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Article

Mutational scanning of CRX classifies clinical variants and reveals biochemical properties of the transcriptional effector domain.

Genome research - 29 Oct 2024

Shepherdson James L, Granas David M, Li Jie, Shariff Zara, Plassmeyer Stephen P, Holehouse Alex S, White Michael A, Cohen Barak A

Abstract excerpt

The transcription factor (TF) cone-rod homeobox (CRX) is essential for the differentiation and maintenance of photoreceptor cell identity. Several human CRX variants cause degenerative retinopathies, but most are variants of uncertain significance. We performed a deep mutational scan (DMS) of nearly all possible single amino acid substitutions in CRX using a cell-based transcriptional reporter assay, curating a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39322280
DOI: 10.1101/gr.279415.124
PMCID: PMC11529990

Genes

CRX
TF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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Mutational scanning of CRX classifies clinical variants and reveals biochemical properties of the transcriptional effector domain.PMID 39322280Read ↗

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