Affinity-optimizing variants within the ZRS enhancer disrupt limb development

Abstract excerpt

<h4>Summary</h4> An emerging regulatory principle governing enhancers is the use of suboptimal affinity binding sites to encode tissue-specific gene expression. Here we investigate if optimizing single-nucleotide variants that violate this principle can disrupt tissue-specific gene expression and development. The ZRS enhancer mediates expression of Shh in the posterior of the developing limb buds and is critical...

Topics

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• Extremities
• Gain of Function Mutation
• Hedgehog Proteins
• Interferon Regulatory Factors
• Penetrance
• Polydactyly
• Proto-Oncogene Proteins c-ets
• Transcription Factor AP-1

Identifiers and source

Literature Corpus work

38b139d5-b504-5f56-a128-4b4940af677d

DOI

10.1101/2022.05.27.493789