Variable number tandem repeats - Their emerging role in sickness and health

Marshall, Jack NG, Lopez, Ana Illera, Pfaff, Abigail L, Koks, Sulev ORCID: 0000-0001-6087-6643, Quinn, John P ORCID: 0000-0003-3551-7803 and Bubb, Vivien J ORCID: 0000-0003-2763-7004 (2021) Variable number tandem repeats - Their emerging role in sickness and health. EXPERIMENTAL BIOLOGY AND MEDICINE, 246 (12). pp. 1368-1376.

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Official URL: http://dx.doi.org/10.1177/15353702211003511

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-<i>Alu</i> 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.

Item Type:	Article
Uncontrolled Keywords:	VNTR, SVA, transcriptional regulation, neurological disease, physiology
Depositing User:	Symplectic Admin
Date Deposited:	10 Mar 2021 09:21
Last Modified:	15 Mar 2024 04:04
DOI:	10.1177/15353702211003511
Open Access URL:	https://journals.sagepub.com/doi/10.1177/153537022...
Related URLs:	Author Publisher
URI:	https://livrepository.liverpool.ac.uk/id/eprint/3116848