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  • 1
    Electronic Resource
    Electronic Resource
    Presence and abundance of CENP-B box sequences in great ape subsets of primate-specific α-satellite DNA (1995)
    Springer
    Journal of molecular evolution 41 (1995), S. 487-491 
    Details
    ISSN: 1432-1432
    Keywords: Centromere ; Chromosome ; Concerted evolution ; CENP-B box sequence ; α-Satellite DNA ; Hominoids ; Primates
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract CENP-B, a highly conserved centromere-associated protein, binds to α-satellite DNA, the centromeric satellite of primate chromosomes, at a 17-bp sequence, the CENP-B box. By fluorescence in situ hybridization (FISH) with an oligomer specific for the CENP-B box sequence, we have demonstrated the abundance of CENP-B boxes on all chromosomes (except the Y) of humans, chimpanzee, pygmy chimpanzee, gorilla, and orangutan. This sequence motif was not detected in the genomes of other primates, including gibbons, Old and New World monkeys, and prosimians. Our results indicate that the CENP-B box containing subtype of α-satellite DNA may have emerged recently in the evolution of the large-bodied hominoids, after divergence of the phylogenetic lines leading to gibbons and apes; the box is thus on the order of 15–25 million years of age. The rapid process of dispersal and fixation of the CENP-B box sequence throughout the human and great ape genomes is thought to be a consequence of concerted evolution of α-satellite subsets on both homologous and nonhomologous chromosomes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00160320
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  • 2
    Electronic Resource
    Electronic Resource
    Y isochromosome associated with a mosaic karyotype and inactivation of the centromere (1990)
    Springer
    Human genetics 〈Berlin〉 85 (1990), S. 486-490 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A patient with azoospermia and a Y isochromosome is described. The breakpoint producing this i(Y) was within the terminal short arm of the Y chromosome. Lymphocyte cultures from peripheral blood contained a high proportion of 45,X cells and cells with different Y-chromosome rearrangements. The i(Y) had either a monocentric or dicentric appearance. In dicentrics, anti-kinetochore immunofluorescence was present at both centromeres. However, this was also true for most of the functional monocentrics (pseudodicentrics). Kinetochore staining was generally positive at the site of the inactive centromeres; only a minority of the suppressed centromeres had lost their antigenic properties. Permanently growing lymphoblasts consistently showed a monocentric i(Y) with only one fluorescing kinetochore; the immunonegative Y centromere did not recover antigenicity.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00194221
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  • 3
    Electronic Resource
    Electronic Resource
    Chromosome-specific α-satellite DNA from the centromere of chimpanzee chromosome 4 (1997)
    Springer
    Chromosoma 106 (1997), S. 226-232 
    Details
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. The centromeric regions of human and primate chromosomes are characterized by diverged subsets of tandemly repeated α-satellite DNA. Comparison of the α-satellites on known homologous chromosomes in human and chimpanzee provides insight into the very rapid evolution of satellite DNA sequences and the mechanisms that shape complex genomes. By using oligonucleotide primers specific for a conserved region of human α-satellite DNA, we have amplified a chromosome-specific α-satellite subset from the chimpanzee genome by the polymerase chain reaction. Fluorescence in situ hybridization showed that clones pαPTR4N and pαPTR4H are homologous to sequences at the centromere of the chimpanzee chromosome 4. This α-satellite subset is organized as a series of pentameric (higher-order) repeats, operationally defined by digestion of genomic DNA with HaeIII, MboI, RsaI, SstI, and XbaI. The lengths of four independent centromeric arrays measured by pulsed-field gel electrophoresis varied between 800 and 3,500 kb (mean = 1,850 kb, SD = 1,000 kb). Nucleotide sequence analysis demonstrated that chimpanzee chromosome 4 α-satellite is most closely related to the suprachromosomal subfamily II, which is evolutionarily different from the subfamily I to which the α-satellite on the homologous human chromosome 5 belongs. This implies that the human-chimpanzee sequence divergence has not arisen from a common ancestral α-satellite repeat(s) but instead represents concerted evolution of distinct repeats on homologous chromosomes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004120050243
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  • 4
    Electronic Resource
    Electronic Resource
    Region-specific YAC banding and painting probes for comparative genome mapping: implications for the evolution of human chromosome 2 (1996)
    Springer
    Chromosoma 104 (1996), S. 537-544 
    Details
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract To date, several hundred nonchimeric yeast artificial chromosomes (YACs) from the Centre d'Étude du Polymorphisme Humain containing polymorphic sequence-tagged sites have been mapped by fluoresence in situ hybridization (FISH) on human metaphase chromosomes. Because they carry an average of 1 Mb of human genomic DNA, CEPH YACs generate high-intensity in situ hybridization signals. The available set of cytogenetically and genetically anchored YACs, approximately one every 5–10 cM evenly spaced over almost the entire human genome, provides complex region-specific probes for molecular cytogenetics. YAC probes can be adapted with unlimited flexibility to specific FISH applications such as the study of chromosomal evolution. We have generated representational probes for YAC banding and painting of human chromosome 2 and its great ape homologs. Convergent inversions were found in the pericentric region of the gorilla and orangutan homologs of chromosome 2p.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00352293
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  • 5
    Electronic Resource
    Electronic Resource
    Region-specific YAC banding and painting probes for comparative genome mapping: implications for the evolution of human chromosome 2 (1996)
    Springer
    Chromosoma 104 (1996), S. 537-544 
    Details
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. To date, several hundred nonchimeric yeast artificial chromosomes (YACs) from the Centre d’Étude du Polymorphisme Humain containing polymorphic sequence-tagged sites have been mapped by fluoresence in situ hybridization (FISH) on human metaphase chromosomes. Because they carry an average of 1 Mb of human genomic DNA, CEPH YACs generate high-intensity in situ hybridization signals. The available set of cytogenetically and genetically anchored YACs, approximately one every 5–10 cM evenly spaced over almost the entire human genome, provides complex region-specific probes for molecular cytogenetics. YAC probes can be adapted with unlimited flexibility to specific FISH applications such as the study of chromosomal evolution. We have generated representational probes for YAC banding and painting of human chromosome 2 and its great ape homologs. Convergent inversions were found in the pericentric region of the gorilla and orangutan homologs of chromosome 2p.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00352293
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  • 6
    Electronic Resource
    Electronic Resource
    Kinetochore formation in experimentally undercondensed chromosomes (1990)
    Springer
    Human genetics 〈Berlin〉 84 (1990), S. 535-538 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Treatment of human and mouse cell cultures with the cytidine analogue 5-azadeoxycytidine and the AT-specific DNA ligand Hoechst 33258 dramatically inhibited condensation of the pericentromeric heterochromatin in several chromosomes. When stained with antikinetochore autoimmune sera, these experimentally undercondensed chromosomes showed kinetochores with preserved antigenicity. The undercondensed and normally condensed chromosomes share the major antigenic determinants of the kinetochore.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00210805
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  • 7
    Electronic Resource
    Electronic Resource
    Classical and Molecular Cytogenetics of the Pufferfish Tetraodon Nigroviridis (1999)
    Springer
    Chromosome research 7 (1999), S. 655-662 
    Details
    ISSN: 1573-6849
    Keywords: FISH ; Fugu rubripes ; heterochromatin ; Huntingtin ; NOR ; pufferfish ; replication banding ; Tetraodon nigroviridis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract Because of its highly compact genome, the pufferfish has become an important animal model in genome research. Although the small chromosome size renders chromosome analysis difficult, we have established both classical and molecular cytogenetics in the freshwater pufferfish Tetraodon nigroviridis (TNI). The karyotype of T. nigroviridis consists of 2n = 42 biarmed chromosomes, in contrast to the known 2n = 44 chromosomes of the Japanese pufferfish Fugu rubripes (FRU). RBA banding can identify homologous chromosomes in both species. TNI 1 corresponds to two smaller FRU chromosomes, explaining the difference in chromosome number. TNI 2 is homologous to FRU 1. Fluorescence in-situ hybridization (FISH) allows one to map single-copy sequences, i.e. the Huntingtin gene, on chromosomes of the species of origin and also on chromosomes of the heterologous pufferfish species. Hybridization of total genomic DNA shows large blocks of (species-specific) repetitive sequences in the pericentromeric region of all TNI and FRU chromosomes. Hybridization with cloned human rDNA and classical silver staining reveal two large and actively transcribed rRNA gene clusters. Similar to the situation in mammals, the highly compact pufferfish genome is endowed with considerable amounts of localized repeat DNAs.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1009292220760
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  • 8
    Electronic Resource
    Electronic Resource
    In Situ Hybridization: Laboratory Companion, Melody Clark (ed.) Chapman & Hall, 1996. ISBN 3 8261 0038 7 (1997)
    Springer
    Chromosome research 5 (1997), S. 74-75 
    Details
    ISSN: 1573-6849
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1011697505096
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  • 9
    Electronic Resource
    Electronic Resource
    Somatic Pairing Between Subtelomeric Chromosome Regions: Implications for Human Genetic Disease? (1999)
    Springer
    Chromosome research 7 (1999), S. 323-329 
    Details
    ISSN: 1573-6849
    Keywords: facioscapulohumeral muscular dystrophy (FSHD) ; fluorescence in-situ hybridization (FISH) ; interphase cytogenetics ; somatic pairing ; subtelomeric regions
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract Fluorescence in-situ hybridization (FISH) has been used to study the spatial orientation of subtelomeric chromosome regions in the interphase nucleus. Compared to interstitial chromosomal sites, subtelomeres showed an increased number of somatic pairings. However, pairing frequency also depended on the specific regions involved and varied both between different subtelomeres and between different interstitial regions. An increased incidence of somatic pairing may play at least some role in the frequent involvement of the subtelomeres in cytogenetically cryptic chromosome rearrangements. In patients suffering from facioscapulohumeral muscular dystrophy (FSHD), which is associated with a deletion of subtelomeric repeats, the FSHD region on 4qter showed a changed pairing behavior, which could be indicative of a position effect and/or trans-sensing effect as a cause for disease.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1009287111661
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  • 10
    Electronic Resource
    Electronic Resource
    Cytogenetics of the Genus Leporinus (Pisces, Anostomidae). II. Molecular Cytogenetics, Organization and Evolutionary Conservation of a Chromosome-Specific Satellite DNA from Leporinus obtusidens (1997)
    Springer
    Chromosome research 5 (1997), S. 325-331 
    Details
    ISSN: 1573-6849
    Keywords: evolution ; fish molecular cytogenetics ; Leporinus ; satellite DNA
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract A chromosome-specific satellite DNA from the South American fish species Leporinus obtusidens has been isolated and characterized. Sequence analysis and Southern hybridization studies indicate that the cloned 483-bp fragment is 60% AT rich and appears to comprise two diverged monomers. A highly variable low-copy number polymorphism was detected and, thus, this satellite DNA may serve as a valuable genetic marker. Using a Southern blot approach, the cloned satellite DNA cross-hybridized strongly to the DNA of Leporinus elongatus but failed to detect homologous sequences in the genomes of other closely related Leporinus species and higher vertebrates. Using fluorescence in situ hybridization to mitotic metaphase spreads of L. obtusidens and L. elongatus, this satellite DNA was located to the (peri)centromeric region of one single chromosome pair in both species. As the cloned satellite DNA sequence clearly evolved along a chromosomal lineage and is highly variable, it may serve as a very useful marker in further genetic, molecular and cytogenetic studies of the genus Leporinus.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/B:CHRO.0000038763.52875.48
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