Maraschio P, Zuffardi O, Caiulo A, Dainotti E, Piantanida M, Rivera H, Tupler R
Biologia Generale e Genetica Medica, Università di Pavia, Italy.
Hum Genet. 1990 Oct;85(5):491-4. doi: 10.1007/BF00194222.
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.
稳定的双着丝粒染色体表现得如同单着丝粒染色体,因为其中一个着丝粒是无活性的。着丝粒失活的原因尚不清楚;着丝粒染色质构象的改变和着丝粒DNA元件的丢失被认为是可能的机制。我们研究了两个Y着丝粒的失活现象,并将基因上相同的活性Y着丝粒作为对照。这两个病例具有以下核型:45,X/46,X,i(Y)(q12)和46,XY/47,XY,+t(X;Y)(p22.3;p11.3)。对经Da-Dapi染色、着丝粒蛋白(CREST)免疫荧光以及着丝粒探针原位杂交后活性和无活性Y染色体着丝粒行为的分析,使我们得出结论:在等臂染色体的情况下,着丝粒染色质的真正缺失是其稳定性的原因,而在第二个病例中,双着丝粒(X;Y)的稳定性是着丝粒染色质修饰的结果。