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Padlock probes reveal single-nucleotide differences, parent of origin and in situ distribution of centromeric sequences in human chromosomes 13 and 21

Nature Genetics volume 16, pages 252–255 (1997)Cite this article

Abstract

Chromosome centromeres, composed of repeated DNA sequences, orchestrate the correct segregation of chromatids in cell division. We have examined the centromeres of human chromosomes 13 and 21 by studying the distribution, in situ, of two alpha satellite sequences that differ in a single nucleotide position1. This was possible using padlock probes, oligo-nucleotides that can be ligated into circles upon target recognition2. The segregation of individual 13 and 21 homologues in a family was followed by monitoring of the signals from two differentially labelled probes, specific for either sequence variant. A characteristic arrangement of the repeat motifs in three separate spots, oriented transverse to the length axis of the meta-phase chromosomes and bilaterally symmetric, indicates that only parts of the detected regions are involved in the centromeric region, joining the sister chromatids before anaphase.

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Author notes

  1. Mats Nilsson and Katerina Krejci: M.N. and K.K. contributed equally to this work.

Authors and Affiliations

  1. Beijer Laboratory, Department of Medical Genetics, Biomedical Centre, Box 589, S-75123, Uppsala, Sweden

    Mats Nilsson, Marek Kwiatkowski & Ulf Landegren

  2. Department of Cytogenetics, Danish Cancer Society, Tage Hansens Gade 2, DK-8000, Aarhus C, Denmark

    Katerina Krejci & Jørn Koch

  3. Department of Clinical Genetics, Uppsala Children's Hospital, Sweden

    Peter Gustavsson

Authors
  1. Mats Nilsson
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  2. Katerina Krejci
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  3. Jørn Koch
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  4. Marek Kwiatkowski
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  5. Peter Gustavsson
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  6. Ulf Landegren
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Corresponding authors

Correspondence to Mats Nilsson or Ulf Landegren.

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Nilsson, M., Krejci, K., Koch, J. et al. Padlock probes reveal single-nucleotide differences, parent of origin and in situ distribution of centromeric sequences in human chromosomes 13 and 21. Nat Genet 16, 252–255 (1997). https://doi.org/10.1038/ng0797-252

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