Homozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant

Homozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant

Abstract DNA polymerase eta (Polη) is the only translesion synthesis polymerase capable of error-free bypass of UV-induced cyclobutane pyrimidine dimers. A deficiency in Polη function is associated with the human disease Xeroderma pigmentosum variant (XPV). We hereby report the case of a 60-year-old...

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Bibliographic Details
Main Authors: Roberto Ricciardiello, Giulia Forleo, Lina Cipolla, Geraldine van Winckel, Caterina Marconi, Thierry Nouspikel, Thanos D. Halazonetis, Omar Zgheib, Simone Sabbioneda
Format: Article
Language:English
Published: Nature Portfolio 2024-01-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-023-51120-1

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https://doi.org/10.1038/s41598-023-51120-1

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