A neocentromere in the DAZ region of the human Y chromosome |
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Authors: | Giovanna Floridia Giorgio Gimelli Orsetta Zuffardi William C Earnshaw Peter E Warburton Chris Tyler-Smith |
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Institution: | Department of Biochemistry, University of Oxford, UK. |
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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. |
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