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Genes (Basel). 2019 Aug 20;10(8). pii: E627. doi: 10.3390/genes10080627.

Chromosomics: Bridging the Gap between Genomes and Chromosomes.

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Institute for Applied Ecology, University of Canberra, Canberra, ACT 2617, Australia.
Research School of Biology, Australian National University, Acton, ACT 2601, Australia.
Australian Museum Research Institute, Australian Museum, 1 William St Sydney, NSW 2010, Australia.
Institute for Systems Genomics and Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT 06269, USA.
Departament de Biologia Cel·lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Spain.
Genome Integrity and Instability Group, Institut de Biotecnologia i Biomedicina, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Spain.
Laboratório de Citogenética de Peixes, Departamento de Genética e Evolução, Universidade Federal de São Carlos, São Carlos, SP 13565-905, Brazil.
Graduate School of Pharmaceutical Sciences, Osaka University, Suita 565-0871, Osaka, Japan.
Institute for Applied Ecology, University of Canberra, Canberra, ACT 2617, Australia.
School of Life Sciences, LaTrobe University, Melbourne, VIC 3168, Australia.
School of Biosciences, University of Kent, Canterbury CT2 7NJ, UK.
School of Biological Sciences, The University of Adelaide, Adelaide, SA 5005, Australia.
Department of Ecology, Faculty of Science, Charles University, Viničná 7, 128 44 Prague 2, Czech Republic.
Amphibian Research Center, Hiroshima University, Higashi-Hiroshima 739-8526, Japan.
Laboratory of Animal Cytogenetics & Comparative Genomics (ACCG), Department of Genetics, Faculty of Science, Kasetsart University, Bangkok 10900, Thailand.
School of Natural Sciences, University of Tasmania, Hobart 7000, Australia.
Institute for Applied Ecology, University of Canberra, Canberra, ACT 2617, Australia.


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.


centromere; chromosome rearrangements; cytogenetics; evolution; genome biology; genome plasticity; sex chromosomes

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