Evolutionary and clinical neocentromeres: two faces of the same coin?
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.
Capozzi
Oronzo
O
Department of Genetics and Microbiology, University of Bari, Bari, Italy.
Purgato
Stefania
S
Verdun di Cantogno
Ludovica
L
Grosso
Enrico
E
Ciccone
Roberto
R
Zuffardi
Orsetta
O
Della Valle
Giuliano
G
Rocchi
Mariano
M
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
D000906:Antibodies; D001324:Autoantigens; C000619700:CENPA protein, human; D000076247:Centromere Protein A; D002868:Chromosomal Proteins, Non-Histone