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Case Reports
. 1990 Oct;85(5):491-4.
doi: 10.1007/BF00194222.

Deletion of specific sequences or modification of centromeric chromatin are responsible for Y chromosome centromere inactivation

P Maraschio  1 , O Zuffardi, A Caiulo, E Dainotti, M Piantanida, H Rivera, R Tupler
Affiliations
Case Reports

Deletion of specific sequences or modification of centromeric chromatin are responsible for Y chromosome centromere inactivation

P Maraschio et al. Hum Genet. 1990 Oct.

Abstract

Stable dicentric chromosomes behave as monocentrics because one of the centromeres is inactive. The cause of centromere inactivation is unknown; changes in centromere chromatin conformation and loss of centromeric DNA elements have been proposed as possible mechanisms. We studied the phenomenon of inactivation in two Y centromeres, having as a control genetically identical active Y centromeres. The two cases have the following karyotypes: 45, X/46,X,i(Y)(q12) and 46,XY/47,XY,+t(X;Y) (p22.3;p11.3). The analysis of the behavior of the active and inactive Y chromosome centromeres after Da-Dapi staining, CREST immunofluorescence, and in situ hybridization with centromeric probes leads us to conclude that, in the case of the isochromosome, a true deletion of centromeric chromatin is responsible for its stability, whereas in the second case, stability for its stability, whereas in the second case, stability of the dicentric (X;Y) is the result of centromere chromatin modification.

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