helped demonstrate the role of centric heterochromatin in non-disjunction. An isochromo some derivative of the type 1 telocentric was also recovered. It was tested in the 9-B 9-B iso B-9 constitution. This is equivalent to 9 9-B telo B-9 in terms of chromosome 9 dosage. Surprisingly, crosses with the isochromosome gave significant levels of recessive phenotypes. In addition, high levels of variegated phenotypes were found. Recently, a circumstance was found that makes inheritance of the type 1 telocentric chromosome somewhat similar to that of the isochromosome. Crosses with hypoploid 9-B 9-B telo B-9 plants showed significant levels of recessive and variegated phenotypes. These crosses were investigated to help explain the source(s) of the phenotypes. Cytological and genetic studies were performed. Centric misdivision was found to account for the variegated phenotypes. A mixture of conventional B non-disjunction and centric misdivision produced the recessive phenotypes. The significance of conventional non-disjunction in the absence of centric heterochromatin is discussed.     

Construction and uses of new compound B-A-A maize chromosome translocations

Maize B-A translocations result from reciprocal interchanges between a supernumerary B chromosome and an arm of an essential A chromosome. Because of the frequent nondisjunction of the B centromere at the second pollen mitosis, B-A translocations have been used to locate genes to chromosome arms and to study the dosage effects of specific A segments. Compound B-A translocations (B-A-A translocations) are created by bringing together a simple B-A translocation with an A-A translocation in which breakpoints in the A-A and B-A translocations are in the same arm. Recombination in the region of shared homology of these A chromosome segments creates a B-A-A translocation. Success in creating and testing for a new B-A-A translocation requires that the B-A translocation be proximal to the A-A translocation and that the A-A translocation be proximal to the tester locus. The breakpoints of most of the A-A translocations have been cytologically defined by earlier investigators. Previous investigators have produced 16 B-A-A translocations and one B-A-A-A translocation, which collectively define 35 A chromosome breakpoints. We have enlarged this group by creating 64 new B-A-A translocations. We present a summary of the total of 81 B-A-A translocations showing their distribution among the chromosome arms and the 163 cytologically defined chromosome segments delimited by them. We also illustrate the method of construction of these B-A-A stocks and their uses.     

Chromosomal evolution in the vlei rat, Otomys irroratus (Muridae: Otomyinae): a compound chromosomal rearrangement separates two major cytogenetic groups

G- and C-banding delimits two cytogenetic groups within the vlei rat, Otomys irroratus. One has a diploid number of 2n = 24, resulting from a centric fusion of chromosomes 7 and 12 of the O. irroratus standard coupled with a tandem fusion to chromosome 8. The second has a diploid number of 2n = 28, lacks the compound chromosome, and appears to have a far wider geographic distribution within South Africa. Additionally, the two groups differ through the presence of cytotype-specific heterozygous centric fusions and one to three B chromosomes which appear as floating polymorphisms in the 2n = 28 complex.     

Chromosome evolution and phylogeny in Ronderosia (Orthoptera,Acrididae, Melanoplinae): clues of survivors to the challenge of sympatry?

In an attempt to unveil the origin of neo‐sex chromosomes in Ronderosia Cigliano grasshoppers, we performed a combined phylogenetic analysis based on morphological (external morphology and male genitalia) and molecular data (COI, COII, 16S and ITS2) to explore the chromosome evolution within the genus. We also analysed the distributional patterns of the various Ronderosia species and considered the possible role of chromosome rearrangements (CRs) in speciation processes within the genus in the light of ‘suppressed‐recombination’ models. We mapped the states of three chromosomal characters on the combined tree topology. The combined evidence supported Ronderosia as a monophyletic group. The cytogenetic analyses of the genus demonstrated the importance of rearranged karyotypes with single, complex and multiples neo‐sex chromosome determination systems in all species. The chromosome character optimisation suggests X‐autosome centric fusion as the mechanism responsible for neo‐sex chromosome formation in most Ronderosia species, except in R. dubia and R. bergii. Similar autosomes were involved in fusions with the ancestral X chromosome in Ronderosia, supporting previous hypotheses on the unique origin of X‐autosome fusion for the sex chromosome in the genus. As a source of chromosome variation, autosome‐autosome centric fusion played a secondary role in Ronderosia compared with other Dichroplini. Given the homogeneity in the morphological features, the sympatric distribution of closely related species and the intrinsic property of centric fusion as suppressors of the crossing over, we suggest that CRs may have played a key role during the speciation process within Ronderosia.     

Cytological variation and evolution withinPelargonium sectionHoarea (Geraniaceae)

Chromosome numbers of 65 species of sect.Hoarea have been determined. These show three basic chromosome numbers, x = 11, 10 and 9. Only a few species are tetraploid. In five species both diploid and tetraploid cytotypes are reported. Several cases of deviations in chromosome numbers and cytological abnormalities were found, most of these being related to the presence of B chromosomes that occur in eight species. Evidence is presented to suggest that the basic chromosome numbers of x = 10 and x = 9 are derived from x = 11 by centric fusion. Although variation in basic chromosome number withinPelargonium has been the subject of detailed study, this is the first time that evidence has been found for a mechanism of change in basic number, that of centric fusion by Robertsonian translocation. For the species of sect.Hoarea with x = 9, where the evidence for Robertsonian translocation is greatest, this process has probably taken place quite recently. In contrast to results from other sections of the genusPelargonium, the three different basic numbers of sect.Hoarea do not contradict its delimitation as a natural taxon.     

Dosage effects on morphological and quantitative traits in maize aneuploids.

Dosage effects generated by either loss or gain of a chromosome segment were used to identify chromosome regions associated with morphological and quantitative characters in maize (Zea mays L.). Using B-A translocation stocks introgressed into a B73Ht background, a chromosome arm dosage series in a Mo17Ht x B73Ht F1 hybrid background was created for 18 of the 20 chromosome arms. The dosage series was then evaluated for 12 quantitatively inherited characters to associate specific phenotypic changes in a trait with a specific chromosome arm. Not only did our results show the familiar aneuploid syndrome phenomenon, but differential dosage effects among particular chromosome arms were demonstrated. All the quantitative traits measured and all the chromosome arms examined in this study were responsive to changes in chromosome arm dosage. The possible bases behind those differences and their utility in identifying quantitative trait loci, as well as the genetic relationships among the group of quantitatively inherited characters studied, are considered. Key words : corn, chromosome arm, B-A translocations, dosage analysis.     

A nucleolus organizer region in a B chromosome inactivated by DNA methylation

Chromosomal DNA methylation patterns were determined in the grasshopper Eyprepocnemis plorans by in situ digestion with MspI and HpaII. While no methylated regions were observed in standard chromosomes, the B chromosome was methylated in the distal third of its long arm. In this zone the B chromosome had an active nucleolus organizer region (NOR) in a male carrying a centric fusion between the B and the longest autosome, and it was not methylated. This NOR, however, was never observed in the active form in nonfused B chromosome, possibly because of methylation of this B chromosome region.by J.H. Taylor     

A robertsonian translocation in the fresh-water triclad Dugesia lugubris: karyometric analysis and evolutionary inferences

Biotype E of Dugesia lugubris has a haploid complement of 4, comprising 3 acrocentrics of different length and a short chromosome; biotype F has a haploid complement of 3, with a long metacentric, an acrocentric and a short chromosome. A karyometrical analysis has shown that the metacentric chromosome of biotype F derived from a centric fusion between the acrocentrics 1 and 3 of biotype E. — The evolutionary meaning of this centric fusion is discussed.     

Genetic variation in dosage effects in maize aneuploids.

In maize (Zea mays L.), the consequences of aneuploidy have been well documented, however, genetic variation in the responses to aneuploidy has not been examined. Using simple B-A translocation stocks to generate a dosage series involving segments from 14 chromosome arms, we tested for the presence of genetic variation for dosage responses in maize by examining reciprocal and maternal genotype effects on the dosage responses. Reciprocal effects examined whether there were differences between two distinctly different inbred backgrounds, Mo17Ht and B73Ht, in how they responded to loss or gain of a B73Ht segment in the Mo17Ht x B73Ht (TB) F1 cross versus a Mo17Ht segment in the B73Ht x Mo17Ht (TB) F1 cross. Maternal genotype effects questioned whether different inbred backgrounds, Sc41R, T8, and either Mo17Ht or B73Ht (depending on the male), when used as females responded differently to the loss or gain of a chromosome arm segment from the same male (either B73Ht TB or Mo17Ht TB) in an F1 cross. Numerous examples of reciprocal and maternal genetic effects were identified in this study. Most of the genetic effects were due to differences in magnitude of response rather than direction; however, tassel-branch number involving the 5S chromosome segment in the B73Ht male background and the 7L chromosome segment in the Mo17Ht male background showed a trend toward the maternal genotype effects being due to differences in the direction of the response. Key words : quantitative traits, corn, B-A translocations, dosage analysis.     

Chromosomal rearrangements in rock wallabies, Petrogale (Marsupialia: Macropodidae). VII. G-banding analysis of Petrogale brachyotis and P. concinna: species with dramatically altered karyotypes.

G-banded metaphase preparations of cultured fibroblasts were used to construct the karyotypes of Petrogale brachyotis (2n = 18) and P. concinna (2n = 16). The two karyotypes differ significantly from the plesiomorphic karyotype of the genus and from those of all other Petrogale species examined. Petrogale brachyotis and P. concinna are characterised by three synapomorphies: a 1-10 centric fusion, a 3a-6 centric fusion, and a submetacentric chromosome 2 (2s). Both species also possess autapomorphies. Petrogale brachyotis is characterised by submetacentric chromosomes 5 (5s) and 4 (4sm), whereas P. concinna is characterised by a 5-9 centric fusion and a submetacentric chromosome 8 (8m). The 2s, 5s, 4sm, and 8m chromosomes all appear to be derived from their plesiomorphic homologs by centromeric transpositions. Although the rate of chromosome evolution varies considerably in Petrogale, the genus clearly exhibits karyotypic orthoselection, with all the autosomal rearrangements identified being either centric fusions or centromeric transpositions. This study also illustrates the potential for convergent evolution in chromosomally diverse groups and demonstrates the importance of G-banding studies for accurate identification of chromosome rearrangements.     

Karyotype, centric fusion polymorphism and chromosomal aberrations in captive-born mountain reedbuck (Redunca fulvorufula)

Chromosomes of fourteen captive-born mountain reedbucks (Redunca fulvorufula) have been investigated. The diploid chromosome number was 2n = 56 (FN = 60). The mountain reedbuck karyotype consists of 26 acrocentric and two biarmed chromosome pairs resulting from two centric fusions involving chromosomes 2 and 25, and 6 and 10, respectively. In some animals, 57 chromosomes were detected. Variation in the diploid number was found to be due to polymorphism for the centric fusion 6;10. Both X and Y chromosomes are large and acrocentric. The entire Y chromosome and the proximal part of the X chromosome consist of heterochromatin. The chromosomes X, 9 and 14 appeared to be of caprine type. Chromosome aberrations have been detected in two of the 14 animals investigated. A de novo formed Robertsonian translocation rob(6;13) was found in one female heterozygous for the fusion 6;10. CBG-banding revealed one block of centromeric heterochromatin in the de novo formed translocation rob(6;13) and also in the evolutionarily fixed centric fusions 6;10 and 2;25. One examined male homozygous for fusion 6;10, had a mosaic 56,XY/57,XYY karyotype, with 11% of analyzed cells containing two Y chromosomes. The findings were confirmed by cross-species fluorescence in situ hybridization (FISH) with bovine (Bos taurus L.) chromosome painting probes. The study demonstrates the relevance of cytogenetic screening in captive animals from zoological gardens.     

Episodic chromosomal evolution in Planipapillus (Onychophora: Peripatopsidae): a phylogenetic approach to evolutionary dynamics and speciation

Planipapillus, a clade of onychophorans from southeastern Australia, exhibits substantial chromosomal variation. In the context of a robust phylogeny based on nuclear and mitochondrial sequence data, we evaluate models of chromosomal evolution and speciation that differ in the roles assigned to selection, mutation, and drift. Permutation tests suggest that all chromosome rearrangements in the clade have been centric fusions and, on the basis of parsimony and maximum-likelihood methods with independent estimates of branch lengths, we conclude that at least 31 centric fusions have been fixed in Planipapillus. A likelihood-ratio test approach, which is independent of our point estimates of ancestral states, rejects an evolutionary model in which the mutation rate is constant and centric fusions are effectively neutral. In contrast to the nucleotide sequence data, which are consistent with neutrality and rate constancy, centric fusions in Planipapillus are underdominant, spontaneous fusion rates vary among lineages, or both. We predict an inverse relationship between rates of chromosomal evolution and historical population size. Chromosomal evolution may play a role in speciation in Planipapillus, both by interactions between centric fusions with monobrachial homology and by the accumulation of multiple weakly underdominant fusions.     

DNA breaks promote genomic instability by impeding proper chromosome segregation

BACKGROUND: Unrepaired DNA double-stranded breaks (DSBs) can result in the whole or partial loss of chromosomes. Previously, we showed that the ends of broken chromosomes remain associated. Here, we have examined the machinery that holds broken chromosome ends together, and we have explored the behavior of broken chromosomes as they pass through mitosis. RESULTS: Using GFP-localized arrays flanking an HO endonuclease site, we examined the association of broken chromosome ends in yeast cells that are checkpoint-arrested in metaphase. This association is partially dependent upon Rad50 and Rad52. After 6-8 hr, cells adapted to the checkpoint and resumed mitosis, segregating the broken chromosome. When this occurred, we found that the acentric fragments cosegregated into either the mother or daughter cell 95% of the time. Similarly, pedigree analysis showed that postmitotic repair of a broken chromosome (rejoining the centric and acentric fragments) occurred in either the mother or daughter cell, but rarely both, consistent with a model in which both acentric sister chromatid fragments are passaged into the same nucleus. CONCLUSIONS: These data suggest two related phenomena: an intrachromosomal association that holds the halves of a single broken sister chromatid together in metaphase and an interchromosomal force that tethers broken sister chromatids to each other and promotes their missegregation. Strikingly, the interchromosomal association of DNA breaks also promotes the missegregation of centromeric chromosomal fragments, albeit to a lesser extent than acentric fragments. The DNA break-induced missegregation of acentric and centric chromosome fragments provides a novel mechanism for the loss of heterozygosity that precedes tumorigenesis in mammalian cells.     

Recombination in the B Chromosome of Maize to Produce a-B-a Chromosomes

The translocations between the supernumerary B chromosomes and the normal A chromosomes of maize provide a valuable tool for gene localizations, dosage studies and characterization of mutants as null, leaky or gain-of-function. A procedure is described, that relies on recombination in the B chromosome, for marking each of the various B-A translocations with a single dominant marker that will allow dosage classifications of individuals at the mature kernel stage. This marker is R-scm3, which conditions anthocyanin pigment in the aleurone of the endosperm and the scutellum of the embryo. A test for recombination in the B chromosome was conducted by crossing together two translocations, that were broken on opposite sides of the B centromere, and in different A chromosome arms, namely TB-1La and TB-10L18. An example was recovered that linked genetic markers on 1L and 10L to the B centromere. Cytological examination at pachytene of meiosis confirmed the new chromosomal linkage. The use of this procedure to produce a comprehensive set of uniformly marked B-A translocations is discussed.     

Physical mapping of four RAPDs in the B chromosome of maize

 Four DNA fragments were amplified specifically from the B chromosome by PCR using random 10-base oligonucleotides as primers. The location of the fragments in the B chromosome was determined based on whether or not they were amplified from the hypo- ploid DNA generated by four B-A translocations, three of which break in the proximal euchromatic region and the fourth in the distal one-third of the heterochromatic region on the B long arm. Since the hypoploid DNA carries the portion of the B chromosome distal to the breakpoint of a translocation, the presence of a fragment in the hypoploid DNA, but not in the control (which is devoid of any B chromatin), indicates that the fragments is located in the B region distal to the breakpoint in the B long arm. Two fragments were mapped to the euchromatic region and two others to either the distal portion of the euchromatic region or the proximal two-thirds of the heterochromatic region. These fragments in turn mapped three B-A translocations whose breakpoints were located in the euchromatic region. Received: 22 May 1996 / Accepted: 30 August 1996     

Three polymorphic chromosome systems of centric fusion type in a population of Manchurian sika deer (Cervus nippon hortulorum Swinhoe)

Chromosome studies of cells from skin and lung cultured in vitro from eleven Manchurian sika deer (Cervus nippon hortulorum Swinhoe) sampled from the population in Woburn deer park, England, revealed variations in the number of chromosomes between individual animals as follows: 2n = 68, 67, 66, 65, and 64. No intraindividual variation was found. The presumably normal chromosome complement (2n = 68) consisted almost exclusively of one-armed or t chromosomes. Only two autosomes and the Y chromosome of the male were two-armed or m chromosomes. The variations in the number of chromosomes in the population were due to centric fusions of one-armed autosomes into two-armed ones, building up three coexisting and integrating polymorphic systems of centric fusion or Robertsonian type.The work was supported by the Swedish Natural Science Research Council.     

A 14/28 dicentric Robertsonian translocation in a Holstein cow

A new dicentric Robertsonian translocation is described in a Holstein cow. The translocation appears to have arisen spontaneously from the centric fusion of autosomal acro centrics 14 and 28 which resulted in a diploid chromosome number of 59. Behavioral and phenotypic anomalies of the affected cow are discussed.     

Telomeres and mechanisms of Robertsonian fusion

The Robertsonian (Rb) fusion, a chromosome rearrangement involving centric fusion of two acro-(telo)centric chromosomes to form a single metacentric, is one of the most frequent events in mammalian karyotype evolution. Since one of the functions of telomeres is to preserve chromosome integrity, a prerequisite for the formation of Rb fusions should be either telomere loss or telomere inactivation. Possible mechanisms underlying the formation of various types of Rb fusion are discussed here. For example, Rb fusion in wild mice involves complete loss of p-arm telomeres by chromosome breakage within minor satellite sequences. By contrast, interstitial telomeric sites are found in the pericentromeric regions of chromosomes originating from a number of vertebrate species, suggesting the occurrence of Rb-like fusion without loss of telomeres, a possibility consistent with some form of telomere inactivation. Finally, a recent study suggests that telomere shortening induced by the deletion of the telomerase RNA gene in the mouse germ-line leads to telomere loss and high frequencies of Rb fusion in mouse somatic cells. Thus, at least three mechanisms in mammalian cells lead to the formation of Rb fusions. Received: 11 November 1997 / Accepted: 21 December 1997