Chromosomal Heterogeneity and Human Diseases
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: closed (31 October 2018) | Viewed by 47403
Special Issue Editor
Interests: cancer evolution; chromosomal coding; karyotype mediated-drug resistance; fuzzy inheritance; genome instability and chaos; genome theory; mechanism of heterogeneity; system inheritance
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Special Issue Information
Dear Colleagues,
While there is increased awareness that genomic heterogeneity plays a key role in human disease, current research efforts are focusing more on gene-level profiling. Recent sequencing results, however, have revealed unexpected findings: 1) Chromosomal aberrations including chaotic genomes are overwhelmingly detected in cancer (revealed by circus plots) and 2) data associated with chromosomal aberrations rather than specific genes can provide better clinical predictions. Another equally important realization redefines chromosomes as not just vehicles of genes, but as genomic information organizers. It provides the physical and topological platform for genes to interact upon. Such novel genomic information codes the network structure and is the true blueprint; thus, the karyotype represents “system inheritance” while the gene represents “parts inheritance.” Logically, profiling chromosomal heterogeneity in disease should become a priority.
To understand how chromosomal heterogeneity contributes to diseases, further characterization of different types of chromosomal aberrations and their implications for diseases are required (from clonal chromosomal aberrations to non-clonal chromosome aberrations). Furthermore, additional examples are needed to illustrate how to integrate gene data within the context of karyotype changes (correlation between copy number variation, chromosome conformation capture (3C) data and karyotypic variation), and the relationship among different types of chromosomal aberrations (polyploidy vs. aneuploidy, aneuploidy vs. structural changes, and chaotic chromosomes vs. a simple translocation). Finally, new methods are necessary to apply chromosomal aberrations (types and frequencies, including chromosomal mosaicism) to measure genome instability and its implications for disease diagnosis and treatment management. The goal of this Special Issue is to promote the aforementioned studies.
Prof. Dr. Henry H. Heng
Guest Editor
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Keywords
- aneuploidy
- chromosome conformation capture
- chromosomal heterogeneity
- chromosome instability (CIN)
- chromothripsis, Clonal chromosome aberration (CCA)
- genome chaos, karyotype chaos, mosaicism, non-clonal chromosome aberration (NCCA), polyploidy
- system inheritance
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