Impact of Genetic Variation in Gene Regulatory Sequences: A Population Genomics Perspective

Joshi, Manas; Kapopoulou, Adamantia; Laurent, Stefan (2021). Impact of Genetic Variation in Gene Regulatory Sequences: A Population Genomics Perspective. Frontiers in genetics, 12(660899), p. 660899. Frontiers Media SA 10.3389/fgene.2021.660899

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The unprecedented rise of high-throughput sequencing and assay technologies has provided a detailed insight into the non-coding sequences and their potential role as gene expression regulators. These regulatory non-coding sequences are also referred to as cis-regulatory elements (CREs). Genetic variants occurring within CREs have been shown to be associated with altered gene expression and phenotypic changes. Such variants are known to occur spontaneously and ultimately get fixed, due to selection and genetic drift, in natural populations and, in some cases, pave the way for speciation. Hence, the study of genetic variation at CREs has improved our overall understanding of the processes of local adaptation and evolution. Recent advances in high-throughput sequencing and better annotations of CREs have enabled the evaluation of the impact of such variation on gene expression, phenotypic alteration and fitness. Here, we review recent research on the evolution of CREs and concentrate on studies that have investigated genetic variation occurring in these regulatory sequences within the context of population genetics.

Item Type:

Journal Article (Review Article)

Division/Institute:

08 Faculty of Science > Department of Biology > Institute of Ecology and Evolution (IEE)
08 Faculty of Science > Department of Biology > Institute of Ecology and Evolution (IEE) > Population Genetics

UniBE Contributor:

Kapopoulou, Adamantia

Subjects:

500 Science > 570 Life sciences; biology

ISSN:

1664-8021

Publisher:

Frontiers Media SA

Language:

English

Submitter:

Susanne Holenstein

Date Deposited:

12 Nov 2021 15:37

Last Modified:

23 Dec 2022 09:38

Publisher DOI:

10.3389/fgene.2021.660899

PubMed ID:

34276769

BORIS DOI:

10.48350/160441

URI:

https://boris.unibe.ch/id/eprint/160441

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