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Article

Affinity-optimizing enhancer variants disrupt development.

Nature - 1 Feb 2024

Lim Fabian, Solvason Joe J, Ryan Genevieve E, Le Sophia H, Jindal Granton A, Steffen Paige, Jandu Simran K, Farley Emma K

Abstract excerpt

Enhancers control the location and timing of gene expression and contain the majority of variants associated with disease1-3. The ZRS is arguably the most well-studied vertebrate enhancer and mediates the expression of Shh in the developing limb4. Thirty-one human single-nucleotide variants (SNVs) within the ZRS are associated with polydactyly4-6. However, how this enhancer encodes tissue-specific activity, and...

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Identifiers

PMID: 38233525
DOI: 10.1038/s41586-023-06922-8
PMCID: PMC10830414

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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