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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Chromosoma 106 (1997), S. 276-283 
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. The initiation and progression of homologous chromosome pairing at meiosis were investigated in female mice. The proximal end of the X chromosome was identified in fetal oocytes using fluorescence in situ hybridisation with the repeat copy probe 70-38. The X centromeres appeared to be randomly positioned in the nuclei from pre-meiotic interphase to leptotene. The observations indicated no pre-synaptic association for the proximal end of the X chromosome. There was a significant increase in the number of paired X centromeres from mid-zygotene to late zygotene. The proximal end of the X chromosome is therefore a generally late pairing region with no significant association seen before mid-zygotene. The centromeric heterochromatin of all chromosomes could be seen to associate into varying numbers of clusters during pre-leptotene through to pachytene. These clusters do not seem to be directly involved in bringing homologues together, as X centromeres did not consistently localise to the same cluster.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract . The oocytes of a 17 week human fetus carrying an unbalanced 46,XX,add(18)(p13) translocation were studied with a sequential combination of microspreading, immunocytogenetics, fluorescence in situ hybridization (FISH) and transmission electron microscopy. This combination of technologies allowed the collection of data of unique accuracy and resolution. The translocated chromosome was found to be involved in five different synaptic configurations. A consistent feature of these configurations was the involvement of a second small bivalent, presumably chromosome 21 or 22, the normal synapsis of which was often disrupted. We conclude that chromosome 21 or 22 was the source of the translocated material, which was found to be either homologously triply synapsed, heterologously synapsed or asynapsed.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Understanding the segregational behaviour of reciprocal tranlocations in man is of both theoretical and clinical importance. Generally, information for genetic counselling is obtained from empirical data although knowledge of gametic output can now be obtained by karyotyping individual human spermatozoa. However, neither empirical studies nor sperm karyotyping data provide detailed information on how the combinations of normal, balanced and unbalanced gametes arise. For this knowledge of quadrivalent orientation and first meiotic segregation is required. We have used dual colour fluorescence in situ hybridisation (FISH) to identify normal and derived chromosomes during meiosis in testicular biopsy material from a 46,XY,t(15;20)(q11.2;q11.2) heterozygote. We were able to determine the frequencies of different quadrivalent structures at first metaphase (MI) and the proportion of first meiotic divisions subject to interstitial chiasmata. Having identified all 2:2, 3:1 and 4:0 segregation products at second metaphase, it was possible to correlate segregation categories with the various forms of MI quadrivalent possibly indicating their modes of orientation. Finally the ratios of normal:balanced:unbalanced gametes expected to be produced by this translocation heterozygote were calculated.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1573-6849
    Keywords: meiosis ; spatial organization ; XY chromosomes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract We have used multicolour fluorescencein situ hybridization to study the behaviour of the X and Y chromosomes in relation to a representative autosome, chromosome 1, on air-dried testicular preparations from normal fertile human males. In a proportion of Sertoli cells at interphase as well as spermatogonial metaphases there is an apparent selective undercondensation of the heterochromatic block of the long arm of the Y, which may be of functional significance with respect to Y-specific gene activity, initiating and maintaining spermatogenesis; we suggest that this may involve a mechanism similar to heterochromatin position-effect variegation inDrosophila. In the supporting Sertoli as well as pre-meiotic and leptotene cells the X and Y occupy relatively restricted domains at opposite poles of the nuclear membrane, while the chromosome 1 centromere regions are located interstitially and appear prealigned. The XY pairing and ‘sex vesicle’ formation comprises a complex series of spatial movement and differential condensation patterns. On the basis of these observations we propose that: the XIST/Xist gene, known to be involved in somatic X inactivation, imposes a chromatin reorganization leading to bending at the X-inactivation centre both at first meiotic prophase in males and in the soma in females; and the differential X and Y segments are protected from potentially deleterious meiotic exchanges by their separate spatial orientation. In addition, there is an indication that the timing of pairing and first meiotic segregation of the sex chromosomes is different, and precocious in comparison to the pairing and segregation of the autosomes, which may explain the high incidence of sex chromosome aneuploidy in sperm.
    Type of Medium: Electronic Resource
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