Abstract
Intercellular karyotypic variability has been a focus of genetic research for more than 50 years. It has been repeatedly shown that chromosome heterogeneity manifesting as chromosomal mosaicism is associated with a variety of human diseases. Due to the ability of changing dynamically throughout the ontogeny, chromosomal mosaicism may mediate genome/chromosome instability and intercellular diversity in health and disease in a bottleneck fashion. However, the ubiquity of negligibly small populations of cells with abnormal karyotypes results in difficulties of the interpretation and detection, which may be nonetheless solved by post-genomic cytogenomic technologies. In the post-genomic era, it has become possible to uncover molecular and cellular pathways to genome/chromosome instability (chromosomal mosaicism or heterogeneity) using advanced whole-genome scanning technologies and bioinformatic tools. Furthermore, the opportunities to determine the effect of chromosomal abnormalities on the cellular phenotype seem to be useful for uncovering the intrinsic consequences of chromosomal mosaicism. Accordingly, a post-genomic review of chromosomal mosaicism in the ontogenetic and pathogenetic contexts appears to be required. Here, we review chromosomal mosaicism in its widest sense and discuss further directions of cyto(post)genomic research dedicated to chromosomal heterogeneity.
Highlights
The serendipitous establishment of the human karyotype by Tijo and Levan launched the era of cytogenetics in 1956
Further stages of prenatal development are characterized by a decrease in proportion of embryos affected by somatic chromosomal mosaicism (SCM)/chromosome instability (CIN) and/or non-mosaic chromosomal abnormalities, which seems to correlate with the formation of primary germ layers [16,22,23]
Regardless of of numerous numerous studies studies of of genome genome instability manifesting as SCM, the intrinsic incidence remains to be established
Summary
The serendipitous establishment of the human karyotype by Tijo and Levan launched the era of cytogenetics in 1956. SCM/CIN manifested as aneuploidy has global significance, which requires further analysis of molecular and cellular pathways to the generation and prevention of numerical and structural chromosome aberrations in somatic cells [12]. Considering the effects of aneuploidy on cellular homeostasis [14,15], it is not surprising that SCM and CIN manifesting as numerical chromosome abnormalities are involved in human prenatal mortality and/or natural cellular selection in human embryos and fetuses [5,7,12,13,15] These processes appear to mediate aging [7,10] and cancer [11] at the cellular level. We consider somatic genome variations at the chromosomal level involved in human aging
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