Research Topic

Chromosome Biology as a Key to Understand Disease Mechanisms, Genome Architecture and Evolution

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Genetic inheritance relies on the proper organization of chromosomes and the genome. Structural and numerical chromosomal aberrations are associated with acquired and constitutional human disorders as changes within the genomic architecture that can impact development and disease pathogenesis. Whilst the ...

Genetic inheritance relies on the proper organization of chromosomes and the genome. Structural and numerical chromosomal aberrations are associated with acquired and constitutional human disorders as changes within the genomic architecture that can impact development and disease pathogenesis. Whilst the genome not only consists of the linear composition of DNA, including coding, non-coding and repetitive sequences, the organization of these elements within the genome and how DNA is packed into chromosomes is crucial to maintain a proper genome organization across the nuclear space and time. In addition, genomic alterations also contribute to variations within the population and the speciation process.
Today, many different approaches are available to help understand chromosome and chromatin biology in the context of genome architecture. State-of-the-art technical developments are high and super resolution microscopy, single cell in vivo techniques, methods that can resolve chromatin interactions, such as chromatin conformation capture (3C) approaches and their next generation sequencing methods, as well as chromosomal microarrays as a routine diagnostic tool. Considering advantages, pitfalls, and limitations of the mentioned techniques, chromosome biology can be integrated into personalized medicine. This links basic research with routine diagnostics of genomic diseases and vice versa. Accordingly, clinical genetics also provides huge amounts of data and metadata that can be used in accessible databases to better understand the molecular pathogenesis of disease. To accomplish this aim, integrated genomic data can provide a more comprehensive picture on the fundamental aspects of molecular disease mechanisms in respect to the higher order genome architecture and genome evolution. Collectively, the three-dimensional organization of DNA into chromosomes is directly relevant for gene expression in health and in disease and serves as an additional layer of genomic information.

The aim of this Research Topic is to bring together state-of-the-art methodological approaches and applications, basic research on chromosomal structure, nuclear architecture, and organization, as well as manuscripts with ideas on future directions of chromosome and chromatin biology as Original Research articles, Case Reports, Hypothesis, and new Methods papers. The general scope includes two subparts:
1) Integrative aspects of structure, function, and evolution of the genome for a better understanding of chromosome biology.
2) Towards clinical applications of new technical developments in chromosome biology.
The Research Topic will cover the following areas in particular:
• Evolutionary (human, mammals) conservation, flexibility, and adaption in different levels of genome organization (e.g. linear, 3D, 4D).
• Normal and impaired chromosome behavior, due to chromosomal alterations with respect to each other and during development (e.g. “chromosome kissing”).
• Mechanisms of DNA repair to keep genome integrity intergenerational but also flexible for adaptive evolutionary changes.
• Discovery and characterization of fragile sites in different tissues.
• In vivo / real-time studies on repair of induced chromosome breaks.
• Chromosomal organization and information during cell division (e.g. epigenetic information safely passed on to next generation).
• Historical, current and novel technical developments to study chromosomes and the genome.
• How to uncover somatic mosaicism?
• Contributions of diagnostics to resolve questions of fundamental chromosome biology (e.g. chromothripsis, recurrent rearrangements, breakpoint reuse).
• Case reports on rare nuclear reorganization, chromosomal rearrangements, and copy number variations.
• Outlook, hypotheses, and opinions on the future direction of chromosome biology in the age of molecular genetics.

This topic has been realized, and is in collaboration with Dr Constanze Pentzold , Post Doctoral Researcher at the Institute of Human Genetics, University Hospital Jena.


Keywords: Genome architecture, Long range chromatin interaction, Chromosome (in)stability including fragile sites, Chromosome evolution, (re)Implementation of chromosomes in diagnostics


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

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