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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
    Isolation and chromosomal localization of a human ATP-regulated potassium channel (1995)
    Springer
    Human genetics 〈Berlin〉 96 (1995), S. 155-160 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract KATP channels are K+ channels whose activity is inhibited by the presence of and enhanced by the absence of cytosolic ATP. This property allows KATP channels to sense cellular intermediary metabolism and directly couple this information to the modulation of membrane excitability. Indeed, recent studies from our laboratory and others have suggested that activation of KATP channels during anoxia is important in the response and adaptation of central neurons to hypoxia. In order to identify KATP channels from human brain, we performed a polymerase chain reaction (PCR) using human cerebral cortex mRNA and primers derived from the ROMK1 sequence, a cDNA clone encoding an ATP-regulated potassium channel, recently isolated from rat kidney. We thus identified a novel 308-bp PCR product, pKCNJ1, whose expression was found to be restricted to a 3.0-kb band in the kidney by probing a human multiple tissue northern blot. pKCNJ1 was then used to isolate genomic clones and, using fluorescence in situ hybridization (FISH) to human metaphase chromosomes, was mapped to chromosome 11q.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00207372
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  • 3
    Electronic Resource
    Electronic Resource
    Analysis of the organisation and localisation of the FSHD-associated tandem array in primates: implications for the origin and evolution of the 3.3 kb repeat family (1996)
    Springer
    Chromosoma 105 (1996), S. 180-189 
    Details
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. The D4Z4 locus is a polymorphic tandem repeat sequence on human chromosome 4q35. This locus is implicated in the neuromuscular disorder facioscapulohumeral muscular dystrophy (FSHD). The majority of sporadic cases of FSHD are associated with de novo DNA deletions within D4Z4. However, it is still not known how this rearrangement causes FSHD. Although the repeat contains homeobox sequences, despite exhaustive searching, no transcript from this locus has been identified. Therefore, it has been proposed that the deletion may invoke a position effect on a nearby gene. In order to try to understand the role of the D4Z4 repeat in this disease, we decided to investigate its conservation in other species. In this study, the long-range organisation and localisation of loci homologous to D4Z4 were investigated in primates using Southern blot analysis, pulsed field gel electrophoresis and fluorescence in situ hybridisation. In humans, probes to D4Z4 identify, in addition to the 4q35 locus, a closely related tandem repeat at 10qter and many related repeat loci mapping to the acrocentric chromosomes; a similar pattern was seen in all the great apes. In Old World monkeys, however, only one locus was detected in addition to that on the homologue of human chromosome 4, suggesting that the D4Z4 locus may have originated directly from the progenitor locus. The finding that tandem arrays closely related to D4Z4 have been maintained at loci homologous to human chromosome 4q35–qter in apes and Old World monkeys suggests a functionally important role for these sequences.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004120050173
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  • 4
    Electronic Resource
    Electronic Resource
    Mutation detection and single-molecule counting using isothermal rolling-circle amplification (1998)
    [s.l.] : Nature America Inc.
    Nature genetics 19 (1998), S. 225-232 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Rolling-circle amplification (RCA) driven by DNA polymerase can replicate circularized oligonucleotide probes with either linear or geometric kinetics under isothermal conditions. In the presence of two primers, one hybridizing to the + strand, and the other, to the – strand of DNA, a ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/898
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  • 5
    Electronic Resource
    Electronic Resource
    FISH with a twist (1997)
    [s.l.] : Nature Publishing Group
    Nature genetics 16 (1997), S. 217-218 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Biophysicists dream of a powerful microscope that would permit reading the sequence of DNA lying on a surface by observing chemical features of the individual bases, as if these were coloured beads on a chain. Meanwhile, cytogeneti-cists dream of detecting single-base changes inside cells by a ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/ng0797-217
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  • 6
    Electronic Resource
    Electronic Resource
    Karyotyping human chromosomes by combinatorial multi-fluor FISH (1996)
    [s.l.] : Nature Publishing Group
    Nature genetics 12 (1996), S. 368-375 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] We have developed epifluorescence filter sets and computer software for the detection and discrimination of 27 different DNA probes hybridized simultaneously. For karyotype analysis, a pool of human chromosome painting probes, each labelled with a different fluor combination, was hybridized to ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/ng0496-368
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  • 7
    Electronic Resource
    Electronic Resource
    Interphase fluorescence in situ hybridization mapping: a physical mapping strategy for plant species with large complex genomes (1996)
    Springer
    Molecular genetics and genomics 252 (1996), S. 497-502 
    Details
    ISSN: 1617-4623
    Keywords: Key words Fluorescence in situ hybridization (FISH) ; Interphase mapping ; Physical mapping ; Maize
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract  The chromatin in interphase nuclei is much less condensed than are metaphase chromosomes, making the resolving power of fluorescence in situ hybridization (FISH) two orders of magnitude higher in interphase nuclei than on metaphase chromosomes. In mammalian species it has been demonstrated that within a certain range the interphase distance between two FISH sites can be used to estimate the linear DNA distance between the two probes. The interphase mapping strategy has never been applied in plant species, mainly because of the low sensitivity of the FISH technique on plant chromosomes. Using a CCD (charge-coupled device) camera system, we demonstrate that DNA probes in the 4 to 8 kb range can be detected on both metaphase and interphase chromosomes in maize. DNA probes pA1-Lc and pSh2.5⋅SstISalI, which contain the maize loci a1 and sh2, respectively, and are separated by 140 kb, completely overlapped on metaphase chromosomes. However, when the two probes were mapped in interphase nuclei, the FISH signals were well separated from each other in 86% of the FISH sites analyzed. The average interphase distance between the two probes was 0.50 μm. This result suggests that the resolving power of interphase FISH mapping in plant species can be as little as 100 kb. We also mapped the interphase locations of another pair of probes, ksu3/4 and ksu16, which span the Rp1 complex controlling rust resistance of maize. Probes ksu3/4 and ksu16 were mapped genetically approximately 4 cM apart and their FISH signals were also overlapped on metaphase chromosomes. These two probes were separated by an average of 2.32 μm in interphase nuclei. The possibility of estimating the linear DNA distance between ksu3/4 and ksu16 is discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02172395
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  • 8
    Electronic Resource
    Electronic Resource
    The coloring of cytogenetics (1996)
    [s.l.] : Nature Publishing Group
    Nature medicine 2 (1996), S. 1046-1048 
    Details
    ISSN: 1546-170X
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Two recent papers, one from a group from Yale1 and the other from the NIH2 have documented the ability to identify each of the two dozen different human chromosomes — 22 autosomes and the X and Y sex chromosomes — with uniquely distinctive colors. By hybridizing sets of ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/nm0996-1046
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  • 9
    Electronic Resource
    Electronic Resource
    Colour-changing karyotyping: an alternative to M-FISH/SKY (1999)
    [s.l.] : Nature America Inc.
    Nature genetics 23 (1999), S. 263-264 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] We have developed an alternative multicolour karyotyping technique, called colour-changing karyotyping (CCK). Compared with other procedures, CCK uses only 3 fluorescent dyes to discriminate up to 41 different DNA probes when each probe is labelled with no more than 3 fluorescent- or ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/15437
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  • 10
    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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