An X-autosome fusion chromosome of Caenorhabditis elegans

Summary The translocation mnT12(IV;X) is a fusion of holocentric chromosomes IV and X, the breakpoints occurring near the left end of IV and the right end of X. Animals homozygous for mnT12 are viable and fertile; they contain five pairs of chromosomes rather than the normal set of six pairs. The mnT12 chromosome is larger than all wild-type chromosomes and thus identifies linkage groups IV and X cytologically. Hermaphrodites heterozygous for mnT12 show high frequency meiotic nondisjunction both between mnT12 and the X chromosome, which results in a high incidence of male self progeny (27% compared to the wild-type incidence of 0.2%), and between mnT12 and chromosome IV, which results in a high incidence of self progeny essentially trisomic for chromosome IV (karyotype IV/mnT12/mnT12). The viability of chromosome IV trisomics has been confirmed by constructing animals trisomic for only normal copies of chromosome IV; these animals are morphologically wild type. Meiotic chromosome disjunction in mnT12 homozygotes appears to be normal, although the frequency of recombination between markers that are normally X-linked is significantly reduced. Males of genotype IV/mnT12/0 are fertile. They can be thought of as having a neo-X(mnT12) neo-Y(normal IV) karyotype since it is possible to maintain a male-hermaphrodite stock of C. elegans consisting of such males and hermaphrodites carrying two neo-X chromosomes and no neo-Y; the organism is thus converted from an XO:XX type of sex determination to an XX:XX system.     

The allotetraploidization of maize

Summary Allotetraploidization is the creation of artifical allotetraploids from a normally diploid species. The possible value of allotetraploid maize has been discussed in Section I of this series. Allotetraploidization of maize can be achieved by restructuring a maize genome so that its chromosomes will not pair with those of the standard maize genome. This restructuring can be done by concentrating differential pairing affinity (DPA) factors into a single line by a recurrent selection type of breeding program. Because the divergence of the maize genome is a gradual process, it is necessary to devise a model for chromosome pairing and gene segregation in segmental allotetraploids. This has been done by considering pairing in each arm separately and then combining paired arms to form pairing configurations for whole chromosomes. The chromosome disjunction patterns are hypothesized and genetic ratios in relation to different levels of DPA are suggested.Contribution from the Science and Education Administration, U.S. Department of Agriculture, and the Agronomy Department, University of Missouri, Columbia, Missouri, Agricultural Experiment Station Journal Series No. 8090     

人多肽链延伸因子1α四个反转录假基因的鉴别与定位

人多肽链延伸因子1α基因EEF1A是一个在蛋白质合成过程中起重要作用的看家基因。通过对已有GenBank、GDB等数据库的综合分析,鉴别了4个人类多肽链延伸因子1α基因的反转录假基因,并分别将其精细定位于4q2 5、7p15-21、9q34和19q13上。 Abstract:The gene for human polypeptide chain elongation factor-1α(EEF1A)is a house-keeping gene which plays an important role in the process of protein synthesis.By means of comprehensive analysis in the database of Genbank,GDB and ect,we identify 4 retropseudogenes of EEF1A and finely localized to 4q25,7p15-21,9q34 and 19q13,respectively.     

Tests for parental imprinting in the nematode Caenorhabditis elegans

Summary The mutation him-6(e1423) leads to generalized chromosomal nondisjunction during meiosis in oogenesis and spermatogenesis of C. elegans. As a result, gametes nullisomic or disomic for each of the six chromosomes occur at appreciable frequency. Crosses utilizing marked him-6 strains were used to generate and identify exceptional euploid progeny which had received both homologues of a marked autosome either from the male parent or from the female parent. Examples of all ten possible exceptions were identified and found to be viable and fertile. These results (together with previous data for the X chromosome) indicate that major chromosomal imprinting effects do not occur during gametogenesis in this organism.     

Effect of genome-plastome interaction on meiosis and pollen development in Oenothera species and hybrids

 Oenothera villaricae Dietrich and Oe. picensis Dietrich, complete translocation heterozygotes, are fully interfertile, giving rise to six discrete classes of true-breeding hybrids from a reciprocal cross. Associated with each parent and hybrid is a characteristic abortive non-staining pollen fraction easily distinguished from fully developed pollen under the light microscope. Pollen abortion has been associated with translocation rings in other angiosperm species, and may characterize such systems. The abortive pollen fraction is significantly different between reciprocal Oenothera hybrids, however (P<0.001), indicative of partial cytoplasmic control. Pollen abortion is most severe in the F₁ hybrid generation, and ameliorates with successive generations of hybrid self-fertilization. Three-way analysis of variance shows significant effects on pollen stainability (a measure of the non-abortive fraction) for nucleus, cytoplasm and selfed hybrid generation, individually or in combinations. This result suggests a combined nucleocytoplasmic basis for the pollen abortion. Correlated with the observation of increased pollen abortion in Oenothera hybrids are meiotic findings of broken chromosome rings (chains, univalents), asymmetric anaphase chromosome distributions and trinucleate tetrads. To test the hypothesis that such anomalous meiotic events play a role in the mechanism of pollen abortion, meiotic disjunction frequency was determined for each parent, F₁ and F₉ selfed hybrid accessions. Three-way analysis of variance shows levels of significance comparable to those noted for pollen stainability (P<0.001) for effects of nucleus, cytoplasm and selfed hybrid generation on disjunction frequency. A high degree of correlation (r ²=0.984) is noted between disjunction frequency and pollen stainability. We conclude that the abortive pollen grains are indeed the products of nondisjunctional meiotic events, which themselves are consequences of hybrid nucleocytoplasmic incompatibility. Received: 28 May 1997 / Revision accepted: 23 July 1997     

Chromosome malsegregation and embryonic lethality induced by treatment of normally ovulated mouse oocytes with nocodazole

The mouse egg is ovulated with its nucleus arrested at the metaphase-II stage of meiosis. Sperm entry triggers the completion of the second meiotic division. It has been speculated that damage to the meiotic spindle of normally ovulated eggs at around the time of sperm entry could result in chromosome malsegregation and the death of conceptuses with numerical chromosome anomalies. This hypothesis was tested using nocodazole, a microtubule inhibitor. Nocodazole was administered either to maturing preovulatory oocytes or to normally ovulated eggs at one of the following stages: (1) the time of sperm entry, (2) early pronuclear stage, (3) pronuclear DNA synthesis, (4) prior to first cleavage division, (5) early 2-cell stage, or (6) prior to the second cleavage division. Little or no effect was observed for treatment times other than the time of sperm entry, when the egg is being activated to complete the second meiotic division. Remarkably high frequencies of embryonic lethality, expressed at around the time of implantation, were induced at this stage. Cytogenetic analysis of first cleavage metaphases of zygotes treated at the time of sperm entry revealed a high incidence of varied numerical chromosome anomalies, with changes in ploidy being predominant.     

Malsegregation of chromosomes is not a major source of somatic mosaicism in Drosophila melanogaster

Two genotypes were constructed to determine whether some of the mosaic spots, on which the SMART (somatic mutation and recombination test) procedures are based may arise through malsegregation of the chromosomes. Both arms of the metacentric third chromosomes were labelled with marker mutations, and in this way one- and two-arm events (the former representing rearrangements or point mutations, the latter representing malsegregation) could be recorded separately. Although several hundred clones were identified following exposure of larvae to X-rays, colchicine or vinchicine or vincristine (all known inducers of malsegregation), none arose as a consequence of two-arm events. This suggests that malsegregation of the chromosomes plays little, if any role in the formation of mosaic spots. Instead, the clones develop due to mitotic recombinations, deletions or point mutations.     

用GT重复多态性诊断21三体患者中超数21号染色体减数分裂起源的研究

通过PCR扩增、PAG电泳和硝酸银显色,首次分析了人类21号染色体长臂上两个紧靠着丝粒的GT重复序列（D21S215和D21S120）在中国人中的多态性,并用于光天愚型患者中超数21号染色体减数分裂起源的诊断。D21S215和D21S120在中国人中分别有6和5个等位片段,杂合率观测值均为0.68,多态信息含量分别为0.67和0.65。用这两标记,在17例已知超数21号染色体双亲来源的患者中,检测出16例的减数分裂起源;其中来自母亲减数分裂Ⅰ和Ⅱ的分别有7和4例,属父亲减数分裂Ⅰ和Ⅱ不分离的分别为2和3例。对研究超数21号染色体起源的生物学意义等进行了讨论。     

Molecular genetics of growth and development in Populus. I. Triploidy in hybrid poplars

Summary While constructing a genetic linkage map of a hybrid poplar genome (Populus trichocarpa x P. deltoides), we identified several restriction fragment length polymorphismus (RFLPs) for which the parental trees are heterozygous. Although 8 of the 11 F₁ hybrid offspring inherited, as expected, single RFLP alleles from each parent, 3 F₁ trees in the mapping pedigree inherited both maternal alleles along with a single paternal allele at some loci. Aneuploidy or polyploidy in these 3 F₁ trees due to partial or complete nondisj unction during female gametogenesis is the simplest explanation for this finding. Of the 3 f₁ offspring with supernumerary RFLP alleles 2 have triploid nuclear DNA contents as measured by fluorescence flow cytometry; the 3rd F₁ with supernumerary alleles has a sub-triploid nuclear DNA content and is probably aneuploid. Among the tri/aneuploid hybrids, leaf quantitative traits either are skewed toward those values characteristic of the P. trichocarpa female parent (adaxial stomate density, petiole length: blade length ratio; abaxial color) or show transgressive variation (epidermal cell size). Abaxial leaf color was used to screen a large population of P. trichocarpa x P. deltoides hybrids for further evidence of tri/aneuploidy. In each case where a white abaxial leaf surface was observed and the nuclear DNA content measured, the hybrid proved to be tri/aneuploid. All sexually mature female triploids examined were sterile, although the inflorescences completed their development in the absence of embryo formation. The (probably) aneuploid F₁ hybrid is a fertile female. Of 15 female P. trichocarpa parents used in crosses to P. deltoides, 10 produced one or more tri/aneuploid hybrid offspring. In an intraspecific cross using a P. trichocarpa female that had produced triploid hybrids with five different P. deltoides males, no tri/aneuploid offpsring were found.     

Statistical Analysis of Uniparental Disomy Data Using Hidden Markov Models

Genetic studies of uniparental disomy (UPD) employing many markers have helped geneticists to gain a better understanding of the molecular mechanisms underlying nondisjunction. However, most existing methods cannot simultaneously analyze all genetic markers and consistently incorporate crossover interference; they thus fail to make the most use of genetic information in the data. In the present article, we describe a hidden Markov model for multilocus uniparental disomy data. This method is based on the chi-square model for the crossover process and can simultaneously incorporate all marker information including untyped and uninformative markers. We then apply this novel method to analyze a set of UPD15 data.