title: A neocentromere in the DAZ region of the human Y chromosome.
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.
authors.affiliation: Department of Biochemistry, University of Oxford, UK.
authors.forename: G
authors.initials: G
authors.lastname: Floridia
authors.forename: G
authors.initials: G
authors.lastname: Gimelli
authors.forename: O
authors.initials: O
authors.lastname: Zuffardi
authors.forename: W C
authors.initials: WC
authors.lastname: Earnshaw
authors.forename: P E
authors.initials: PE
authors.lastname: Warburton
authors.forename: C
authors.initials: C
authors.lastname: Tyler-Smith
mesh_terms: D000328:Adult; D002503:Centromere; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D019457:Chromosome Breakage; D004624:Embryo Transfer; D005260:Female; D005307:Fertilization in Vitro; D005313:Fetal Death / Q000235:genetics; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000235:genetics; D008297:Male; D010920:Placenta / Q000166:cytology; D011247:Pregnancy; D000091402:Prohibitins; D011995:Recombination, Genetic; D015183:Restriction Mapping; D014998:Y Chromosome