棕色田鼠罗伯逊易位的研究（简报）

The type of chromosome No. 1 and chromosome number from 53 individuals of Microtus mandarinus have been studied and compared in three sex types: XY, XX, XO. We found that the first pair of autosomes are very unstable, and there are three types: (1) M, M (With a double metacentric chromosome), (2) M, T, T, (With single metacentric chromosome). (3) T, T, T, T (Without metacentric chromosome). The chromosome number of the same sex individuals changes regularly with the type change of chromosome No. 1, that is, the increase of one chromosome in 2n number is always accompanied by the increase of two T and the decrease of one M, and vice versa. The synaptonemal complexes (SCs) of spermatocyte in pachytene nuclei from the males (2n = 51) were analysed by the electron microscopy. The SCs studies demonstrate that there are 23 fully paired autosomal bivalents, XY-bivalent and an autosomal trivalent. This trivalent is formed by one metacentric and two telocentric elements and characterized by the presence of two short side-arms. Meanwhile, all trivalents are in a cis configuration. The study of G-banding also demonstrates that the No. 1 autosome polymorphism is caused by Robertsonian translocation. Robertsonian fission is the main reason of the polymorphism of chromosome No. 1 and of variation of chromosome number in M. mandarinus.     

Chiasma frequency,distribution and interference maps of mouse autosomes

Chiasma frequencies were analysed and chiasma positions measured in diakinesis/metaphase I autosomal bivalents from oocytes and spermatocytes of F₁ hybrid C3H/HeH×101/H mice. Twenty chromosome size ranks, including the presumptive X bivalent, could be distinguished in oocytes, and nineteen autosomal ranks plus the XY pair spermatocytes. Overall, mean cell chiasma frequencies of the two sexes did not differ significantly once the contribution of the presumptive X bivalent and the XY pair were taken into account. Sex related differences in chiasma distribution patterns were evident, however. In monochiasmate bivalents, the chiasma was most commonly located interstitially in oocytes while in spermatocytes it could be either interstitial or distal. In dichiasmate bivalents, the chiasmata tended to be more centrally located in oocytes than in spermatocytes. Minimum inter-chiasma distances did not appear to show any great variation in chromosome pairs of different sizes, however, mean inter-chiasma distances did increase with the bivalent length. The minimum-inter chiasma distance data suggest that chiasma interference is complete over a chromosomal segment equating to approximately 60 Mb. Measurement of the positions of chiasmata along chromosome arms open up the possibility of producing chiasma-based genetic maps for all the autosomes of the mouse.     

棕色田鼠罗伯逊易位的研究(简报)

棕色田鼠(Microtus mandarinus Milne-Edwards,1871)又称北方田鼠,主要分布于我国。前苏联、蒙古的少数地区亦有分布,前苏联学者称该鼠为中国田鼠。关于该鼠的染色体研究国内外已有报道。仅推测罗伯逊易位是引起该鼠第一对常染色体多态及其染色体数目多态的主要原因。本文详细研究了该鼠第一对常染色体多态类型与个体染色体数目之间的一一对应关系、性个体(2n=51)的G带带型及其联会复合作中三价体的存在,完全证实了     

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.     

Meiotic studies of Robertsonian heterozygotes from natural populations of the common shrew, Sorex araneus L

Adult male common shrews, both Robertsonian heterozygotes and homozygotes, were collected from Oxford and elsewhere in Britain. In both simple Robertsonian heterozygotes and Robertsonian heterozygotes with monobrachial homology, regular chain configurations were observed at meiosis I; only 1-2% were incomplete such that univalents were observed. On the average, there was one chiasma per chromosome arm among those that displayed Robertsonian variation, including both chain configurations and bivalents. According to one hypothesis, a single chiasma per chromosome arm may facilitate proper disjunction of chain trivalents of simple Robertsonian heterozygotes. Based on metaphase II counts, anaphase I nondisjunction frequency can be estimated as 1.0% per heterozygous individual and 0.7% per heterozygous arm combination.     

Meiotic drive favors Robertsonian metacentric chromosomes in the common shrew (Sorex araneus, Insectivora, mammalia)

Meiotic drive has attracted much interest because it concerns the robustness of Mendelian segregation and its genetic and evolutionary stability. We studied chromosomal meiotic drive in the common shrew (Sorex araneus, Insectivora, Mammalia), which exhibits one of the most remarkable chromosomal polymorphisms within mammalian species. The open question of the evolutionary success of metacentric chromosomes (Robertsonian fusions) versus acrocentrics in the common shrew prompted us to test whether a segregation distortion in favor of metacentrics is present in female and/or male meiosis. Performing crosses under controlled laboratory conditions with animals from natural populations, we found a clear trend toward a segregation distortion in favor of metacentrics during male meiosis, two chromosome combinations (gm and jl) being significantly preferred over their acrocentric homologs. Apart for one Robertsonian fusion (hi), this trend was absent in female meiosis. We propose a model based on recombination events between twin acrocentrics to explain the difference in transmission ratios of the same metacentric in different sexes and unequal drive of particular metacentrics in the same sex. Pooled data for female and male meiosis revealed a trend toward stronger segregation distortion for larger metacentrics. This is partially in agreement with the frequency of metacentrics occurring in natural populations of a chromosome race showing a high degree of chromosomal polymorphism.     

标记减数分裂遗传重组的免疫荧光染色方法

联会复合体免疫荧光技术在全基因减数分裂遗传重组研究中具有精确和直观的优势.本研究通过免疫荧光染色方法制备小鼠精母细胞联会复合体,研究其形态组成与遗传重组特征,展示雄性小鼠遗传重组图谱并分析其重组位点(MLH1位点)的分布特征.4只小鼠共145个精母细胞在平均每个细胞的MLH1位点数为23.3±2.4;在常染色体联会复合体中,未发现有3个MLH1位点的联会复合体,具有1个MLH1位点的联会复合体较多,平均为14.2;无XY联会复合体的细胞占所有细胞的4.1%,XY联会复合体上有MLH1位点的细胞占30.2%;联会复合体上有裂缝的细胞占0.7%.通过联会复合体免疫荧光染色可以清晰地分辨出联会复合体(红色)、着丝粒(蓝色)和MLH1位点(绿色),是遗传重组分析的一种强有力工具.     

Male mouse recombination maps for each autosome identified by chromosome painting

Linkage maps constructed from genetic analysis of gene order and crossover frequency provide few clues to the basis of genomewide distribution of meiotic recombination, such as chromosome structure, that influences meiotic recombination. To bridge this gap, we have generated the first cytological recombination map that identifies individual autosomes in the male mouse. We prepared meiotic chromosome (synaptonemal complex [SC]) spreads from 110 mouse spermatocytes, identified each autosome by multicolor fluorescence in situ hybridization of chromosome-specific DNA libraries, and mapped >2,000 sites of recombination along individual autosomes, using immunolocalization of MLH1, a mismatch repair protein that marks crossover sites. We show that SC length is strongly correlated with crossover frequency and distribution. Although the length of most SCs corresponds to that predicted from their mitotic chromosome length rank, several SCs are longer or shorter than expected, with corresponding increases and decreases in MLH1 frequency. Although all bivalents share certain general recombination features, such as few crossovers near the centromeres and a high rate of distal recombination, individual bivalents have unique patterns of crossover distribution along their length. In addition to SC length, other, as-yet-unidentified, factors influence crossover distribution leading to hot regions on individual chromosomes, with recombination frequencies as much as six times higher than average, as well as cold spots with no recombination. By reprobing the SC spreads with genetically mapped BACs, we demonstrate a robust strategy for integrating genetic linkage and physical contig maps with mitotic and meiotic chromosome structure.     

The pachytene chromomere map of the oocyte of the Turkish hamster (Mesocricetus brandti)

A study of the chromomere maps of the sex and twenty autosomal bivalents of Turkish hamster pachytene oocytes was carried out. The average total number of chromomeres in early/mid pachytene autosomes was 280 with 91 on the p (short arm) and 189 on the q (long arm). The submetacentric X1 chromosome had 20 chromomeres and the metacentric X2 had 27. Comparisons of the number and location of oocyte chromomeres are made with the pachytene spermatocyte chromomere maps of this species.     

Chromosomes and DNA of Mus

Using C-banded preparations of Mus dunni it is possible to study the behavior of constitutive heterochromatin in early stages of meiotic prophase. The X and the Y chromosomes, both of which contain a large amount of heterochromatin, lie apart in leptotene but move toward each other during zygotene. They then form the sex vesicle at late zygotene. In autosomes zygotene pairing appears to start from the telomeric ends. The centromere of the Y chromosome associates end-to-end with the terminal end of the long arm of the X chromosome. The autosomal heterochromatic short arms show forked morphology in certain bivalents at pachytene, suggesting probable incomplete synapsis.     

Nature and distribution of chromosomal intertwinings in Saccharomyces cerevisiae.

To elucidate yeast chromosome structure and behavior, we examined the breakage of entangled chromosomes in DNA topoisomerase II mutants by hybridization to chromosomal DNA resolved by pulsed-field gel electrophoresis. Our study reveals that large and small chromosomes differ in the nature and distribution of their intertwinings. Probes to large chromosomes (450 kb or larger) detect chromosome breakage, but probes to small chromosomes (380 kb or smaller) reveal no breakage products. Examination of chromosomes with one small arm and one large arm suggests that the two arms behave independently. The acrocentric chromosome XIV breaks only on the long arm, and its preferred region of breakage is approximately 200 kb from the centromere. When the centromere of chromosome XIV is relocated, the preferred region of breakage shifts accordingly. These results suggest that large chromosomes break because they have long arms and small chromosomes do not break because they have small arms. Indeed, a small metacentric chromosome can be made to break if it is rearranged to form a telocentric chromosome with one long arm or a ring with an "infinitely" long arm. These results suggest a model of chromosomal intertwining in which the length of the chromosome arm prevents intertwinings from passively resolving off the end of the arm during chromosome segregation.     

Quadrivalent formation in a tetraploid chicken oocyte

Synaptonemal complex analysis of an exceptional tetraploid oocyte from a diploid chicken heterozygous for the MN t (Z;1) rearrangement was performed by electron microscopy of a spread preparation. Ten separate quadrivalents (26% of the chromosomal axes) were analyzed, as well as 50 autosomal bivalents. All the axes less than 2.5 microns in length formed bivalents (38) only, while axes in the 2.5-4.2 micron range formed 5 quadrivalents and 12 bivalents. The longer, separate axes formed quadrivalents only. Partner switches in excess of one were documented. The two identical W chromosomes paired only at the ends of their short arms. Quadrivalent formation may require a threshold length (2.5 microns), at least in this species. The tip of the short arm of the W chromosome may be a pairing initiation point, and it corresponds to the region associated with a localized recombination nodule previously described in diploid oocytes.     

Heterochromatin, synaptonemal complex, and NOR activity in the somatic and germ cells of a male domestic dog, Canis familiaris (Mammalia, Canidae)

C-banding and silver staining of the somatic and germ cells of the male domestic dog. Canis familiaris, have shown that: (1) the amount of C-banding is small compared to most other mammalian species, (2) three pairs of autosomes have nucleolus organizer regions (NORs) at the terminal ends of their long arms, whereas the Y chromosome has an NOR on the terminal end of the short arm, (3) the organization of the synaptonemal complex (SC) is similar to that of other mammalian species, (4) a distinct SC is formed between the long arm of the Y chromosome and probably the short arm of the X chromosome, and (5) the differential axes of both sex chromosomes do not demonstrate fusiform thickenings nor do they stain darkly with silver as do the XY bivalents in many other mammalian species.     

Synapsis and meiotic recombination in male Chinese muntjac (Muntiacus reevesi)

The muntjacs (Muntiacus, Cervidae) have been extensively studied in terms of chromosomal and karyotypic evolution. However, little is known about their meiotic chromosomes particularly the recombination patterns of homologous chromosomes. We used immunostained surface spreads to visualise synaptonemal complexes (SCs), recombination foci and kinetochores with antibodies against marker proteins. As in other mammals pachytene was the longest stage of meiotic prophase. 39.4% of XY bivalents lacked MLH1 foci compared to less than 0.5% of autosomes. The average number of MLH1 foci per pachytene cell in M. reevesi was 29.8. The distribution of MLH1 foci differed from other mammals. On SCs with one focus, the distribution was more even in M. reevesi than in other mammals; for SCs that have two or more MLH1 foci, usually there was a larger peak in the sub-centromere region than other regions on SC in M. reevesi. Additionally, there was a lower level of interference between foci in M. reevesi than in mouse or human. These observations may suggest that the regulation of homologous recombination in M. reevesi is slightly different from other mammals and will improve our understanding of the regulation of meiotic recombination, with respect to recombination frequency and position.     

The Entire Compound Autosomes of DROSOPHILA MELANOGASTER

Three new unusual compound chromosomes have been synthesized in Drosophila melanogaster. They consist of two homologous autosomes joined together in the new order: right arm, left arm, centromere, left arm, right arm, for each of the two major autosomes, and one in which chromosomes 2 and 3 have been combined in the order: right arm of 2, left arm of 2, centromere, left arm of 3, right arm of 3. The attachments of the autosomal arms were accomplished by obtaining chromosome breaks at or very close to the ends of the left arms of the autosomes such that no essential chromosome material has been removed; the compounds derived from them are therefore referred to as entire compounds. These large chromosomes are recovered in progeny with frequencies lower than expectation partly because of zygote mortality associated with these chromosomes, and partly because of a failure of spermiogenesis.     

东北马鹿和东北梅花鹿F_1杂种精母细胞联会复合体分析

作者以界面铺张-硝酸银染色技术,对东北马鹿和东北梅花鹿的F_1可育杂种的精母细胞联会复合体进行亚显微观察及分析。在减数分裂前期,杂种鹿精母细胞中形成31条完整的常染色体联会复合体、一个端着丝粒染色体/中着丝粒染色体的三价体和XY双价体。这进一步证明,两种亲本鹿的染色体具有高度的同源性,其差别仅在于一个罗伯逊易位。三价体的顺式构型可能和杂种鹿的可育性有关。     

The karyotype of the golden monkey (Rhinopithecus r. roxellanae)

In this paper, the karyotype and G-banding pattern of the chromosomes of cultured peripheral blood lymphocytes in R. r. roxellanae were investigated. The chromosome number of this species is 44 in both sexes. In R. r. roxellanae, as in other monkeys, sex is determined by specific sex chromosomes, i.e. the male is XY and the female is XX. The 21 pairs of autosomes consist of 7 pairs of metacentric chromoomes, 13 pairs of submetacentric chromosomes and one acrocentric pair. Chromosome measurements were made from highly enlarged photographic prints. They included the relative length, arm ratio and centromere index of each chromosome. Both chromosomal and chromatid aberrations were observed. They were 0·67 and 2%, respectively. Finally, G-banding pattern analysis of chromosomes of R. r. roxellanae were carried out. The results show that each homologous pair has its own special banding pattern, so that each of them is easily recognizable. Idiograms of chromosome complements with the Giemsa banding pattern are constructed.     

Human male recombination maps for individual chromosomes

Meiotic recombination is essential for the segregation of chromosomes and the formation of normal haploid gametes, yet we know very little about the meiotic process in humans. We present the first (to our knowledge) recombination maps for every autosome in the human male obtained by new immunofluorescence techniques followed by centromere-specific multicolor fluorescence in situ hybridization in human spermatocytes. The mean frequency of autosomal recombination foci was 49.8+/-4.3, corresponding to a genetic length of 2,490 cM. All autosomal bivalents had at least one recombination focus. In contrast, the XY bivalent had a recombination focus in 73% of nuclei, suggesting that a relatively large proportion of spermatocytes may be at risk for nondisjunction of the XY bivalent or elimination by meiotic arrest. There was a very strong correlation between mean length of the synaptonemal complex (SC) and the number of recombination foci per SC. Each bivalent presented a distinct distribution of recombination foci, but in general, foci were near the distal parts of the chromosome, with repression of foci near the centromere. The position of recombination foci demonstrated positive interference, but, in rare instances, foci were very close to one another.     

Discontinuities and unsynapsed regions in meiotic chromosomes have a trans effect on meiotic recombination of some chromosomes in human males

During meiosis, homologous chromosome pairing and synapsis are essential for subsequent meiotic recombination (crossing-over). Discontinuous regions (gaps) and unsynapsed regions (splits) were most frequently observed in the heterochromatic regions of bivalent synaptonemal complex (SC) 9, and we have previously demonstrated that gaps and splits significantly altered the distribution of MLH1 recombination foci on SC 9. Here, immunofluorescence techniques (using antibodies against SC proteins and the crossover-associated MLH1 protein) were combined with a centromere-specific fluorescence in situ hybridization technique that allows identification of every individual chromosome. The effect of gaps/splits on meiotic recombination patterns in autosomes other than chromosome 9 during the pachytene stage of meiotic prophase was then examined in 6,026 bivalents from 262 pachytene cells from three human males. In 64 analyzed cells with a gapped SC 9, the frequency of MLH1 foci in SCs 5 and 10 and in SC arms 10q, 11p and 16q was decreased compared to 168 analyzed cells with a normally-synapsed SC 9 (controls). In 24 analyzed cells with splits in SC 9, there was a significant reduction in MLH1 focus frequency for SC 5q and the whole SC5 bivalent. The positioning of MLH1 foci on other SCs in cells with gapped/split SC 9 was not altered. These studies suggest that gaps and splits not only have a cis effect, but may also have a trans effect on meiotic recombination in humans.     

Synthesis of an attached autosome,C(3)RM,inDrosophila pseudoobscura

Drosophila pseudoobscura has three acrocentric autosomes. In the experiments reported, homologous arms of the third chromosome were attached to the same centromere. This is a reversed metacentric compound third chromosome, denoted by C(3)RM. This compound chromosome is relatively fertile in within-strain crosses (ca. 50% egg hatch) but sterile when outcrossed to a normal karyotype. When constructing translocations for this experiment, the behavior of the Y-autosome translocations suggested that this species can tolerate more Y chromosome deficiency while retaining fertility than canDrosophila melanogaster. Finally, there were no Robertsonian exchanges observed among the 96 autosome-autosome translocations analyzed cytologically.