title: Evolutionary and clinical neocentromeres: two faces of the same coin?
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.
authors.affiliation: Department of Genetics and Microbiology, University of Bari, Bari, Italy.
authors.forename: Oronzo
authors.initials: O
authors.lastname: Capozzi
authors.forename: Stefania
authors.initials: S
authors.lastname: Purgato
authors.forename: Ludovica
authors.initials: L
authors.lastname: Verdun di Cantogno
authors.forename: Enrico
authors.initials: E
authors.lastname: Grosso
authors.forename: Roberto
authors.initials: R
authors.lastname: Ciccone
authors.forename: Orsetta
authors.initials: O
authors.lastname: Zuffardi
authors.forename: Giuliano
authors.initials: G
authors.lastname: Della Valle
authors.forename: Mariano
authors.initials: M
authors.lastname: Rocchi
mesh_terms: D000906:Antibodies / Q000276:immunology; D001324:Autoantigens / Q000276:immunology; D002503:Centromere / Q000235:genetics / Q000473:pathology*; D000076247:Centromere Protein A; D002648:Child; D047369:Chromatin Immunoprecipitation; D002868:Chromosomal Proteins, Non-Histone / Q000276:immunology; D025063:Chromosome Disorders / Q000235:genetics* / Q000473:pathology; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D019143:Evolution, Molecular; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D046228:Microarray Analysis; D012303:Ring Chromosomes
chemical_list: D000906:Antibodies; D001324:Autoantigens; C000619700:CENPA protein, human; D000076247:Centromere Protein A; D002868:Chromosomal Proteins, Non-Histone