Abstract
The integration of genetic and environmental factors that regulate the gene expression patterns associated with exercise adaptation is mediated by epigenetic mechanisms. The organisation of the human genome within three-dimensional space, known as chromosome conformation, has recently been shown as a dynamic epigenetic regulator of gene expression, facilitating the interaction of distal genomic regions due to tight and regulated packaging of chromosomes in the cell nucleus. Technological advances in the study of chromosome conformation mean a new class of biomarker—the chromosome conformation signature (CCS)—can identify chromosomal interactions across several genomic loci as a collective marker of an epigenomic state. Investigative use of CCSs in biological and medical research shows promise in identifying the likelihood that a disease state is present or absent, as well as an ability to prospectively stratify individuals according to their likely response to medical intervention. The association of CCSs with gene expression patterns suggests that there are likely to be CCSs that respond, or regulate the response, to exercise and related stimuli. The present review provides a contextual background to CCS research and a theoretical framework discussing the potential uses of this novel epigenomic biomarker within sport and exercise science and medicine.
Highlights
Discovering and quantifying the physiological response to external stimuli is a cornerstone of sport and exercise science [1]
The aims of this review are to summarise the importance and translation of the human genome to sport and exercise science, and to discuss the potential of a recently developed measure—the chromosome conformation signature (CCS)—to explore the dynamic nature of epigenetics in sport and exercise science
Help to ascertain whether CCSs are associated with changes in exercise-related phenotypes that occur following persistent stimuli, and how CCSs relate to altered gene expression profiles and epigenetic modifications that underpin these changes [71,72]
Summary
Discovering and quantifying the physiological response to external stimuli is a cornerstone of sport and exercise science [1]. Genomic differences exist between individuals that may explain the variance in skeletal muscle fibre type [8], aerobic capacity [6] and muscle strength [9], and there are several specific genotypes associated with the achievement of elite athlete status [7,10] Genetic approaches such as linkage analysis, candidate gene studies, genome-wide associated studies (GWAS) and whole exome or genome sequencing, while able to test the relationship between fixed genetic variability and quantifiable traits [11], are less able to account for and understand the role of the environment. The aims of this review are to summarise the importance and translation of the human genome to sport and exercise science, and to discuss the potential of a recently developed measure—the chromosome conformation signature (CCS)—to explore the dynamic nature of epigenetics in sport and exercise science
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