Pulse Brain · Growing Health Evidence Index
Tier 4 — Narrative / commentaryPeer-reviewed

Structural variation in the 3D genome

Malte Spielmann, Darío G. Lupiáñez, Stefan Mundlos

Nature Reviews Genetics · 2018

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Summary

This 2018 Nature Reviews Genetics paper synthesises current understanding of structural variation in three-dimensional genome organisation and its functional consequences. The review examines how large-scale chromatin rearrangements, topologically associating domains (TADs), and other structural features regulate gene expression and contribute to disease phenotypes. As suggested by the journal scope and publication date, the paper likely represents a comprehensive assessment of emerging research on 3D genome architecture and its relevance to human genetics.

Regional applicability

This is a fundamental genetics review with limited direct applicability to UK farming systems or agricultural policy. Any relevance would be indirect—through potential future applications in crop or livestock genomics if UK agricultural research programmes adopt 3D genome-informed breeding strategies.

Key measures

Structural variants in 3D genome; chromatin topology; regulatory mechanisms; disease associations

Outcomes reported

The paper reviews evidence on structural variation in three-dimensional genome organisation and its role in gene regulation. It synthesises findings on how 3D chromatin architecture influences genetic function and disease aetiology.

Theme
General food systems / other
Subject
Other / interdisciplinary
Study type
Narrative Review
Study design
Narrative review
Source type
Peer-reviewed study
Status
Published
System type
Laboratory / in vitro
DOI
10.1038/s41576-018-0007-0
Catalogue ID
SNmoj7nrfr-imryh0

Topic tags

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