Abstract
We describe a novel rearranged human Y chromosome consisting of an inverted duplication of the long arm heterochromatin and a small amount of euchromatin: rea(Y)(qter–q11.2::q11.2–qter). The normal centromere has been deleted and a neocentromere containing CENP-A, -C, -E and Mad2 but not CENP-B has formed close to the breakpoint. A 2.7 Mb yeast artificial chromosome contig spanning the breakpoint was constructed and the breakpoint was localised to a region of <120 kb close to the DAZ gene cluster. Combined immunofluorescence and fluorescence in situ hybridisation showed that the centromeric protein-binding domain of the neocentromere was located near the breakpoint and within the DAZ cluster.
Similar content being viewed by others
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Floridia, G., Gimelli, G., Zuffardi, O. et al. A neocentromere in the DAZ region of the human Y chromosome. Chromosoma 109, 318–327 (2000). https://doi.org/10.1007/s004120000081
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s004120000081