Non‐coding regulatory elements: Potential roles in disease and the case of epilepsy

Abstract

Non‐coding DNA (ncDNA) refers to the portion of the genome that does not code for proteins and accounts for the greatest physical proportion of the human genome. ncDNA includes sequences that are transcribed into RNA molecules, such as ribosomal RNAs (rRNAs), microRNAs (miRNAs), long non‐coding RNAs (lncRNAs) and un‐transcribed sequences that have regulatory functions, including gene promoters and enhancers. Variation in non‐coding regions of the genome have an established role in human disease, with growing evidence from many areas, including several cancers, Parkinson's disease and autism. Here, we review the features and functions of the regulatory elements that are present in the non‐coding genome and the role that these regions have in human disease. We then review the existing research in epilepsy and emphasise the potential value of further exploring non‐coding regulatory elements in epilepsy. In addition, we outline the most widely used techniques for recognising regulatory elements throughout the genome, current methodologies for investigating variation and the main challenges associated with research in the field of non‐coding DNA.

The sphingolipid anteome: implications for evolution of the sphingolipid metabolic pathway

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Oncogenomic Changes in Pancreatic Cancer and Their Detection in Stool

“…Over the past two decades, it has become increasingly apparent that in addition to mutations and epigenetic mechanisms interfering with driver genes, alterations in non-coding DNA (ncDNA) are also an important factor in cancer development, progression, and drug resistance [ 53 ]. NcDNA is transcribed into various forms of non-coding RNAs (ncRNAs), such as small interfering RNA (siRNA), micro-RNA (miRNA), and long non-coding RNA (lncRNA), many of which play important roles in gene regulation [ 54 ]. In cancer, ncDNA can be affected by mutations, copy number alterations and epigenetic mechanisms.…”

Regional random mutagenesis driven by multiple sgRNAs and diverse on-target genome editing events to identify functionally important elements in non-coding regions

“…While it is the protein products that directly drive biological phenomena, functional elements that regulate their expression patterns are also of considerable importance. Cis- regulatory elements, such as promoters and enhancers, and non-coding transcripts, such as microRNAs (miRNAs), modulate gene expression at the pre- and post-transcriptional levels, respectively [ 9 ]. Reporter assays are usually performed to assess the regulatory capacity of such non-coding sequences [ 10 , 11 ].…”