Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Chromosome Structures”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 973 records · Page 54Linked to original sources
PubMed1975

The rate of sister chromatid exchanges parallel to spontaneous chromosome breakage in Fanconi's anemia and to trenimon-induced aberrations in human lymphocytes and fibroblasts.

The incidence of structural chromosome aberrations and the rate of sister chromatid exchanges (SCE) was investigated in lymphocyte cultures from a patient with typical Fanconi's anemia and his parents. The rate of SCEs was found to be normal. In experiments with the alkylating agent Trenimon the SCE rates proved to be a sensitive indicator for the induction of structural aberrations: in presence of an induced aberration rate half as high as the spontaneous rate in the Fanconi's anemia case, the rate of SCEs was found to be quintupled. Dose-effect relationships for the induction of SCE rates by Trenimon were studied over a wide dose range in lymphocyte and fibroblast cultures. The results reflect the same difference in sensitivity earlier observed in the induction of structural chromosome aberrations, fibroblasts being far more sensitive.

Anemia, Aplastic↗
PubMed2003

Chromosomes of the budding yeast Saccharomyces cerevisiae.

The mitotic chromosomes of the baker's yeast, Saccharomyces cerevisiae, cannot be visualized by standard cytological methods. Only the study of meiotic bivalents and the synaptonemal complex and the visualization of chromosome-sized DNA molecules on pulsed-field gels have provided some insight into chromosome structure and behavior. More recently, advanced techniques such as in situ hybridization, the illumination of chromosomal loci by GFP-tagged DNA-binding proteins, and immunostaining of chromosomal proteins have promoted our knowledge about yeast chromosomes. These novel cytological approaches in combination with the yeast's advanced biochemistry and genetics have produced a great wealth of information on the interplay between molecular and cytological processes and have strengthened the role of yeast as a leading cell biological model organism. Recent cytological studies have revealed much about the chromosomal organization in interphase nuclei and have contributed significantly to our current understanding of chromosome condensation, sister chromatid cohesion, and centromere orientation in mitosis. Moreover, important details about the biochemistry and ultrastructure of meiotic pairing and recombination have been revealed by combined cytological and molecular approaches. This article covers several aspects of yeast chromosome structure, including their organization within interphase nuclei and their behavior during mitosis and meiosis.

Centromere↗
PubMedDate not supplied

[Multiplication of chromosomes and primary leucocyte number in childhood ALL and hyperdiploid karyotype].

In the blast cells of children with acute lymphoblastic leukemia (ALL) more than 50 chromosomes can be observed in a quarter of cases. As a rule these children have a good prognosis. However, some of these patients develop a relapse of their basic disease. There is only poor information about the significance of distinct additional chromosomes for the prognosis. The white blood cell count (WBC) at the time of diagnosis is a further very important prognostic factor in childhood ALL. Therefore we compared the relation between trisomy of distinct chromosomes and the initial white blood cell count of 41 children with common ALL and hyperdiploid karyotype. The modal chromosome number ranged from 50 to 60 chromosomes. Most frequently, the chromosomes X, 4, 6, 8, 10, 17, 18 and 21 were multiplied. Additionally, in 25 of the 41 cases structural chromosome aberrations were observed. The average WBC was estimated as 9.6 Gpt/l with a range from 1.8 to 41.5 Gpt/l. The initial WBC was slightly increased in patients with the additional chromosome X, 6, 11, 12 or 19 and distinctly decreased in children with the additional chromosome 8 or 9 in their hyperdiploid blast cells. No patient with an additional Chromosome 9 showed a WBC higher than 10 Gpt/l and only 2 out of the 12 children with an additional chromosome 8 revealed an initial WBC higher than 10 Gpt/l. Additional structural chromosome aberrations were without influence on the WBC.

Adolescent↗
PubMed2000

Cytogenetic effect of the anticancer drug epirubicin on Chinese hamster cell line in vitro.

The present study demonstrated the cytogenetic effect of the anticancer drug epirubicin on cultures of Chinese hamster cell line in vitro. The cultures were exposed to the drug for 24 h at three final concentrations; 10, 20 and 40 microg/ml. All treatments were carried out in the absence of any exogenous metabolic activation system. The different types of structural chromosomal aberrations, including gaps, breaks, deletions and fragments were increased in epirubicin-treated cultures. This increase was dose dependent where there was a positive correlation between increased drug concentration and induction of structural chromosomal aberrations. Also, the numerical chromosomal aberrations, including hypodiploidy and hyperdiploidy, were increased significantly in epirubicin-treated cultures. Like structural aberrations, the increase of numerical chromosomal aberrations was also dose-dependent. The frequency of sister chromatid exchanges in cultures treated with epirubicin increased significantly and this increase was dose-dependent. On the other hand, the epirubicin significantly decreased the mitotic index in treated cultures of Chinese hamster cell line.

Animals↗
PubMed1996

[Induction of hyperdiploidy and chromosome breaks in LIM1215 cells expressing the exogenous mutant p53].

The effect of modifications of p53 expression on the incidence of numerical and structural chromosome aberrations was studied. Infection of LIM1215 cells containing two alleles of the wild-type p53 gene (P53wt) with the recombinant viruses that expressed mutant cDNAs coding for human p53 (His273, Trp248, and His175) resulted in appearance of hyperdiploid cells in populations and an increased proportion of metaphases with chromosome breakage. Expression of the exogenous p53wt or vectors HSG/neo and pPS/neo, which did not contain the p53 cDNA, did not induce numerical or structural chromosome aberrations. Treatment of cells with caffeine decreased the p53wt content and increased the proportion of metaphases with chromosome breaks; however, it did not induce hyperdiploidy in the majority of cell lines. Only in the subline that expressed the exogenous p53Trp248 did caffeine treatment increase the proportion of hyperdiploid variants, which was correlated with the hyperexpression of the product of the mutant allele. The increase in the frequency of chromosome breaks probably resulted from p53wt inactivation, whereas changes in chromosome number might be induced by some additional activities of p53 determined by mutations. Possible mechanisms for inducing heteroploidy by mutant p53 variants, including the role of endoreduplication in inducing hyper- and polyploidy, are discussed.

Cell Line↗
PubMed1997

Large chromosomal inversions occur in Pseudomonas aeruginosa clone C strains isolated from cystic fibrosis patients.

An analysis of the chromosomal structure of 21 Pseudomonas aeruginosa clone C genotypes of various origins was carried out. The circular chromosomes showed various insertions and deletions which did not alter the gene order in 6 environmental and one ear isolate in comparison with strain PAO and strain C. However, the chromosome structure differed by at least one large inversion in 50% of the genotypes (7/14) isolated from cystic fibrosis patients. Recombination endpoints were scattered throughout the chromosome. All but one inversion included the terminus of replication which was displaced by the recombination events. The rearrangements shifted the positions of the rrn operons with respect to the origin of replication, but the transcription of the rrn operons remained in the same direction as replication. The exclusive detection of inversions in isolates from cystic fibrosis lungs, which represent an atypical habitat for P. aeruginosa, supports the theory that peculiar features of this new ecological niche may select, cause or tolerate genomic changes.

Chromosome Inversion↗
PubMed1981

The fragile site at 16q22, distamycin A, and the normal pachytene structure of chromosome 16: some possible interrelationships.

It is possible to interpret the fragile site at 16q22 as an exaggerated expression of normal structure observed at pachytene, and to interpret the potential for such expression as a heritable trait. Exposure of cells from affected individuals to distamycin A in vitro may function to facilitate realization of this potential where the trait is not expressed spontaneously.

Cells, Cultured↗
PubMed2005

Structure and chromosomal DNA binding of the SWIRM domain.

The evolutionarily conserved Swi3p, Rsc8p and Moira (SWIRM) domain is found in many chromosomal proteins involved in chromatin modifications or remodeling. Here we report the three-dimensional solution structure of the SWIRM domain from the human transcriptional adaptor ADA2alpha. The structure reveals a five-helix bundle consisting of two helix-turn-helix motifs connected by a central long helix, reminiscent of the histone fold. Using structural and biochemical analyses, we showed that the SWIRM domains of human ADA2alpha and SMARC2 bind to double-stranded and nucleosomal DNA, and we identified amino acid residues required for this function. We demonstrated that the ADA2alpha SWIRM domain is colocalized with lysine-acetylated histone H3 in the cell nucleus and that it potentiates the ACF remodeling activity by enhancing accessibility of nucleosomal linker DNA bound to histone H1. These data suggest a functional role of the SWIRM domain in chromatin remodeling.

Adaptor Proteins, Signal Transducing↗
PubMed2005

Cohesion proteins are present in centromere protein bodies associated with avian lampbrush chromosomes.

Proteins of sister chromatid cohesion are important for maintenance of meiotic chromosome structure and retention of homologous chromosomes in bivalents during diplotene. Localization of the cohesion proteins within nuclei of growing oocytes merits special attention, particularly in avian oocytes, in which diplotene chromosomes assume the form of lampbrush chromosomes (LBCs). We performed indirect immunostaining using antibodies against cohesins SMC1alpha, SMC1beta, SMC3, Rad21, and the SA/STAG family on chaffinch, pigeon and duck LBCs spreads, and frozen ovary sections. On LBCs spreads, antibodies to the majority of cohesins showed punctate staining on chromosome axes. LBC lateral loops, where sister chromatids are separated, did not show cohesin components. The spherical entities attached to the LBCs centromeres in avian germinal vesicles, the so-called protein bodies (PBs), were enriched in SMC1alpha, SMC3, Rad21, STAG1 and STAG2. The synaptonemal complex component SYCP3, which also participates in cohesion, was detected in the axes of avian lampbrush bivalents and, to a greater degree, in the PBs. In vitellogenic oocytes, cohesion proteins persist in the PBs associated with condensing bivalents when they concentrate into the karyosphere. These results indicate that cohesion proteins accumulate in centromere PBs in avian oocytes and are involved into structural maintenance of lampbrush chromosome axes.

Animals↗
PubMed2000

Gene structure and chromosomal mapping of the rat smooth muscle calponin gene.

Smooth muscle cells (SMC) express a battery of lineage-restricted genes whose encoded proteins impart the unique contractile phenotype that characterizes this muscle type. While the encoded function of many SMC-restricted genes has been extensively analyzed, less is known about their position within the genome and the regulatory factors governing their transcription. In this report, we define the gene structure, 5' promoter analysis, and chromosomal mapping of the rat smooth muscle calponin (CnnI) gene. The rat CnnI gene is comprised of seven exons spanning approximately 8 kb of genomic sequence. The intron-exon boundaries of the rat CnnI gene match precisely those in human and mouse. Primer extension and RNase protection assays indicate two major transcription start positions (tsp). Comparative sequence analysis of the 5' promoter region reveals several conserved cis regulatory elements, including a TA-rich element within 30 nt of the tsp that could be a recognition site for TATA-binding protein and two CCAAT boxes. Transient and stable transfection studies support the hypothesis that distal regulatory elements confer SMC-restricted expression of CnnI. Finally, using an F2 intercross, we have mapped the rat CnnI gene to the telomeric end of Chromosome (Chr) 8. These studies provide additional information relating to the control of CnnI gene expression and provide a platform to begin assessing the potential linkage of CnnI to spontaneous and experimental disease phenotypes in rats.

Animals↗
PubMed2006

DNA structures at chromosomal translocation sites.

It has been unclear why certain defined DNA regions are consistently sites of chromosomal translocations. Some of these are simply sequences of recognition by endogenous recombination enzymes, but most are not. Recent progress indicates that some of the most common fragile sites in human neoplasm assume non-B DNA structures, namely deviations from the Watson-Crick helix. Because of the single strandedness within these non-B structures, they are vulnerable to structure-specific nucleases. Here we summarize these findings and integrate them with other recent data for non-B structures at sites of consistent constitutional chromosomal translocations.

Chromosome Fragility↗
PubMed1983

Low angle x-ray diffraction studies of chromatin structure in vivo and in isolated nuclei and metaphase chromosomes.

Diffraction of x-rays from living cells, isolated nuclei, and metaphase chromosomes gives rise to several major low angle reflections characteristic of a highly conserved pattern of nucleosome packing within the chromatin fibers. We answer three questions about the x-ray data: Which reflections are characteristic of chromosomes in vivo? How can these reflections be preserved in vitro? What chromosome structures give rise to the reflections? Our consistent observation of diffraction peaks at 11.0, 6.0, 3.8, 2.7 and 2.1 nm from a variety of living cells, isolated nuclei, and metaphase chromosomes establishes these periodicities as characteristic of eukaryotic chromosomes in vivo. In addition, a 30-40- nm peak is observed from all somatic cells that have substantial amounts of condensed chromatin, and a weak 18-nm reflection is observed from nucleated erythrocytes. These observations provide a standard for judging the structural integrity of isolated nuclei, chromosomes, and chromatin, and thus resolve long standing controversy about the "tru" nature of chromosome diffraction. All of the reflection seen in vivo can be preserved in vitro provided that the proper ionic conditions are maintained. Our results show clearly that the 30-40-nm maximum is a packing reflection. The packing we observe in vivo is directly correlated to the side-by-side arrangement of 20- 30-nm fibers observed in thin sections of fixed and dehydrated cells and isolated chromosomes. This confirms that such packing is present in living cells and is not merely an artifact of electron microscopy. As expected, the packing reflection is shifted to longer spacings when the fibers are spread apart by reducing the concentration of divalent cations in vitro. Because the 18-, 11.0-, 6.0-, 3.8-, 2.7-, and 2.1-nm reflections are not affected by the decondensation caused by removal of divalent cations, these periodicities must reflect the internal structure of the chromaticn fibers.

Animals↗
PubMedDate not supplied

Stable karyotypes in epithelial cancer cell lines despite high rates of ongoing structural and numerical chromosomal instability.

Most human tumors and tumor cell lines exhibit numerical and structural chromosomal abnormalities. The goal of this study was to determine the ongoing rates of structural and numerical instability in selected cancer cell lines and to investigate the consequences of these rates to karyotypic progression. We studied two colorectal (HCT-116 and HT-29) and two ovarian (SKOV-3 and OVCAR-8) cancer cell lines and their single cell subclones. We found that the signature karyotypes of all four cell lines were distinct and each aberrant. Whereas high rates of ongoing structural and/ or numerical chromosomal instability could be demonstrated in all cell lines, there was a relative stability of the consensus karyotype over many generations. No new clonal structural chromosomal reconfigurations emerged and the few numerical changes of karyotypes were restricted to abnormal chromosomes. This implies a kind of genomic optimization under the conditions of cell culture and suggests a link between genomic stabilization and cell propagation. We have been able to support this possibility by computer modeling. We did not observe a profound difference in the rates of numerical or structural instability in the cell lines with a replication error phenotype (RER+) versus the other cell lines.

Chromosome Aberrations↗
PubMed1988

The one-cell mouse embryo: cell cycle-dependent radiosensitivity and development of chromosomal anomalies in postradiation cell cycles.

One-cell mouse embryos were irradiated with X-rays at different cell cycle stages. Examination of structural chromosomal anomalies and of micronucleus formation in postradiation mitoses and interphases demonstrated cell cycle-dependent radiosensitivities in the order: late G2 phase greater than G1 phase greater than S phase greater than early G2 phase greater than stage of decondensing nuclei. Comparison of the quality and quantity of chromosomal aberrations from the first to the third mitosis led to the conclusion that new chromosomal anomalies were formed in the course of postirradiation cell cycles. This hypothesis was supported by an increasing number of micronuclei from 24 to 48 h post-conception. In addition to structural chromosomal aberrations, radiation-induced chromosome loss was observed with a frequency that was obviously independent of the exposed cell cycle phase. Loss of acentric chromosome fragments and of single chromosomes contributed to the micronucleus formation.

Animals↗
PubMed2003

[Analysis of sperm chromosomes in infertile males with teratozoospermia].

OBJECTIVES: The aim of the study was to examine sperm chromosomes from infertile males with teratozoospermia. DESIGN: Basic research study MATERIALS AND METHODS: Spermatozoa were obtained from infertile males with teratozoospermia. Intracytoplasmic sperm injection was used to inject human spermatozoa into mouse oocytes in order to examine sperm chromosomes. RESULTS: Chromosomes of spermatozoa obtained from 6 infertile teratozoospermic and 1 fertile normozoospermic males were investigated. The mean frequency of structural chromosome aberrations in amorphous, motile spermatozoa was similar to that of morphologically normal sperm (9 vs. 7.7%). The structural aberrations found in amorphous, immotile spermatozoa reached 93% and revealed severity was significant. CONCLUSIONS: Teratozoospermia per se did not increase the frequency of structural chromosome aberrations in sperm. Severe chromosomal damage was revealed when immotile spermatozoa were injected into oocytes by ICSI.

Adult↗
PubMed1976

[Cystamine and the chromosome vesting phenomenon].

The effect of radioprotector cystamine on structural chromosome mutations induced in Crepis capillaris cells by gamma-rays 137Cs is studied. Cystamine at the concentration of 0,1% causes a two-fold decrease in the frequency of structural mutations. In the "vesting" phenomenon of ring chromosomes, under the same experimental conditions, it also leads to a two-fold decrease in the frequency of exchanges, in relation to the frequency of fragment units in the initial stage, by repair of normal chromosome structure. Cystamine provides protection in structural mutagenesis at the moment of realization of primary mutagenic changes into mutations due to enzyme ligazing chromosome fragments.

Cesium Radioisotopes↗