| Literature DB >> 11007490 |
G Floridia1, G Gimelli, O Zuffardi, W C Earnshaw, P E Warburton, C Tyler-Smith.
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.Entities:
Mesh:
Year: 2000 PMID: 11007490 DOI: 10.1007/s004120000081
Source DB: PubMed Journal: Chromosoma ISSN: 0009-5915 Impact factor: 4.316