Cytogenetic analysis and construction of a BAC contig across a common neocentromeric region from 9p

Abstract.

Over 40 cases of neocentric marker chromosomes, without detectable α-satellite DNA, have been reported. Although these have originated from many different chromosomes, a few of these chromosomes have been involved in multiple cases of marker formation. In this study, two different markers originating from the short arm of chromosome 9 were analyzed, identifying a common neocentromeric region. A bacterial artificial chromosome (BAC) contig extending over more than 900 kb has been assembled across this neocentromeric region. Fluorescent in situ hybridization and immunofluorescence assays (CENP-C and CENP-E) have localized the neocentromere to a 500 kb region. Preliminary analysis of DNA sequences in this neocentromere revealed a highly AT-rich region, which also has an increase in the level of retroviral elements compared with the average levels in the genome.