TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact

TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact

Abstract We investigated the role of TP53 splicing regulatory elements (SREs) using exons 3 and 6 and their downstream introns as models. Minigene microdeletion assays revealed four SRE-rich intervals: c.573_598, c.618_641, c.653_669 and c.672+14_672 + 36. A diagnostically reported deletion c.655_67...

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Main Authors: Daffodil M. Canson, Inés Llinares-Burguet, Cristina Fortuno, Lara Sanoguera-Miralles, Elena Bueno-Martínez, Miguel de la Hoya, Amanda B. Spurdle, Eladio A. Velasco-Sampedro
Format: Article
Language:English
Published: Nature Portfolio 2025-05-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-025-00498-0
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