RT Journal
A1 Ventura, Mario
A1 Weigl, Stefania
A1 Carbone, Lucia
A1 Cardone, Maria Francesca
A1 Misceo, Doriana
A1 Teti, Mariagrazia
A1 D'Addabbo, Pietro
A1 Wandall, Annelise
A1 Björck, Erik
A1 de Jong, Pieter J.
A1 She, Xinwei
A1 Eichler, Evan E.
A1 Archidiacono, Nicoletta
A1 Rocchi, Mariano
T1 Recurrent Sites for New Centromere Seeding
JF Genome Research 
JO Genome Research 
YR 2004 
FD September 01 
VO 14 
IS 9 
SP 1696 
OP 1703 
DO 10.1101/gr.2608804 
UL http://genome.cshlp.org/content/14/9/1696.abstract 
AB 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.