Abstract
The recent advances in DNA sequencing technology are enabling a rapid increase in the number of genomes being sequenced. However, many fundamental questions in genome biology remain unanswered, because sequence data alone is unable to provide insight into how the genome is organised into chromosomes, the position and interaction of those chromosomes in the cell, and how chromosomes and their interactions with each other change in response to environmental stimuli or over time. The intimate relationship between DNA sequence and chromosome structure and function highlights the need to integrate genomic and cytogenetic data to more comprehensively understand the role genome architecture plays in genome plasticity. We propose adoption of the term ‘chromosomics’ as an approach encompassing genome sequencing, cytogenetics and cell biology, and present examples of where chromosomics has already led to novel discoveries, such as the sex-determining gene in eutherian mammals. More importantly, we look to the future and the questions that could be answered as we enter into the chromosomics revolution, such as the role of chromosome rearrangements in speciation and the role more rapidly evolving regions of the genome, like centromeres, play in genome plasticity. However, for chromosomics to reach its full potential, we need to address several challenges, particularly the training of a new generation of cytogeneticists, and the commitment to a closer union among the research areas of genomics, cytogenetics, cell biology and bioinformatics. Overcoming these challenges will lead to ground-breaking discoveries in understanding genome evolution and function.
Highlights
Advances in technology have made sequencing the entire genome of an organism essentially routine
Where a particular sequence is located on a chromosome and how it interacts with other parts of the genome are important aspects of genome biology often overlooked in genome sequencing projects
We propose a new framework for studying genome biology that integrates approaches in genome sequencing, cytogenetics and cell biology, as well as a renewed focus on training the generation of genome biologists in the skills required for the integration of these data
Summary
Advances in technology have made sequencing the entire genome of an organism essentially routine. The cytological aspects of cytogenetics are largely ignored by most modern cytogenetic studies As these respective fields have narrowed their focus, the result has been the development of technological and methodological advancements (examples in Table 1) that could allow us to more fully capture the dynamic nature and evolution of chromosomes from potentially any species to provide insight into fundamental biological questions. New sequence-based techniques for chromosome to fill in the details in our cytological picture of how active and inactive chromatin is assembled conformation capture promise to fill in the details in our cytological picture of how active and inactive and arranged into functional units in the interphase nucleus These advances afford the chromatin is assembled and arranged into functional units in the interphase nucleus. The discovery of the sex-determining gene SRY [34,35,36,37,38]
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