Abstract
It has been hypothesized that human clinical neocentromeres and evolutionary novel centromeres (ENC) represent two faces of the same phenomenon. However, there are only two reports of loci harboring both a novel centromere and a clinical neocentromere. We suggest that only the tip of the iceberg has been scratched because most neocentromerization events have a very low chance of being observed. In support of this view, we report here on a neocentromere at 9q33.1 that emerged in a ring chromosome of about 12 Mb. The ring was produced by a balanced rearrangement that was fortuitously discovered because of its malsegregation in the propositus. Chromatin-immunoprecipitation-on-chip experiments using anti-centromere protein (CENP)-A and anti-CENP-C antibodies strongly indicated that a novel centromeric domain was present in the ring, in a chromosomal domain where an ENC emerged in the ancestor to Old World monkeys.
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Acknowledgements
This work was supported by PRIN 2006, PRIN 2005 (to O.Z.), FIRB 2004, and Fondazione Mariani and Fondazione Cassa di Risparmio delle Provincie Lombarde. We thank the family for cooperation. We would like to thank M. Zoli for technical advice and S. Trazzi for anti-CENP-A and anti-CENP-C sera. S. P. was supported by a fellowship from European Union—Programma Regionale per la Ricerca Industriale and L’Innovazione e Il Trasferimento Tecnologico of the Emilia Romagna Region.
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Capozzi, O., Purgato, S., Verdun di Cantogno, L. et al. Evolutionary and clinical neocentromeres: two faces of the same coin?. Chromosoma 117, 339–344 (2008). https://doi.org/10.1007/s00412-008-0150-z
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DOI: https://doi.org/10.1007/s00412-008-0150-z