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.
journal_name
Chromosomajournal_title
Chromosomaauthors
Floridia G,Gimelli G,Zuffardi O,Earnshaw WC,Warburton PE,Tyler-Smith Cdoi
10.1007/s004120000081subject
Has Abstractpub_date
2000-01-01 00:00:00pages
318-27issue
5eissn
0009-5915issn
1432-0886journal_volume
109pub_type
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