Chromosomal instability, characterized by numerical and structural chromosome changes, is common in solid cancers, but the causes for this molecular phenotype remain mostly unknown.
Whole and partial chromosome losses or gains and structural chromosome changes are hallmarks of human tumors.
Cells with numerical or structural chromosome changes usually stimulate cell cycle p53/p21WAF1/CIP1-dependent checkpoint arrest and/or subsequent apoptosis.
These historical experiments laid the foundations of flow cytogenetics and indicated its potential to characterize karyotypes, identify structural chromosome changes, and purify large quantities of chromosomes for biochemical and molecular analyses.
Production of chromosome painting probes revolutionized clinical and research cytogenetics and provided an instrument to study structural chromosome changes accompanying genome evolution in human and many lineages of animals.
These deletions are accompanied in a sub-set of cases by concomitant genome loss of regions within chromosomes 7 and 9, including the IKZF1 and CDKN2A genes, which appear to be associated with variety of structural chromosome changes - from cryptic interstitial deletions to unbalanced rearrangements resulting in short arm or whole chromosome loss.
All structural chromosome- and chromatid-type changes were recorded.
Xist coats the X chromosome from which it is expressed and initiates a cascade of events including exclusion of RNA polymerase II, changes in histone marks, and recruitment of structural chromosome proteins [ 1– 3].
Moreover, gene mutations and numerical/structural chromosome changes are relevant for carcinogenesis and the cytokinesis-block micronucleus assay has been shown to have a predictive value for cancer risk [ 48].
Recent progress in cancer genome analysis, aided by rapidly advancing DNA sequencing technology, has confirmed and elaborated earlier, lower resolution cytogenic observations that cancer cells acquire a variety of structural changes of chromosomes.
Desai, A., Chee, P. W., Rong, J., May, O. L. & Paterson, A. H. Chromosome structural changes in diploid and tetraploid A genomes of Gossypium.
