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  • 1
    Electronic Resource
    Electronic Resource
    Chromosomal localization of long trinucleotide repeats in the human genome by fluorescence in situ hybridization (1996)
    [s.l.] : Nature Publishing Group
    Nature genetics 12 (1996), S. 183-185 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Biotinylated CTG polymers were hybridized to metaphase spreads of a DM patient with a very large CTG expansion of 〈6 kilobases (kb). Essentially all metaphases showed a strong hybridization signal to a single chromosome—19ql3— consisting of a discrete dot on each sister chromatid ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/ng0296-183
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  • 2
    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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  • 3
    Electronic Resource
    Electronic Resource
    300 million years of conserved synteny between chicken Z and human chromosome 9 (1999)
    [s.l.] : Nature America Inc.
    Nature genetics 21 (1999), S. 258-259 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Birds diverged from mammals 300–350 million years ago (Mya). In mammals, the male is the heterogametic sex (XY male and XX female) and 'maleness' is under the control of a testis-determining factor, SRY, located on the Y chromosome. In contrast, sex determination in birds operates through a ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/6769
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  • 4
    Electronic Resource
    Electronic Resource
    Genome evolution Global methylation in eutherian hybrids (1999)
    [s.l.] : Macmillan Magazines Ltd.
    Nature 401 (1999), S. 131-132 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] O'Neill et al. propose that epigenetic pro-cesses help to drive karyotypic evolution in marsupials. Here we present evidence that global methylation patterns do not undergo dramatic changes in interspecific hybrids among three orders of placental mammals, indicating that the mechanisms ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/43607
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  • 5
    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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  • 6
    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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  • 7
    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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  • 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
    IRS-PCR-based genetic mapping of the huntingtin interacting protein gene (HIP1) on mouse Chromosome 5 (1998)
    Springer
    Mammalian genome 9 (1998), S. 26-31 
    Details
    ISSN: 1432-1777
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. Huntington's disease (HD) is a devastating central nervous system disorder. Even though the gene responsible has been positionally cloned recently, its etiology has remained largely unclear. To investigate potential disease mechanisms, we conducted a search for binding partners of the HD-protein huntingtin. With the yeast two-hybrid system, one such interacting factor, the huntingtin interacting protein-1 (HIP-1), was identified (Wanker et al. 1997; Kalchman et al. 1997) and the human gene mapped to 7q11.2. In this paper we demonstrate the localization of the HIP1 mouse homologue (Hip1) into a previously identified region of human-mouse synteny on distal mouse Chromosome (Chr) 5, both employing an IRS-PCR-based mapping strategy and traditional fluorescent in situ hybridization (FISH) mapping.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s003359900674
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  • 10
    Electronic Resource
    Electronic Resource
    Orangutan α-satellite monomers are closely related to the human consensus sequence (1998)
    Springer
    Mammalian genome 9 (1998), S. 440-447 
    Details
    ISSN: 1432-1777
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. Alpha-satellite is a family of tandemly repeated DNA found at the centromeric regions of all human and primate chromosomes. Human α-satellite subsets are largely chromosome-specific and have been further grouped into four suprachromosomal families (SFs), each characterized by a unique set of monomeric types. Although chimpanzee and gorilla α-satellites share sufficient sequence similarity to fit the established SFs, the assumption that the derived human α-satellite consensus and monomeric types represent the sequence of ancestral repeats remains unestablished. By using oligonucleotide primers specific for a conserved region of human α-satellite DNA, we have PCR amplified, cloned, and characterized α-satellite sequences from the orangutan genome. Nucleotide sequence analysis demonstrated that orangutan α-satellite is formed by a single monomeric type that is significantly closer in percentage of sequence identity (mean = 92%, range = 89–96%) to the overall consensus of human α-satellite than to the monomeric types corresponding to the four SFs. Use of cloned sequences as hybridization probes to orangutan genomic DNA digested with a panel of restriction enzymes showed that most orangutan α-satellite subsets are characterized by a monomeric construction. The subset homologous to clone PPY2-5 is organized in distinct higher-order repeat structures consisting of 18 adjacent monomers. By FISH two clones, PPY3-4 and PPY3-5, proved to be specific for the α-satellite on the orangutan homologs of human Chromosomes (Chrs) 10 and 8, respectively. Our data indicate that there was an ancestral monomeric type displaying high sequence similarity to the overall human consensus from which the different great ape and human subsets and SFs may have originated.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s003359900793
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