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  • 1
    Electronic Resource
    Electronic Resource
    Interhomologue sequence variation of alpha satellite DNA from human chromosome 17: Evidence for concerted evolution along haplotypic lineages (1995)
    Springer
    Journal of molecular evolution 41 (1995), S. 1006-1015 
    Details
    ISSN: 1432-1432
    Keywords: Human chromosome 17 ; Tandemly repeated DNA ; Evolution of satellite DNA ; Sequence homogenization ; Concerted evolution ; Molecular drive
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract Alpha satellite DNA is a family of tandemly repeated DNA found at the centromeres of all primate chromosomes. Different human chromosomes 17 in the population are characterized by distinct alpha satellite haplotypes, distinguished by the presence of variant repeat forms that have precise monomeric deletions. Pairwise comparisons of sequence diversity between variant repeat units from each haplotype show that they are closely related in sequence. Direct sequencing of PCR-amplified alpha satellite reveals heterogeneous positions between the repeat units on a chromosome as two bands at the same position on a sequencing ladder. No variation was detected in the sequence and location of these heterogeneous positions between chromosomes 17 from the same haplotype, but distinct patterns of variation were detected between chromosomes from different haplotypes. Subsequent sequence analysis of individual repeats from each haplotype confirmed the presence of extensive haplotype-specific sequence variation. Phylogenetic inference yielded a tree that suggests these chromosome 17 repeat units evolve principally along haplotypic lineages. These studies allow insight into the relative rates and/or timing of genetic turnover processes that lead to the homogenization of tandem DNA families.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00173182
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  • 2
    Electronic Resource
    Electronic Resource
    Organization and evolution of an alpha satellite DNA subset shared by human chromosomes 13 and 21 (1993)
    Springer
    Journal of molecular evolution 37 (1993), S. 464-475 
    Details
    ISSN: 1432-1432
    Keywords: Human chromosomes 13 and 21 ; tandemly repeated DNA ; Restriction fragment length polymorphism ; Inter- and intrachromosomal homogenization ; Evolution of satellite DNA ; Ancestral repeat
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract The structure of the alpha satellite DNA higher-order repeat (HOR) unit from a subset shared by human chromosomes 13 and 21 (D13Z1 and D21Z1) has been examined in detail. By using a panel of hybrids possessing either a chromosome 13 or a chromosome 21, different HOR unit genotypes on chromosomes 13 and 21 have been distinguished. We have also determined the basis for a variant HOR unit structure found on ∼8% of chromosomes 13 but not at all on chromosomes 21. Genomic restriction maps of the HOR units found on the two chromosome 13 genotypes and on the chromosome 21 genotype are constructed and compared. The nucleotide sequence of a predominant 1.9-kilobasepair HOR unit from the D13Z1/D21Z1 subset has been determined. The DNA sequences of different alpha satellite monomers comprising the HOR are compared, and the data are used to develop a model, based on unequal crossing-over, for the evolution of the current HOR unit found at the centromeres of both these chromosomes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00160427
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  • 3
    Electronic Resource
    Electronic Resource
    Providing a little stability (1997)
    [s.l.] : Nature Publishing Group
    Nature 386 (1997), S. 553-555 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Molecular genetics and the explosion of information from the Human Genome Project will increasingly affect healthcare, as is already apparent in improved diagnostics and the understanding of many diseases. One exciting prospect is somatic gene therapy - the delivery (into cells) of DNA with ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/386553a0
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  • 4
    Electronic Resource
    Electronic Resource
    Hamster chromosomes containing amplified human α-satellite DNA show delayed sister chromatid separation in the absence of de novo kinetochore formation (1997)
    Springer
    Chromosoma 106 (1997), S. 149-159 
    Details
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. The centromeres of human chromosomes contain large amounts of the tandemly repeated α-satellite DNA family. Previous studies have shown that integration of α-satellite DNA into ectopic locations in mammalian chromosomes can result in the de novo formation of several features of centromeric function. Here we further examine the possible centromeric properties of α-satellite DNA by introducing it into hamster chromosomes. A large amplified region of ectopic α-satellite DNA was shown to direct binding of anticentromere antibodies (ACAs) and centromere protein B (CENP-B). The chromosome containing these ectopic arrays showed a high frequency of formation of anaphase bridges. Owing to the favourable morphology of these chromosomes, we were able to determine that this bridging was due to delayed sister chromatid disjunction at the location of the ectopic α-satellite, and not due to de novo formation of a fully functional kinetochore. A separate hamster cell line containing large tandemly repeated amplicons including the DHFR gene also displayed similar behaviour during anaphase. These results may support a role for α-satellite DNA in sister chromatid cohesion at centromeres. However, other repetitive DNA in favourable configurations appears to be capable of mimicking this behaviour during anaphase.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004120050234
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  • 5
    Electronic Resource
    Electronic Resource
    A neocentromere in the DAZ region of the human Y chromosome (2000)
    Springer
    Chromosoma 109 (2000), S. 318-327 
    Details
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. We describe a novel rearranged human Y chromosome consisting of an inverted duplication of the long arm heterochromatin and a small amount of euchromatin: rea(Y)(qter–q11.2::q11.2–qter). The normal centromere has been deleted and a neocentromere containing CENP-A, -C, -E and Mad2 but not CENP-B has formed close to the breakpoint. A 2.7 Mb yeast artificial chromosome contig spanning the breakpoint was constructed and the breakpoint was localised to a region of 〈120 kb close to the DAZ gene cluster. Combined immunofluorescence and fluorescence in situ hybridisation showed that the centromeric protein-binding domain of the neocentromere was located near the breakpoint and within the DAZ cluster.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004120000081
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  • 6
    Electronic Resource
    Electronic Resource
    Untangling the role of DNA topoisomerase II in mitotic chromosome structure and function (1997)
    New York, NY : Wiley-Blackwell
    BioEssays 19 (1997), S. 97-99 
    Details
    ISSN: 0265-9247
    Keywords: Life and Medical Sciences ; Cell & Developmental Biology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Medicine
    Notes: DNA topoisomerase II (topo II) is involved in chromosome structure and function, although its exact location and role in mitosis are somewhat controversial. This is due in part to the varied reports of its localization on mitotic chromosomes, which has been described at different times as uniformly distributed, axial on the chromosome arms and predominantly centromeric. These disparate results are probably due to several factors, including use of different preparation and fixation techniques, species differences and changes in distribution during the cell cycle. Recently, several papers have re-investigated the distribution of topo II on chromosomes as a function of cell cycle and species(1-3). The new studies suggest that Topo II has a dynamic pattern of distribution on the chromosomes, in general becoming axial as chromosomes condense during prophase and then concentrating at centromeres during metaphase. These experiments suggest a novel role for topo II in centromere structure and function.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1002/bies.950190203
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