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Genome Res. 14:1696-1703, 2004
©2004 by Cold Spring Harbor Laboratory Press; ISSN 1088-9051/04 $5.00
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Letter

Recurrent Sites for New Centromere Seeding

Mario Ventura1, Stefania Weigl1, Lucia Carbone1, Maria Francesca Cardone1, Doriana Misceo1, Mariagrazia Teti1, Pietro D'Addabbo1,2, Annelise Wandall3, Erik Björck4, Pieter J. de Jong5, Xinwei She6, Evan E. Eichler6, Nicoletta Archidiacono1 and Mariano Rocchi1,7

1 Sezione di Genetica-Dipartimento di Anatomia Patologica e Genetica, University of Bari, 70126 Bari, Italy 2 Center for Research into Molecular Genetics Fondazione Cassa di Risparmio di Bologna, Institute of Histology and General Embryology, University of Bologna, 40126 Bologna, Italy 3 Department of Medical Genetics, Panum Institute, 2200 Copenhagen, Denmark 4 Department of Molecular Medicine, Karolinska Institutet, 17176 Stockholm, Sweden 5 Children's Hospital Oakland Research Institute, Oakland, California 94609, USA 6 Department of Genetics, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106, USA

Using comparative FISH and genomics, we have studied and compared the evolution of chromosome 3 in primates and two human neocentromere cases on the long arm of this chromosome. Our results show that one of the human neocentromere cases maps to the same 3q26 chromosomal region where a new centromere emerged in a common ancestor of the Old World monkeys ~25-40 million years ago. Similarly, the locus in which a new centromere was seeded in the great apes' ancestor was orthologous to the site in which a new centromere emerged in the New World monkeys' ancestor. These data suggest the recurrent use of longstanding latent centromeres and that there is an inherent potential of these regions to form centromeres. The second human neocentromere case (3q24) revealed unprecedented features. The neocentromere emergence was not accompanied by any chromosomal rearrangement that usually triggers these events. Instead, it involved the functional inactivation of the normal centromere, and was present in an otherwise phenotypically normal individual who transmitted this unusual chromosome to the next generation. We propose that the formation of neocentromeres in humans and the emergence of new centromeres during the course of evolution share a common mechanism.


7 Corresponding author.
E-MAIL rocchi{at}biologia.uniba.it; FAX 39-080-544-3386.

[Supplemental material is available online at www.genome.org.]

Article and publication are at http://www.genome.org/cgi/doi/10.1101/gr.2608804.

8 Orthologous chromosomes can have a different chromosome number in different species because, in each species, they are ordered on the basis of chromosome size only. To avoid confusion, the human nomenclature will be used. The actual chromosome number in the different species is reported on top of each chromosome in Figure 1.


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