Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “CHROMOSOMES”

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 703 records · Page 39Linked to original sources
PubMed1992

Organization, polymorphism, and molecular cytogenetics of chromosome-specific alpha-satellite DNA from the centromere of chromosome 2.

The general usefulness of alpha-satellite DNA probes for the molecular, genetic, and cytogenetic analysis of the human genome is enhanced by their being chromosome specific. Here, we describe the isolation and characterization of an alpha-satellite subset specific for human chromosome 2. Three clones, p2-7, p2-8, and p2-11, obtained from an EcoRI-digested lambda phage library from flow-sorted chromosome 2, are specific for the centromere of chromosome 2 by somatic cell hybrid mapping and chromosomal in situ hybridization. Nucleotide sequence analysis identifies the chromosome 2-specific alpha-satellite subset D2Z1 as a member of the suprachromosomal subfamily II, which is based on a characteristic two-monomer repeat. The D2Z1 subset is further organized as a series of diverged 680-bp tetramers, revealed after digestion of genomic DNA with HaeIII, HindIII, HinfI, StuI, and XbaI. Using pulsed-field gel electrophoresis (PFGE), probes p2-7, p2-8, and p2-11 detect polymorphic restriction patterns within the alpha-satellite array. Among 15 different chromosomes 2 (in two two-generation families and one three-generation family), the length of the D2Z1 alpha-satellite array varied between 1050 and 2900 kb (mean = 1850 kb, SD = 550 kb). The inheritance of the chromosome 2 alpha-satellite arrays and their associated polymorphisms was strictly Mendelian.

Aneuploidy↗
PubMed1989

A fractal model of chromosomes and chromosomal DNA replication.

With the aim of clarifying topological problems involved in the process of chromosomal DNA replication, a fractal model of chromosomes was built based on the assumption that a part of a chromosome, e.g. a radial loop, is similar in shape to a whole chromosome and each radial loop represents structures in the lower-order organization (an assumption of self-similarity). Several other assumptions used include (i) one continuous DNA fiber makes a whole chromosome (a unineme hypothesis), (ii) in situ DNA exists in the form of a double duplex or a tetraplex which is made of two duplex DNAs, although a duplex DNA may appear transiently in S-phase (multi-strandedness hypothesis) and (iii) torsional stress on a DNA fiber causes the fiber to supercoil and thus stabilizes chromosome structure (torque-based stabilization). This model allowed to calculate of a fractal dimension of a representative metaphase chromosome (e.g. d = 2.34), to predict the mode of replication of double duplex and to furnish a topological basis for the decondensation unit hypothesis. It must also be admitted that all the arguments in this report except for the possible existence of split telomeres hold true without assuming a tetraplex organization of chromosomes. Implications of this model was discussed and the importance of the fractal dimension as a measure of chromatin condensation stressed.

Animals↗
PubMed2001

Meiotic chromosomes and stages of sex chromosome evolution in fish: zebrafish, platyfish and guppy.

We describe SC complements and results from comparative genomic hybridization (CGH) on mitotic and meiotic chromosomes of the zebrafish Danio rerio, the platyfish Xiphophorus maculatus and the guppy Poecilia reticulata. The three fish species represent basic steps of sex chromosome differentiation: (1) the zebrafish with an all-autosome karyotype; (2) the platyfish with genetically defined sex chromosomes but no differentiation between X and Y visible in the SC or with CGH in meiotic and mitotic chromosomes; (3) the guppy with genetically and cytogenetically differentiated sex chromosomes. The acrocentric Y chromosomes of the guppy consists of a proximal homologous and a distal differential segment. The proximal segment pairs in early pachytene with the respective X chromosome segment. The differential segment is unpaired in early pachytene but synapses later in an 'adjustment' or 'equalization' process. The segment includes a postulated sex determining region and a conspicuous variable heterochromatic region whose structure depends on the particular Y chromosome line. CGH differentiates a large block of predominantly male-specific repetitive DNA and a block of common repetitive DNA in that region.

Animals↗
PubMed1978

Epstein-Barr virus and human chromosomes: close association of the resident viral genome and the expression of the virus-determined nuclear antigen (EBNA) with the presence of chromosome 14 in human-mouse hybrid cells.

Fourteen hybrid clones derived from the fused cultures of human lymphoblastoid FV5 cells and 5-bromodeoxyuridine-resistant mouse fibroblastic MCB2 cells grown in hypoxanthine/aminopterin/thymidine selective medium were examined for the presence of Epstein-Barr virus (EBV) DNA, the expression of the virus-determined nuclear antigen (EBNA), and the presence of human chromosomes, in the course of serial passage in vitro. Among the hybrid clones tested, 3 were positive for EBV DNA and EBNA, whereas the remaining 11 were totally negative. The chromosome investigations showed that human chromosome 14 was consistently involved in all three EBV genome-positive and EBNA-positive hybrid clones, but not in any negative clones. In 10 subclones isolated from 1 of the 3 positive clones, all of which contained only chromosome 14 of the human chromosomes, a concordant segregation of EBNA, EBA DNA, and chromosome 14 was evident. These findings suggest that the resident EBV genome is closely associated with chromosome 14 and the presence of this particular chromosome alone is sufficient for the maintenance and the expression of EBV genetic information in human lymphoblastoid cells.

Antigens, Viral↗
PubMed1978

Homologous genes for enolase, phosphogluconate dehydrogenase, phosphoglucomutase, and adenylate kinase are syntenic on mouse chromosome 4 and human chromosome 1p.

It is possible to generate interspecific somatic cell hybrids that preferentially segregate mouse chromosomes, thus making possible mapping of mouse genes. Therefore, comparison of the linkage relationships of homologous genes in man and mouse is now possible. Chinese hamster x mouse somatic cell hybrids segregating mouse chromosomes were tested for the expression of mouse enolase (ENO-1; EC 4.2.1.11, McKusick no. 17245), 6-phosphogluconate dehydrogenase [PGD; EC 1.1.1.44, McKusick no. 17220], phosphoglucomutase-2 (PGM-2; EC 2.7.5.1, McKusick no. 17190), and adenylate kinase-2 (AK-2; EC 2.7.4.3, McKusick no. 10302). In man, genes coding for the homologous forms of these enzymes have been assigned to the short arm of human chromosome 1. Analysis of 41 primary, independent, hybrid clones indicated that, in the mouse, ENO-1 and AK-2 are syntenic with PGD and PGM-2 and therefore can be assigned to mouse chromosome 4. In contrast, they were asyntenic with 21 other enzymes including mouse dipeptidase-1 (DIP-1, human PEP-C; EC 3.4.11.(*), McKusick no. 17000) assigned to human chromosome arm 1q and mouse chromosome 1. Karyologic analysis confirmed this assignment. These data demonstrate that a large autosomal region (21 map units in the mouse and 51 map units in the human male) has been conserved in the evolution of mouse chromosome 4 and the short arm of human chromosome 1. Identification of such conserved regions will contribute to our understanding of the evolution of the mammalian genome and could suggest gene location by homology mapping.

Adenylate Kinase↗
PubMed1987

Nonrandom chromosome arrangements in germ line nuclei of Sciara coprophila males: the basis for nonrandom chromosome segregation on the meiosis I spindle.

Meiosis I in males of the Dipteran Sciara coprophila results in the nonrandom distribution of maternally and paternally derived chromosome sets to the two division products. Based on an earlier study (Kubai, D.F. 1982. J. Cell Biol. 93:655-669), I suggested that the meiosis I spindle does not play a direct role in the nonrandom sorting of chromosomes but that, instead, haploid sets are already separated in prophase nuclei well before the onset of spindle formation. Here I report more direct evidence that this hypothesis is true; this evidence was gained from ultrastructural reconstruction analyses of the arrangement of chromosomes in germ line nuclei (prophase nuclei in spermatogonia and spermatocytes) of males heterozygous for an X-autosome chromosome translocation. Because of this translocation, the maternal and paternal chromosome sets are distinguishable, so it is possible to demonstrate that (a) the two haploid chromosome sets occupy distinct maternal and paternal nuclear compartments and that (b) nuclei are oriented so that the two haploid chromosome sets have consistent relationships to a well-defined cellular axis. The consequences of such nonrandom aspects of nuclear structure for chromosome behavior on premeiotic and meiotic spindles are discussed.

Animals↗
PubMed1997

Chromosomes with two intact axial cores are induced by G2 checkpoint override: evidence that DNA decatenation is not required to template the chromosome structure.

Here we report that DNA decatenation is not a physical requirement for the formation of mammalian chromosomes containing a two-armed chromosome scaffold. 2-aminopurine override of G2 arrest imposed by VM-26 or ICRF-193, which inhibit topoisomerase II (topo II)-dependent DNA decatenation, results in the activation of p34cdc2 kinase and entry into mitosis. After override of a VM-26-dependent checkpoint, morphologically normal compact chromosomes form with paired axial cores containing topo II and ScII. Despite its capacity to form chromosomes of normal appearance, the chromatin remains covalently complexed with topo II at continuous levels during G2 arrest with VM-26. Override of an ICRF-193 block, which inhibits topo II-dependent decatenation at an earlier step than VM-26, also generates chromosomes with two distinct, but elongated, parallel arms containing topo II and ScII. These data demonstrate that DNA decatenation is required to pass a G2 checkpoint, but not to restructure chromatin for chromosome formation. We propose that the chromosome core structure is templated during interphase, before DNA decatenation, and that condensation of the two-armed chromosome scaffold can therefore occur independently of the formation of two intact and separate DNA helices.

2-Aminopurine↗
PubMed1976

Control of chromosome behavior in amphibian oocytes. II. The effect of inhibitors of RNA and protein synthesis on the induction of chromosome condensation in transplanted brain nuclei by oocyte cytoplasm.

We studied the effects of actinomycin D, alpha-amanitin, puromycin, and cycloheximide on the cytoplasmic activity of maturing Rana pipiens oocytes that induces chromosome condensation in transplanted brain nuclei. Treatment of oocytes with each inhibitor suppressed the chromosome condensation induced by metaphase oocytes to varying degrees depending upon the dose of inhibitor, despite the fact that untreated metaphase I oocytes already possessed chromosome condensation activity (CCA). Treatment of brain nuclei before injection completely suppressed condensation at all doses used. Chromosome condensation induced by metaphase II oocyte cytoplasm, however, was insensitive to all the inhibitors, even when the brain nuclei were pretreated. Oocytes treated with alpha-amanitin throughout maturation induced chromosome condensation when tested at metaphase II. Removal of the oocyte chromosomes after the germinal vesicle (GV) broke down did not prevent the development of CCA, whereas removal of the entire GV before initiation of maturation deprived oocytes of CCA. The results suggest that metaphase I oocyte cytoplasm stimulates synthesis of brain nuclear RNAs that are translated into proteins necessary for chromosome condensation, whereas metaphase II oocytes possess all the factors for chromosome condensation. In both cases, GV nucleoplasm appears indispensable for the development of CCA, whereas immediate activity of the oocyte genome is not required.

Amanitins↗
PubMed1993

A short chromosomal region with major roles in yeast chromosome III meiotic disjunction, recombination and double strand breaks.

A multicopy plasmid was isolated from a yeast genomic library, whose presence resulted in a twofold increase in meiotic nondisjunction of chromosome III. The plasmid contains a 7.5-kb insert from the middle of the right arm of chromosome III, including the gene THR4. Using chromosomal fragments derived from chromosome III, we determined that the cloned region caused a significant, specific, cis-acting increase in chromosome III nondisjunction in the first meiotic division. The plasmid containing this segment exhibited high spontaneous meiotic integration into chromosome III (in 2.4% of the normal meiotic divisions) and a sixfold increase (15.5%) in integration in nondisjunctant meioses. Genetic analysis of the cloned region revealed that it contains a "hot spot" for meiotic recombination. In DNA of rad50S mutant cells, a strong meiosis-induced double strand break (DSB) signal was detected in this region. We discuss the possible relationships between meiosis-induced DSBs, recombination and chromosome disjunction, and propose that recombinational hot spots may be "pairing sites" for homologous chromosomes in meiosis.

Chromosomes, Fungal↗
PubMed2005

Phylogenetic relationships and the primitive X chromosome inferred from chromosomal and satellite DNA analysis in Bovidae.

The early phylogeny of the 137 species in the Bovidae family is difficult to resolve; knowledge of the evolution and relationships of the tribes would facilitate comparative mapping, understanding chromosomal evolution patterns and perhaps assist breeding and domestication strategies. We found that the study of the presence and organization of two repetitive DNA satellite sequences (the clone pOaKB9 from sheep, a member of the 1.714 satellite I family and the pBtKB5, a 1.715 satellite I clone from cattle) on the X and autosomal chromosomes by in situ hybridization to chromosomes from 15 species of seven tribes, was informative. The results support a consistent phylogeny, suggesting that the primitive form of the X chromosome is acrocentric, and has satellite I sequences at its centromere. Because of the distribution of the ancient satellite I sequence, the X chromosome from the extant Tragelaphini (e.g. oryx), rather than Caprini (sheep), line is most primitive. The Bovini (cow) and Tragelaphini tribes lack the 1.714 satellite present in the other tribes, and this satellite is evolutionarily younger than the 1.715 sequence, with absence of the 1.714 sequence being a marker for the Bovini and Tragelaphini tribes (the Bovinae subfamily). In the other tribes, three (Reduncini, Hippotragini and Aepycerotini) have both 1.714 and 1.715 satellite sequences present on both autosomes and the X chromosome. We suggest a parallel event in two lineages, leading to X chromosomes with the loss of 1.715 satellite from the Bovini, and the loss of both 1.714 and 1.715 satellites in a monophyletic Caprini and Alcelaphini lineage. The presence and X chromosome distribution of these satellite sequences allow the seven tribes to be distributed to four groups, which are consistent with current diversity estimates, and support one model to resolve points of separation of the tribes.

Animals↗
PubMed1981

Number and size of human X chromosome fragments transferred to mouse cells by chromosome-mediated gene transfer.

Labeled probes of unique-sequence human X chromosomal deoxyribonucleic acid, prepared by two different procedures, were used to measure the amount of human X chromosomal deoxyribonucleic acid in 12 mouse cell lines expressing human hypoxanthine phosphoribosyltransferase after chromosome-mediated gene transfer. The amount of X chromosomal deoxyribonucleic acid detected by this procedure ranged from undetectable levels in the three stable transformants and some unstable transformants examined to about 20% of the human X chromosome in two unstable transformants. Reassociation kinetics of the X chromosomal probe with deoxyribonucleic acid from the two unstable transformants containing 15 to 20% of the human X chromosome indicate that a single copy of these sequences is present. In one of these lines, the X chromosomal sequences exist as multiple fragments which were not concordantly segregated when the cells were selected for loss of hprt.

Animals↗
PubMed2002

Chromosome banding in Amphibia. XXIV. The B chromosomes of Gastrotheca espeletia (Anura, Hylidae).

The mitotic chromosomes of an Ecuadorian population of the marsupial frog Gastrotheca espeletia were analyzed by means of banding techniques and fluorescence in situ hybridization. This species is characterized by unusual supernumerary (B) chromosomes. The maximum number of B chromosomes is 9 and they occur in three different morphological types. Banding analyses show that the B chromosomes are completely heterochromatic, consist of AT base pair-rich repeated DNA sequences, replicate their DNA in very late S-phase of the cell cycle, and are probably derived from a centromeric or paracentromeric region of a standard (A) chromosome. Exceptionally, the B chromosomes carry 18S + 28S ribosomal RNA genes and the conserved vertebrate telomeric DNA sequence appears to be underrepresented. Flow cytometric measurements of the nuclear DNA content differentiate between individuals with different numbers of B chromosomes. Significantly more B chromosomes are present in female than in male animals.

Animals↗
PubMed1995

Construction of Chinese hamster chromosome specific DNA libraries and their use in the analysis of spontaneous chromosome rearrangements in different cell lines.

Chinese hamster (Cricetulus griseus) and a wide variety of cell lines derived from it have been extensively used for radiobiological and genotoxicity studies. In this report, we describe the development of chromosome-specific DNA libraries for Chinese hamster chromosomes 1, 2, 3, 5, 6, 7 and 8 by the linker/adaptor method. The specificity of these probes have been checked by FISH on primary embryonic fibroblast (CHE) metaphase chromosomes. The diploid number of chromosomes in different cell lines of CHO often varies from 19 to 21 and karyotyping is very difficult owing to many spontaneous rearrangements. Using Chinese hamster chromosome-specific DNA libraries, we have analysed the spontaneous chromosome rearrangements in three different Chinese hamster transformed cell lines, V79, CHO-KI and CHO-9. The results indicate that one of each of the first and fifth pair of chromosomes are involved in reciprocal translocations in both CHO-9 and CHO-K1 cells. The hybridisation patterns obtained with chromosome-specific probes 2, 3, 5, 6, 7 and 8 indicated rearrangements have occurred involving terminal and interstitial translocations in V79, CHO-KI and CHO-9 cells.

Animals↗
PubMed2005

Genomewide scan for anal atresia in swine identifies linkage and association with a chromosome region on Sus scrofa chromosome 1.

Anal atresia is a rare and severe disorder in swine occurring with an incidence of 0.1-1.0%. A whole-genome scan based on affected half-sibs was performed to identify susceptibility loci for anal atresia. The analysis included 27 families with a total of 95 animals and 65 affected piglets among them. Animals were genotyped for 126 microsatellite markers distributed across the 18 autosomal porcine chromosomes and the X chromosome, covering an estimated 2080 cM. Single-point and multipoint nonparametric linkage scores were calculated using the computer package ALLEGRO 1.0. Significant linkage results were obtained for chromosomes 1, 3, and 12. Markers on these chromosomes and additionally on chromosomes for which candidate genes have been postulated in previous studies were subjected to the transmission disequilibrium test (TDT). The test statistic exceeded the genomewide significance level for adjacent markers SW1621 (P = 7 x 10(-7)) and SW1902 (P = 3 x 10(-3)) on chromosome 1, supporting the results of the linkage analysis. A specific haplotype associated with anal atresia that could prove useful for selection against the disorder was revealed. Suggestive linkage and association were also found for markers S0081 on chromosome 9 and SW957 on chromosome 12.

Animals↗
PubMed2001

[Reverse in situ hybridization of DNA probes of anomalous chromosomes in diagnosing chromosome pathologies].

The results of analysis of congenital chromosomal pathologies and chromosomal rearrangements upon the occurrence of haematological diseases, which was involved constructing DNA libraries of abnormal chromosomes and subsequent reverse CISS hybridization have been considered. High effectiveness of this approach for analysis of chromosomal translocations, deletions of chromosomal regions, minor extra chromosomes, and large marker chromosomes with complex organization was shown. The possibility of implementation of this approach and its large-scale application in medical and genetic studies of congenital developmental pathologies and chromosomal diagnostics of haematological diseases has been discussed.

Chromosome Aberrations↗
PubMed1978

[Epstein-Barr virus and human chromosomes: Close association of the resident viral genome and the expression of the virus-determined nuclear antigen (EBNA) with the presence of chromosome 14 in human/mouse hybrid cells (author's transl)].

Fourteen hybrid clones derived from the fused cultures of human lymphoblastoid FV5 cells and 5-bromodeoxyuridine-resistant mouse fibroblastic MCB2 cells grown in HAT selective medium were examined for the presence of Epstein-Barr virus (EBV) DNA, the expression of the virus-determined nuclear antigen (EBNA), and the presence of human chromosomes, in the course of serial passage in vitro. Among the hybrid clones tested, three were positive for EBV DNA and EBNA, whereas the remaining 11 clones were totally negative. The chromosome investigations showed that human chromosome 14 was consistently involved in all three EBV genome-positive and EBNA-positive hybrid clones, but not in any negative clones. In 10 subclones isolated from one of the three positive clones, all of which contained chromosome 14 alone as human chromosomes, a concordant segregation of EBNA, EBV DNA and No. 14 chromosome was evident. These findings suggest that the resident EBV genome is closely associated with chromosome 14 and the presence of this particular chromosome alone is sufficient for the maintenance and the expression of EBV genetic information in human lymphoblastoid cells.

Animals↗
PubMed1988

Chromosome fragmentation by chromosome mediated gene transfer.

Chromosome mediated gene transfer (CMGT) can be used to construct human-mouse somatic cell hybrids containing fragments of human chromosomes. We have constructed two panels of hybrid cells by CMGT: the first panel contains fragments of the human X chromosome and the second panel contains fragments of the Y chromosome. The construction of the Y chromosome panel was facilitated by the cotransfer of chromosomes with a selectable plasmid; selection for the plasmid encoded marker enriched for cells which had incorporated chromosome fragments. This preselection was combined with antibody dependent enrichment using the monoclonal antibody 12E7, which reacts with a Y-encoded antigen. Detailed investigation of the two panels revealed extensive rearrangements of the transferred fragments and the preferential retention of sequences from the centromeric region of the donor chromosomes. These results suggest that CMGT will not be particularly useful in the construction of genetic maps, but nevertheless CMGT can be used for enriching for specific regions of the human genome in somatic cell hybrids.

Animals↗
PubMed1984

Effects of herpes simplex virus strains on human fibroblast and lymphocyte chromosomes and the localization of chromosomal aberrations.

The effects on human chromosomes of types 1, 2 and of intermediate serotype of herpes simplex virus (HSV) was compared in fibroblast and lymphocyte cultures. The karyological changes due to HSV were shown to depend on the serotype used as well as on the kind of cells examined (agent-specificity and cell-reaction specificity). Differences were noted among the strains in relation to the degree and character of the aberrations induced. Conventional Giemsa staining and the trypsin G-banding techniques were used to localize aberrations in the length of human fibroblast and lymphocyte chromosomes after HSV infection. A non-random damage of chromosomes 1 and 3 displaying the same pattern in either cell type was established. The distribution of chromosomal abnormalities was independent of the chromosome length. The topographic banding analysis of lesions induced by strains of HSV-1, HSV-2 and intermediate serotypes showed that the most frequent aberrations were localized in bands p32, p34, q21 and q32 of chromosome 1 and in the band q21 of chromosome 3. The localization of the most frequently occurring aberrations in the chromosomes belonging to other groups was also determined.

Cells, Cultured↗