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Article

Defective transcription of ATF3 responsive genes, a marker for Cockayne Syndrome.

Scientific reports - 24 Jan 2020

Epanchintsev Alexey, Rauschendorf Marc-Alexander, Costanzo Federico, Calmels Nadege, Obringer Cathy, Sarasin Alain, Coin Frederic, Laugel Vincent, Egly Jean-Marc

Abstract excerpt

Cockayne syndrome (CS) is a rare genetic disorder caused by mutations (dysfunction) in CSA and CSB. CS patients exhibit mild photosensitivity and severe neurological problems. Currently, CS diagnosis is based on the inefficiency of CS cells to recover RNA synthesis upon genotoxic (UV) stress. Indeed, upon genotoxic stress, ATF3, an immediate early gene is activated to repress up to 5000 genes encompassing its...

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Identifiers

PMID: 31980658
DOI: 10.1038/s41598-020-57999-4
PMCID: PMC6981198

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