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  • Chromosome  (1)
  • facioscapulohumeral muscular dystrophy (FSHD)  (1)
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  • 1
    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
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  • 2
    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
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