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  • 1
    Electronic Resource
    Electronic Resource
    Centromeric association and non-random distribution of centromeres in human tumour cells (1989)
    Springer
    Human genetics 〈Berlin〉 81 (1989), S. 137-143 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Centromere arrangement in interphase and metaphase cells of two human tumour cell lines was analysed using anti-kinetochore antibodies as immunofluorescent probes. In GLC1 interphase nuclei, kinetochores were non-randomly positioned around the nucleolus and close to the nuclear membrane. During S and early G2 phase, necklace-like strands of kinetochores were formed in the centre of the nucleus. The duplication of sister kinetochores during the G2 phase was not synchronized. At late G2 phase, a relatively random topological distribution of centromeres was observed with short linear arrays of sister kinetochores. Carefully spread metaphase plates of MDA-MB231 cells generally exhibited a linear alignment of centromeres and large centromeric clusters. In completely pulverized MDA-MB231 cells, centromeres showed a strong tendency to associate with each other.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00293889
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  • 2
    Electronic Resource
    Electronic Resource
    The fragile site (16)(q22) (1987)
    Springer
    Human genetics 〈Berlin〉 76 (1987), S. 365-368 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary In the lymphocytes of heterozygous carriers of the rare autosomal fragile site (16)(q22) an exceptionally high frequency of sister chromatid exchanges was demonstrated at the induced fragile site by means of simultaneous berenil and BrdU treatment of the cultures. The rate of sister chromatid exchanges at q22 is also increased in the fragile chromosome 16 by treating the cells with BrdU alone. The possible reasons for the preferential occurrence of induced and spontaneous sister chromatid exchanges at fra (16)(q22) are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00272446
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  • 3
    Electronic Resource
    Electronic Resource
    Chromosome 7 short arm deletion, 7p21→pter (1986)
    Springer
    Human genetics 〈Berlin〉 74 (1986), S. 323-325 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A case report of a de novo deletion in the short arm of chromosome 7 is presented (46,XX,del(7)(p21→pter)). The five-month-old girl's major symptoms are: trigonocephalus with craniosynostosis, median bony forehead bulge, high palate, atrial septal defect, anal atresia and perineal fistula, thumb insertion far to ulnar-proximal, and a slightly retarded psychomotor development. The other cases with monosomy 7p described in the literature are reviewed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00282559
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  • 4
    Electronic Resource
    Electronic Resource
    Increased frequencies of sister chromatid exchanges at common fragile sites (1)(q42) and (19)(q13) (1989)
    Springer
    Human genetics 〈Berlin〉 83 (1989), S. 145-147 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Human lymphocyte cultures were treated with 5-azadeoxycytidine for the induction of the common fragile sites at 1q42 and 19q13 and with 5-bromodeoxyuridine for differential sister chromatid staining. A remarkably high frequency of sister chromatid exchanges was observed directly at the gaps of both fragile sites. In addition, the rate of sister chromatid exchanges occurring at the region corresponding to 1q42 with-out a concurrent visible gap was also increased. This confirms previous data on increased intrachromosomal recombination in common and rare fragile sites of various categories.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00286707
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  • 5
    Electronic Resource
    Electronic Resource
    The fragile site (16) (q22) (1986)
    Springer
    Human genetics 〈Berlin〉 74 (1986), S. 67-73 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The rare fragile site at 16q22 was experimentally induced in lymphocyte cultures with various AT-specific, non-intercalating DNA-ligands. The optimum conditions for the induction of fra (16)(q22) were determined. The best expression of fra (16)(q22) was found with the aromatic diamidine berenil which is recommended for further studies on this fragile site. The results indicate that fra (16)(q22) is a region with AT-rich, late replicating DNA. The simultaneous treatment of lymphocytes with berenil and aphidicolin (inhibitor of DNA polymerase α) induces both the rare fra (16) (q22) and the common fra (16) (q23) within the same chromosome. A population study on 350 unselected individuals showed that fra (16)(q22) is the most common of all rare autosomal fragile sites in man. The frequency of individuals heterozygous for fra (16)(q22) is 5.1% no homozygosity for fra (16) (q22) was detected. Statistical analysis indicates that the population is in Hardy-Weinberg equilibrium with respect to the fragile and non-fragile chromosomes 16.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00278788
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  • 6
    Electronic Resource
    Electronic Resource
    Inhibition of condensation in the late-replicating X chromosome induced by 5-azadeoxycytidine in human lymphocyte cultures (1988)
    Springer
    Human genetics 〈Berlin〉 79 (1988), S. 18-23 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The cytidine analogue 5-azadeoxycytidine (5-aza-dC) induces a very distinct inhibition of condensation in the genetically inactive, late-replicating X chromosome (XL) when applied to human lymphocyte cultures. One of the two X chromosomes in cytogenetically normal female cells becomes dramatically longer than its homologous partner. The highest rate of metaphases with an undercondensed XL chromosome is achieved when 5-aza-dC is added at a final concentration of 10-5 M 2 h before cell harvesting. The interactions between 5-aza-dC and chromosomal DNA as well as the factors involved in X chromosome inactivation are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291703
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  • 7
    Electronic Resource
    Electronic Resource
    Chromosome banding in Amphibia (1986)
    Springer
    Chromosoma 94 (1986), S. 139-145 
    Details
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The karyotype of the marsupial frog Gastrotheca riobambae is characterized by exceptionally highly differentiated XY♂/XX♀ sex chromosomes. The 18S and 28S ribosomal RNA genes were found only in the nucleolus organizer region (NOR) of the X chromosome by in situ hybridization, silver staining and mithramycin banding. This amphibian species therefore exhibits a sex-specific difference in the number of ribosomal RNA genes of about 2(♀)∶1(♂). This constitutes an extremely rare situation in the karyotype of vertebrates. Examination of various somatic tissues from female animals showed that the NORs on both X chromosomes are always active. The results are discussed in relation to the apparent absence of dosage compensation for sexlinked genes in the Amphibia.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00286992
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  • 8
    Electronic Resource
    Electronic Resource
    Chromosome banding in Amphibia (1987)
    Springer
    Chromosoma 95 (1987), S. 271-284 
    Details
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The karyotypes of 14 species of Anura from 9 genera of the suborders Amphicoela, Aglossa, Opisthocoela and Anomocoela were analysed with various banding techniques and conventional cytogenetic methods. The 18S + 28S and 5S ribosomal RNA genes were localized by means of in situ hybridization. No Q-, R- and G-banding patterns in the euchromatic segments of the metaphase chromosomes could be demonstrated in any of the species; this does not seem to be caused by a higher degree of spiralization of the amphibian chromosomes, but by the special DNA organization in these organisms. In most karyotypes, constitutive heterochromatin is present at centromeres, telomeres and nucleolus organizer regions (NORs), but rarely in interstitial positions. The heterochromatic regions are either quinacrine positive and mithramycin negative or vice versa. All species examined possess only one homologous pair of NORs; these display the brightest mithramycin fluorescence in the karyotypes. Many specimens exhibited unequal labelling of the two NORs both after silver and mithramycin staining as well as after in situ hybridization with 3H-18S + 28S rRNA. In four species, between one and six chromosome pairs with homologous 5S rRNA sites could be identified. The 5S rRNA genes and the 18S + 28S rRNA genes are closely linked in two species. In the male meiosis of the Amphicoela and Opisthocoela, there are intersitial, subterminal and terminal chiasmata in the bivalents, whereas only terminal chiasmata are observed in the bivalents of the Aglossa and Anomocoela. No heteromorphic sex-specific chromosomes could be demonstrated in any of the species. The differential staining techniques revealed that the chromosomal structure in these four suborders is largely the same as in the highly evolved anuran suborders Procoela and Diplasiocoela.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00294784
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  • 9
    Electronic Resource
    Electronic Resource
    Chromosome banding in Amphibia (1988)
    Springer
    Chromosoma 96 (1988), S. 283-290 
    Details
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Fixed metaphase chromosomes of several species of Amphibia were treated with various restriction endonucleases and subsequently stained with Giemsa. Metaphases of man and chicken were examined in parallel under the same experimental conditions for comparison. The restriction enzymes always induce subsets of the C-banding patterns present in the amphibian karyotypes. The heterochromatic regions can be either resistant or sensitive to the restriction enzyme. The modified C-banding patterns revealed by different restriction endonucleases in the karyotype of the same species can be either extremely dissimilar or almost completely congruent. Correspondingly, the action of the same restriction enzyme on the karyotypes of different species may vary greatly. There is only rarely a correlation between the type of C-banding patterns produced by different restriction endonucleases and their specific base pair recognition sequences. In contrast to mammalian and avian chromosomes, restriction enzymes induce no multiple G-banding patterns in amphibian chromosomes. This is attributed to the difference in organization of the DNA in the genomes of poikilothermic vertebrates. The possible mechanisms of restriction endonuclease banding and the various uses of this technique for amphibian chromosomes are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00286915
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  • 10
    Electronic Resource
    Electronic Resource
    Chromosome banding in Amphibia (1988)
    Springer
    Chromosoma 97 (1988), S. 33-42 
    Details
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The chromosomes of the South American marsupial frogs Gastrotheca fissipes, G. ovifera, G. walkeri and Flectonotus pygmaeus were analyzed by means of conventional and various banding techniques. The karyotypes of G. ovifera and G. walkeri are characterized by highly differentiated XY♂/XX♀ sex chromosomes. Whereas the X chromosomes and autosomes contain large amounts of constitutive heterochromatin, extremely little heterochromatin is located in the Y chromosomes. This is in contrast to all previously known amphibian Y chromosomes and the Y chromosomes of most other vertebrates. In the male meiosis of G. walkeri, the euchromatic segments of the heteromorphic XY chromosomes show the same pairing configuration as the autosomal bivalents. The karyotype of F. pygmaeus is remarkable for the unique presence of telocentric chromosomes and the high frequency of interstitially located chiasmata in the meiotic bivalents. The evolution of the karyotypes and sex chromosomes, the structure of the various classes of heterochromatin and the data obtained from meiotic analyses of the marsupial hylids are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00331793
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