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A neocentromere in the DAZ region of the human Y chromosome

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Abstract

We describe a novel rearranged human Y chromosome consisting of an inverted duplication of the long arm heterochromatin and a small amount of euchromatin: rea(Y)(qter–q11.2::q11.2–qter). The normal centromere has been deleted and a neocentromere containing CENP-A, -C, -E and Mad2 but not CENP-B has formed close to the breakpoint. A 2.7 Mb yeast artificial chromosome contig spanning the breakpoint was constructed and the breakpoint was localised to a region of <120 kb close to the DAZ gene cluster. Combined immunofluorescence and fluorescence in situ hybridisation showed that the centromeric protein-binding domain of the neocentromere was located near the breakpoint and within the DAZ cluster.

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Author notes

  1. Giovanna Floridia

    Present address: Lab. di Ultrastrutture, Istituto Superiore di Sanitá, Viale Regina Elena 299, 00161, Rome, Italy

  2. Peter E. Warburton

    Present address: Dept. of Human Genetics, Mount Sinai School of Medicine, New York, NY, 10029, USA

Authors and Affiliations

  1. CRC Chromosome Molecular Biology Group, Department of Biochemistry, University of Oxford, South Parks Road, Oxford, OX1 3QU, UK

    Giovanna Floridia & Chris Tyler-Smith

  2. Laboratorio di Citogenetica, Istituto G. Gaslini, Largo G. Gaslini 5, 16148, Genoa, Italy

    Giorgio Gimelli

  3. Biologia e Genetica Medica, Via Forlanini 14, 27100, Pavia, Italy

    Orsetta Zuffardi

  4. Institute of Cell and Molecular Biology, Michael Swann Building, King's Buildings, University of Edinburgh, Mayfield Road, Edinburgh, EH9 3JR, UK

    William C. Earnshaw & Peter E. Warburton

Authors
  1. Giovanna Floridia
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  2. Giorgio Gimelli
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  3. Orsetta Zuffardi
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  4. William C. Earnshaw
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  5. Peter E. Warburton
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  6. Chris Tyler-Smith
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Corresponding author

Correspondence to Chris Tyler-Smith.

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Floridia, G., Gimelli, G., Zuffardi, O. et al. A neocentromere in the DAZ region of the human Y chromosome. Chromosoma 109, 318–327 (2000). https://doi.org/10.1007/s004120000081

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  • DOI: https://doi.org/10.1007/s004120000081

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