Journal article
Variable number tandem repeats – Their emerging role in sickness and health
Experimental Biology and Medicine, Vol.246(12), pp.1368-1376
2021
Abstract
Understanding the mechanisms regulating tissue specific and stimulus inducible regulation is at the heart of understanding human biology and how this translates to wellbeing, the ageing process, and disease progression. Polymorphic DNA variation is superimposed as an extra layer of complexity in such processes which underpin our individuality and are the focus of personalized medicine. This review focuses on the role and action of repetitive DNA, specifically variable number tandem repeats and SINE-VNTR-Alu domains, highlighting their role in modification of gene structure and gene expression in addition to their polymorphic nature being a genetic modifier of disease risk and progression. Although the literature focuses on their role in disease, it illustrates their potential to be major contributors to normal physiological function. To date, these elements have been under-reported in genomic analysis due to the difficulties in their characterization with short read DNA sequencing methods. However, recent advances in long read sequencing methods should resolve these problems allowing for a greater understanding of their contribution to a host of genomic and functional mechanisms underlying physiology and disease.
Details
- Title
- Variable number tandem repeats – Their emerging role in sickness and health
- Authors/Creators
- J.N. Marshall (Author/Creator) - University of LiverpoolA.I. Lopez (Author/Creator) - University of LiverpoolA.L. Pfaff (Author/Creator) - Murdoch UniversityS. Kõks (Author/Creator) - Murdoch UniversityJ.P. Quinn (Author/Creator) - University of LiverpoolV.J. Bubb (Author/Creator) - University of Liverpool
- Publication Details
- Experimental Biology and Medicine, Vol.246(12), pp.1368-1376
- Publisher
- SAGE Publications
- Identifiers
- 991005542932307891
- Copyright
- © 2021 by The Society for Experimental Biology and Medicine
- Murdoch Affiliation
- Centre for Molecular Medicine and Innovative Therapeutics
- Language
- English
- Resource Type
- Journal article
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- Collaboration types
- Domestic collaboration
- International collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.21 Psychiatry
- 1.21.1519 Neurotransmitter Gene Variants
- Web Of Science research areas
- Medicine, Research & Experimental
- ESI research areas
- Clinical Medicine