Banding patterns of the chromosomes of two new karyotypes of the owl monkey, Aotus, captured in Panama.

Two new chromosome complements of Aotus trivirgatus griseimembra are described making a total of five different karyotypes observed in this subspecies inhabiting Panama and the northwestern part of Colombia, South America. Detailed comparisons of the G-banded chromosomes of these five karyotypes suggest that the polymorphism of chromosome numbers 56 and 55 in Panamanian Aotus and 54, 53, and 52 in Colombian Aotus stems primarily from a Robertsonian translocation mechanism involving pairs B13 and B14 (or A1). A second Robertsonian translocation mechanism involving pairs B28 and B29 (or A2) constitutes the karyotypic differences between the two chromosomal races.     

Numerical and structural variations of the X chromosomes and no. 2 autosomes in mandarin vole, Microtus mandarinus (Rodentia)

Here we describe our studies on Microtus mandarinus faeceus of Jiangyan in Jiangsu province of China. By karyotype and G-banding analysis we have found variation in chromosome number and polymorphisms of the X chromosome and the second pair of autosomes of the subspecies. Chromosome number of the subspecies is 2n=47-50. The subspecies has three kinds of chromosomal sex: XX, XO and XY, among which one of the X chromosomes is subtelocentric (X(ST)) and the other is metacentric (X(M)). After comparing karyotypes of different subspecies, we found the specific cytogenetic characteristics of Microtus mandarinus, that is they have three kinds of chromosomal sex: XX, XO and XY; X chromosomes are heteromorphic; the chromosome number of female individuals are one less than male individuals; chromosome number of XX individuals are equal to that of XO ones. We hypothesize that Robertsonian translocation is the main reason of the polymorphism of the second pair of autosomes and variety of chromosome number, and it also causes the chromosome number evolution in different subspecies of Microtus mandarinus.     

Karyotype evolution in the genus Ellobius (Microtinae, Rodentia)]

Comparative analysis was undertaken of the pattern of G-dyed chromosome sets of three Ellobius species: E. tancrei, E. fuscocapillus, E. lutescens with respective diploid chromosome numbers 54, 36, 17. From the data obtained one can envisage probable evolutionary pathway of the Ellobius karyotype. Variability in chromosome numbers of this genus species was shown to be a result of both centromeric and centromeric-telomeric as well as telomeric translocations of originally acrocentric chromosomes. No combinations of acrocentric chromosomes of the E. tancrei Robertsonian fan were found in the karyotypes of E. fuscocapillus and E. lutescens, which points to independence of the evolutionary processes in the Ellobius genus taking different routes. The data are obtained to the effect that evolution of the genus Ellobius was accompanied by increase in the amount of C-heterochromatin.     

Recombination Suppression by Heterozygous Robertsonian Chromosomes in the Mouse

Robertsonian chromosomes are metacentric chromosomes formed by the joining of two telocentric chromosomes at their centromere ends. Many Robertsonian chromosomes of the mouse suppress genetic recombination near the centromere when heterozygous. We have analyzed genetic recombination and meiotic pairing in mice heterozygous for Robertsonian chromosomes and genetic markers to determine (1) the reason for this recombination suppression and (2) whether there are any consistent rules to predict which Robertsonian chromosomes will suppress recombination. Meiotic pairing was analyzed using synaptonemal complex preparations. Our data provide evidence that the underlying mechanism of recombination suppression is mechanical interference in meiotic pairing between Robertsonian chromosomes and their telocentric partners. The fact that recombination suppression is specific to individual Robertsonian chromosomes suggests that the pairing delay is caused by minor structural differences between the Robertsonian chromosomes and their telocentric homologs and that these differences arise during Robertsonian formation. Further understanding of this pairing delay is important for mouse mapping studies. In 10 mouse chromosomes (3, 4, 5, 6, 8, 9, 10, 11, 15 and 19) the distances from the centromeres to first markers may still be underestimated because they have been determined using only Robertsonian chromosomes. Our control linkage studies using C-band (heterochromatin) markers for the centromeric region provide improved estimates for the centromere-to-first-locus distance in mouse chromosomes 1, 2 and 16.     

Recombination map of the common shrew, Sorex araneus (Eulipotyphla, Mammalia)

The Eurasian common shrew (Sorex araneus L.) is characterized by spectacular chromosomal variation, both autosomal variation of the Robertsonian type and an XX/XY(1)Y(2) system of sex determination. It is an important mammalian model of chromosomal and genome evolution as it is one of the few species with a complete genome sequence. Here we generate a high-precision cytological recombination map for the species, the third such map produced in mammals, following those for humans and house mice. We prepared synaptonemal complex (SC) spreads of meiotic chromosomes from 638 spermatocytes of 22 males of nine different Robertsonian karyotypes, identifying each autosome arm by differential DAPI staining. Altogether we mapped 13,983 recombination sites along 7095 individual autosomes, using immunolocalization of MLH1, a mismatch repair protein marking recombination sites. We estimated the total recombination length of the shrew genome as 1145 cM. The majority of bivalents showed a high recombination frequency near the telomeres and a low frequency near the centromeres. The distances between MLH1 foci were consistent with crossover interference both within chromosome arms and across the centromere in metacentric bivalents. The pattern of recombination along a chromosome arm was a function of its length, interference, and centromere and telomere effects. The specific DNA sequence must also be important because chromosome arms of the same length differed substantially in their recombination pattern. These features of recombination show great similarity with humans and mice and suggest generality among mammals. However, contrary to a widespread perception, the metacentric bivalent tu usually lacked an MLH1 focus on one of its chromosome arms, arguing against a minimum requirement of one chiasma per chromosome arm for correct segregation. With regard to autosomal chromosomal variation, the chromosomes showing Robertsonian polymorphism display MLH1 foci that become increasingly distal when comparing acrocentric homozygotes, heterozygotes, and metacentric homozygotes. Within the sex trivalent XY(1)Y(2), the autosomal part of the complex behaves similarly to other autosomes.     

Nondisjunction and transmission ratio distortion ofChromosome 2 in a (2.8) Robertsonian translocation mouse strain

Aneuploidy results from nondisjunction of chromosomes in meiosis and is the leading cause of developmental disabilities and mental retardation in humans. Therefore, understanding aspects of chromosome segregation in a genetic model is of value. Mice heterozygous for a (2.8) Robertsonian translocation were intercrossed with chromosomally normal mice and Chromosome 2 was genotyped for number and parental origin in 836 individuals at 8.5 dpc. The frequency of nondisjunction of this Robertsonian chromosome is 1.58%. Trisomy of Chromosome 2 with two maternally derived chromosomes is the most developmentally successful aneuploid karyotype at 8.5 dpc. Trisomy of Chromosome 2 with two paternally derived chromosomes is developmentally delayed and less frequent than the converse. Individuals with maternal or paternal uniparental disomy of Chromosome 2 were not detected at 8.5 dpc. Nondisjunction events were distributed randomly across litters, i.e., no evidence for clustering was found. Transmission ratio distortion is frequently observed in Robertsonian chromosomes and a bias against the transmission of the (2.8) Chromosome was detected. Interestingly, this was observed for female and male transmitting parents.     

Nucleolus organizer activity and the origin of Robertsonian translocations.

Chromosomes with active nucleolus organizer regions (NOR's) were identified by combined Q-banding (in some cases), and silver staining in mouse cell lines. NOR-bearing chromosomes were overrepresented among the chromosomes involved in Robertsonian translocations in LM(TK-), A9, and RAG cell lines. Usually only one NOR-bearing chromosome was seen in any biarmed chromosome; relatively few contained two NOR-bearing chromosomes. Thus the nucleolus plays an important role, but nucleolar fusion is relatively unimportant, in the origin of Robertsonian translocations in the mouse.     

鹿科动物的染色体组型及其进化

染色体是遗传物质的主要携带者。在动植物进化过程中,染色体在数量和结构上的变化,无疑对物种形成起重要的作用。染色体的变化往往引起基因的重新排列和遗传物质的增加或丢失。染色体在结构和数量上的差异还往往造成两个本来很相近的群体间的生殖隔离而形成新种。染色体组型和染色体的带型都代表着种的特性,它为不同动物在分类研究和确定其在进化过程中的位置提供了一个新的和重要的标准。可是,染色体的结构既是稳定的,同时又是可变的。染色体组型的改变是以染色体组的结构特点为基础     

Polymorphism and divergence of karyotypes in taimens of the Hucho genus

Karyotypes of Siberian taimen Hugo taimen from the Manoma River (Amur basin) were investigated. The karyotypes examined differed in chromosome number from 2n = 82 to 2n = 83; chromosome arm number was NF = 112. These differences, as well as the difference in the karyotype of Siberian taimen from the lower flow of the Amur River (2n = 84) described earlier, are due to Robertsonian polymorphism of one pair of large submetacentric chromosomes. The nucleolus organizer regions are located on the short arms of one or two subtelocentric chromosomes of different pairs. The probable sequence of karyotype divergence in taimens of the Hugo genus is discussed.     

Chromosome polymorphism and constitutive heterochromatin in the Atlantic salmon,Salmo salar

Chromosome preparations from lymphocyte cultures of 30 Atlantic salmon were studied. Robertsonian polymorphisms were observed with different individuals having diploid numbers of 56, 57 and 58 but a constant arm number of 74. C-banding shows constitutive heterochromatin at the centromeres, associated with the satellites on a small pair of metacentric chromosomes and in the interstitial regions of the long arms of a number of chromosomes.     

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.     

Phylogenetic analysis of G-banded karyotypes among the South American subterranean rodents of the genus Ctenomys (Caviomorpha: Octodontidae), with special reference to chromosomal evolution and speciation

The chromosomes of subterranean rodents of the South American genus Ctenomys are highly variable with diploid numbers ranging from 10 to 70. The phylogenetic relationships of this group have been analysed cladistically using G-banded karyotypes as have the chromosomal rearrangements involved in its karyotypic differentiation. One group, called the 'Corrientes group', has very variable chromosomes but low allozymic and morphological differentiation among its members. This group has been analysed with respect to chromosomal speciation. Using a member of another subfamily (Octodontomys gliroides) as an outgroup, the results indicate that karyotypes with low diploid and fundamental numbers are plesiomorphic. The range of diploid numbers studied here is between 22 and 70, while the fundamental numbers are between 40 and 86. It was found that the main chromosomal rearrangement that transforms karyotypes towards higher diploid and fundamental numbers is the acquisition of new chromosomal material via unknown mechanisms, followed by pericentric inversions that generate new chromosomal arms, centric fusions and centric fissions. In spite of their low differentiation regarding allozymic and morphological features, it was found that the karyomorphs of the Corrientes group have enough chromosomal differentiation to consider them as distinct species. Beside the range of diploid and fundamental numbers of this group (42–70 and 80–84 respectively), their pairwise chromosomal differences are high. The most closely related of them differ in one nonhomologous arm, one Robertsonian change and a whole chromosome duplication. The most differentiated taxa differ in 20 arms with lack of homology, 12 Robertsonian changes (one with monobrachial homology), six pericentric inversions and the above mentioned probable arm duplication. For these reasons, it is probable that some kind of chromosomal speciation has occurred in the Corrientes group.     

Analysis of centromeric activity in Robertsonian translocations: implications for a functional acrocentric hierarchy

Approximately 90% of human Robertsonian translocations occur between nonhomologous acrocentric chromosomes, producing dicentric elements which are stable in meiosis and mitosis, implying that one centromere is functionally inactivated or suppressed. To determine if this suppression is random, centromeric activity in 48 human dicentric Robertsonian translocations was assigned by assessment of the primary constrictions using dual color fluorescence in situ hybridzation (FISH). Preferential activity/constriction of one centromere was observed in all except three different rearrangements. The activity is meiotically stable since intrafamilial consistency of a preferentially active centromere existed in members of six families. These results support evidence for nonrandom centromeric activity in humans and, more importantly, suggest a functional hierarchy in Robertsonian translocations with the chromosome 14 centromere most often active and the chromosome 15 centromere least often active.     

A new mechanism for altering chromosome number during karyotype evolution

Summary A new mechanism for changing chromosome numbers (preserving the fundamental number of long chromosome arms) during karyotype evolution is suggested. It includes: 1) Occurrence of individuals heterozygous for two interchanges between different arms of three chromosomes (a metacentric and two acrocentric ones). 2) Formation in heterokaryotypes of multivalents during meiosis between the chromosomes involved in the interchanges and their unchanged homologues. 3) Mis-segregation of chromosomes from these multivalents resulting in hypoploid (n-1) and hyperploid (n+1) simultaneously instead of euhaploid gametes. 4) Fusion of n-1 or n+1 gametes which gives rise to (zygotes and) individuals representing homokaryotypes with changed number of chromosomes (2n+2 or 2n-2), but preserves (as compared to the parental karyotypes) the number of long chromosome arms. Under definite conditions, chromosome numbers of the progeny may be changed by this process in both directions (upwards and downwards). The mechanism is free of the difficulties associated with the explanation for such changes by direct Robertsonian interchanges (see Discussion), which are usually considered to be responsible for such alterations in chromosome number. The above-mentioned process has been experimentally documented in Vicia faba and it probably also occurred naturally within the Vicia sativa group.     

Karyotypic diversification due to Robertsonian rearrangements in Phyllodactylus lanei Smith, 1935 (Squamata, Gekkonidae) from Mexico

We analyzed chromosomes of male and female individuals of Phyllodactylus lanei Smith, 1935 (Squamata, Gekkonidae) from Chamela-Cuixmala Biosphere Reserve, Jalisco state, Mexico. The karyotype constructed for these specimens is composed of 19 pairs of telocentric chromosomes (2n = 38, FN = 38). This karyotype, due to Robertsonian fusions/fissions, differs from the one previously reported in samples from the State of Guerrero, which probably belonged to a different subspecies (2n = 33−34, FN = 40−41). Moreover, a presumed ZW sex chromosome system was not confirmed in the presently studied individuals.      

Nondisjunction, disturbances in spindle structure, and characteristics of chromosome alignment in maturing oocytes of mice heterozygous for Robertsonian translocations

To correlate the chromosomal constitution of meiotic cells with possible disturbances in spindle function and the etiology of nondisjunction, we examined the spindle apparatus and chromosome behavior in maturing oocytes and analyzed the chromosomal constitution of metaphase II-arrested oocytes of CD/Cremona mice, which are heterozygous for a large number of Robertsonian translocation chromosomes (18 heterobrachial metacentrics in addition to two acrocentric chromosomes 19 and two X chromosomes). Spreading of oocytes during prometaphase 1 revealed that nearly all oocytes of the heterozygotes contained one large ring multivalent, apart from the bivalents of the two acrocentric chromosomes 19 and the X chromosomes, indicating that proper pairing and crossing-over between the homologous chromosome arms of all heterobrachial chromosomes took place during prophase. A large proportion of in vitro-matured oocytes arrested in metaphase II exhibited numerical chromosome aberrations (26.5% hyperploids, 40.8% hypoploids, and 6.1% diploids). In addition, some of the oocytes with euploid chromosome numbers (26.5% of the total examined) appeared to be nullisomic for one chromosome and disomic for another chromosome, so that aneuploidy levels may even be higher than expected on the basis of chromosome counts alone. Although oocytes of the complex heterozygous mice seemed able initially to form a bipolar spindle during first prometaphase, metaphase I spindles were frequently asymmetrical. Chromosomes in the multivalent did not align properly at the equator, centromeres of neighboring chromosomes in the multivalent remained maloriented, and pronounced lagging of chromosomes was observed at telophase I in oocytes obtained from the Robertsonian translocation heterozygotes. Therefore, disturbance in spindle structure and chromosome behavior appear to correlate with the chromosomal constitution in these oocytes and, ultimately, with failures in proper chromosome separation. In particular, reorientation appears to be a rare event, and malorientation of chromosomes may remain uncorrected throughout prometaphase, as we could not find many typical metaphase I stages in heterozygotes. This, in turn, could be the basis for malsegregation at anaphase and may ultimately induce a high rate of nondisjunction and aneuploidy in the oocytes of CD/Cremona mice, leading to total sterility in heterozygous females.     

Chromosomal polymorphism of mandarin vole,Microtus mandarinus (Rodentia)

The mitotic and meiotic chromosomes of mandarin vole, Microtus mandarinus Milne-Edwards, from Shandong Province of China were analyzed by conventional, G- and C-banding and Silver-staining techniques. We detected chromosomal polymorphism in the vole, exhibiting diploid chromosome numbers 2n = 48-50 and variable morphology of the 1st pair, one medium sized telocentric pair and the X chromosomes. Four types of karyotypes were revealed in the population. According to banding analysis, there were pericentric inversion, Robertsonian fusion and translocation in M. mandarinus karyotype evolution. The X displayed two different morphologies, which could be explained by prericentric inversion and a telocentric autosome translocation.     

Flow cytometry isolation and improved visualization of sorted mouse chromosomes. Purification of chromosomes X and ISO-1 from cell lines with Robertsonian translocations

While analysis and sorting of human chromosomes by flow cytometry has been widely used, isolation of a pure mouse chromosome remains very difficult, since most murine chromosomes are quite similar in size. To overcome this problem, we have analysed mouse cell lines having either Robertsonian translocations or isochromosomes. The resulting metacentric chromosomes are very different in size and in morphology from normal mouse acrocentric chromosomes. These characteristics have been analysed by computer-monitored flow cytometry, facilitated by improvements in the chromosome extraction procedure. Signals characteristic of the iso-lq chromosome in cell line PCC4 azaR1, and of the normal X chromosome in the mouse strain 22CD have thus been obtained. These chromosomes have been sorted and can be easily recognized by fluorescence microscopy when collected onto serum-albumin-coated microscope slides. The technical modifications made, coupled with the existence of a great diversity of metacentric chromosomes resulting from Robertsonian translocations, should allow the purification of a number of different mouse chromosomes.     

Contributions to the cytotaxonomy of the Commelinaceae. Chromosome evolution in Tradescantia section Cymbispatha

The five species of Tradescantia section Cymbispatha studied, including one species T. poelliae D. R. Hunt, have chromosome numbers of In = 12, 14, 16, 22, 28, 30 and 36 and karyotypes of acrocentric, metacentric or telocentric chromosomes, or mixtures of both acrocentric and metacentric chromosomes. The numbers of major chromosome arms of these cytotypes give a nombre fondamentaP series of 14, 28, 42 and 56 which, in combination with meiotic analyses, indicates plants which, in genetical terms at least, are diploid, tetraploid, hexaploid and octoploid. This series has evolved from a 2 n = 14 acrocentric or telocentric karyotype by a combination of Robertsonian fusion and polyploidy. Pseudo-iso-chromosomes are sometimes formed in this evolutionary development and can persist as stable members of normal complements.     

Contributions to the cytotaxonomy of the Commelinaceae. Chromosome evolution in Tradescantia section Cymbispatha

The five species of Tradescantia section Cymbispatha studied, including one species T. poelliae D. R. Hunt, have chromosome numbers of In = 12, 14, 16, 22, 28, 30 and 36 and karyotypes of acrocentric, metacentric or telocentric chromosomes, or mixtures of both acrocentric and metacentric chromosomes. The numbers of major chromosome arms of these cytotypes give a nombre fondamentaP series of 14, 28, 42 and 56 which, in combination with meiotic analyses, indicates plants which, in genetical terms at least, are diploid, tetraploid, hexaploid and octoploid. This series has evolved from a 2 n = 14 acrocentric or telocentric karyotype by a combination of Robertsonian fusion and polyploidy. Pseudo-iso-chromosomes are sometimes formed in this evolutionary development and can persist as stable members of normal complements.