Abstract

Recent investigations in this laboratory have lead to the formulation of the hypothesis that the mechanism of sister chromatid exchange formation does not involve breakage and rejoining of segments of chromosomes. According to the hypothesis, heterochromatin exists on the chromosome surface exclusively. Sister chromatid exchanges occur when this heterochromatin exists in an unstable state and sections are transposed or translocated between sister chromatids. In order to study this phenomenon further, cells from a high sister chromatid exchange frequency disorder, Bloom syndrome, were analyzed for the presence of unstable heterochromatin. In addition to confirming the presence of unstable heterochromatin, Bloom syndrome cells were often found to contain double minute chromosomes, and these were observed to form by accretion of unstable heterochromatin from the chromosome surface, possibly solving the enigma of their origin and formation.

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