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  • 1
    Electronic Resource
    Electronic Resource
    Chromosomal instability (1992)
    [s.l.] : Nature Publishing Group
    Nature 357 (1992), S. 548-548 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Sir âáᤠKadhim et al.1 studied clonal descendants from murine haematopoie-tic stem cells irradiated with a-particles from plutonium-238 (linear energy trans-fer, LET = 121 keV urn'1). They observed a high frequency of nonclonal chromosomal aberrations after 10-13 cell ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/357548a0
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  • 2
    Electronic Resource
    Electronic Resource
    Comparaison de la structure fine des chromatides d'Homo sapiens et de Pan troglodytes (1973)
    Springer
    Chromosoma 43 (1973), S. 423-444 
    Details
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Prometaphasic chromosomes of man and chimpanzee are compared, using R, Q, T and H-bands techniques. — Six pericentric inversions, one telomeric fusion-translocation, 4 intercalar deletions or insertions, 16 deletions or additions of terminal Q-bands, and an important variation of heterochromatin distinguish the 2 species. — The evolutive role of chromosomal rearrangements separating the 2 species is discussed with particular reference to the formation of human chromosome No 2.- The simultaneous analysis of human chromosomal pathology and of the chromosomal structures in primates should contribute to the understanding of accidental modifications of the genome and to the interpretation of their consequences.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00406748
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  • 3
    Electronic Resource
    Electronic Resource
    Characterisation of a very complex constitutive heterochromatin in two Gerbillus species (Rodentia) (1984)
    Springer
    Chromosoma 89 (1984), S. 42-47 
    Details
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A large amount of heterochromatin is observed in two species of the genus Gerbillus, G. nigeriae and G. hesperinus. The C-band material represents about one-half of the total karyotype length in the former species, and about one-third in the latter. Several banding techniques and various 5-bromodeoxyuridine (BrdU) treatments were used to characterise these heterochromatic segments. After applying the R-banding technique, three different staining responses of the heterochromatin can be distinguished. In G. nigeriae, strongly stained segments (R-band positive) appear in most chromosomes and, in particular, constitute the short arms of all the larger chromosomes. Palely staining heterochromatic segments (R-band negative) are less abundant in G. nigeriae but predominate in G. hesperinus. In addition, in both species an intermediate staining of heterochromatin is observed near the centromere or in the heterochromatic short arms of some acrocentric and small submetacentric chromosomes. Very short BrdU treatment during the end of the last cell cycle results in asymmetrical staining of chromatids in heterochromatic segments after applying the acridine orange or FPG (fluorescence plus Giemsa) technique. The alternating location of strongly staining segments in one or the other chromatid simulates sister chromatid exchanges (“pseudo-SCE”). This pattern persists after longer BrdU treatment during different stages of the last cell cycle and is independent of the R-staining properties of the heterochromatin. The lateral asymmetric appearance of the large heterochromatic segments in Gerbillus is interpreted as reflecting an uneven distribution of adenine and thymidine between the two strands of DNA.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00302349
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  • 4
    Electronic Resource
    Electronic Resource
    Analyse de la structure fine des chromosomes du Gorille (Gorilla gorilla) (1973)
    Springer
    Human genetics 〈Berlin〉 20 (1973), S. 343-354 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Prometaphase-Chromosomen von Gorilla, Mensch und Schimpanse werden mit hilfe der R-, Q-, T- und H-Bandentechnik verglichen; frühere Arbeiten (Lejeune et al., 1973) werden dadurch ergänzt. Verschiedene Mechanismen von Chromosomen-Rearrangements werden dargestellt; dabei finden die Heterochromatin-Segmente besondere Beachtung. Einige phylogenetische Folgerungen werden gezogen.
    Notes: Summary Prometaphasic chromosomes of Gorilla, Homo and Pan are compared, using R, Q, T and H-bands techniques in complement of a previous work (Lejeune et al., 1973). Various mechanisms of chromosomal rearrangements are demonstrated with particular reference to heterochromatic segments. Some phylogenic conclusions are proposed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00273338
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  • 5
    Electronic Resource
    Electronic Resource
    Detection of G-C rich heterochromatin by 5-azacytidine in mammals (1981)
    Springer
    Human genetics 〈Berlin〉 57 (1981), S. 134-137 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A new effect of 5-ACR (5-azacytidine), observed in fibroblast or kidney cell cultures is described in the calf (Bos taurus) and in some selected primates (Cebus capucinus, Erythrocebus patas, and Cercopithecus cephus). This cytidine analogue, used at low doses during the last late S phase, prevents the condensation of R-band positive heterochromatin (G-C rich segments). Thus, 5-ACR treatment can be used as a simple method for the detection of G-C rich heterochromatin.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00282008
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  • 6
    Electronic Resource
    Electronic Resource
    High resolution R- and G-banding on the same preparation (1981)
    Springer
    Human genetics 〈Berlin〉 57 (1981), S. 93-95 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A simple method using bromodeoxyuridine (BrdU), for both cell synchronization and incorporation into replicating DNA is described. Many prophasic and prometaphasic mitoses were observed, and due to the probable blocking at different times of the cell cycle, very good R-banding and G-banding were obtained simultaneously on the same preparation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00271176
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  • 7
    Electronic Resource
    Electronic Resource
    Identification of a break-prone structure in the 9q1 heterochromatic region (1991)
    Springer
    Human genetics 〈Berlin〉 86 (1991), S. 261-264 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The unusual behaviour of the 9q1 human chromosome region is studied in various conditions. In controls with normal chromosomes 9, del(9q1) is the most frequent spontaneously occurring deletion. This deletion is highly inducible by melphalan, an S phase-dependent alkylating agent. This may correspond to the uncovering of pre-existing DNA breaks in this region. In a 46,XX,9qh+ control, melphalan does not induce deletions any more efficiently than in donors with normal chromosomes 9. In a46,XY,inv(9)(p11q1205) donor, all deletions of inv(9) affect the short, but not the long, arm. This indicates that the sensitive segment is not the whole heterochromatic region, but rather a limited structure. The high rate of rearrangements affecting this structure may be responsible for somatic crossing over, leading to loss of heterozygosity for 9q, and to the frequent occurrence of inv(9) in human populations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00202405
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  • 8
    Electronic Resource
    Electronic Resource
    High recurrence of rearrangements involving chromosome 14 in an ataxia telangiectasia lymphoblastoid cell line and in its mutagen-treated derivatives (1991)
    Springer
    Human genetics 〈Berlin〉 86 (1991), S. 475-480 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The cytogenetic characterization of CH cell line obtained by Epstein-Barr-virus transformation of the lymphocytes of a patient affected by ataxia telangiectasia is reported. Control CH cells and 2 subcultures treated with the mutagens R7000 or NQO were developed in parallel and studied. A common chromosome anomaly, a der(14) t(11;14) (q13.2;q32), was found in all the studied karyotypes, indicating that it occurred either in vivo or early in vitro. In non-treated cultures, additional anomalies were present in 6 derived subclones. All R-7000 treated cells had the same karyotype corresponding to one of the subclones observed without prior treatment. All NQO-treated cells acquired 2 common anomalies, and could be differentiated into 2 subclones because of the addition of a t(7;14) or a t(11;14). Chromosome 14 was involved in various rearrangements after breakage in band q11.2 or q12 in 6/8 subclones. This was not correlated with tumorigenicity, which was clearly increased in mutagen-treated cells as tested by in vitro growth in semi-solid medium and in vivo by grafts into nude mice or growth on the chorio-allantoic membrane of chick embryos. The CH cell line and its derivatives appear to be a promising in vitro system, showing various stages progressing towards malignancy, and reproducing a number of chromosome anomalies spontaneously occurring in AT patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00194636
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  • 9
    Electronic Resource
    Electronic Resource
    Increase of sister chromatid exchanges in excision repair deficient xeroderma pigmentosum (1989)
    Springer
    Human genetics 〈Berlin〉 81 (1989), S. 221-225 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The distribution of spontaneous sister chromatid exchanges (SCEs) was studied in PHA-stimulated lymphocytes from 15 patients affected by xeroderma pigmentosum (XP). The study of unscheduled DNA synthesis (UDS) in twelve of these patients showed that seven were deficient and five proficient. The number of SCEs in XP patient cells was higher than in those of 19 controls, and the distributions of SCEs per cell were significantly different. However, the results varied when XP patients were considered in relation to their UDS: the group of XP patients with proficient UDS did not differ, whereas the group of XP patients with deficient UDS was very significantly different from controls. The group not tested for UDS was similar to the deficient UDS group. The possible relationship between the increase of SCEs and the type of DNA repair defect is discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00278992
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  • 10
    Electronic Resource
    Electronic Resource
    Skewed inactivation of an X chromosome deleted at the dystrophin gene in an asymptomatic mother and her affected daughter (1994)
    Springer
    Human genetics 〈Berlin〉 93 (1994), S. 563-567 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A girl with severe Becker muscular dystrophy and apparently normal chromosomes had a heterozygous deletion for exons 51, 52, and 53 of the dystrophin gene. This deletion was transmitted by her mother, who was unaffected. To differentiate the normal and the deleted X chromosomes, fluorescence in situ hybridization (FISH) was applied to metaphase chromosomes, using probes for both exons 51 and 52, which are only 388 and 113 base pairs long, respectively. FISH signals were observed in one or both chromatids of one chromosome, but never on both chromosomes, suggesting the lack of hybridization on the deleted X chromosome. Using 5-bromodeoxyuridine incorporation to differentiate the late (inactive) and the early replicating (active) X chromosomes, 77% of the signals were observed on the active X chromosomes in the mother. This percentage was only 18% in the daughter, suggesting that skewed inactivation of the X chromosomes was responsible for the phenotypic differences.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00202824
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