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Updated: Jul 5, 2025

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Published on: April 26, 2018

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聚合酶中的proline对threonine191的同位素替代 η会导致Xeroderma pigmentosum的变种

Roberto Ricciardiello1,2, Giulia Forleo1, Lina Cipolla1

  • 1Istituto di Genetica Molecolare "Luigi Luca Cavalli-Sforza", CNR, Pavia, Italy.

Scientific reports
|January 11, 2024
PubMed
概括

缺少DNA聚合酶eta (Polη) 会导致Xeroderma pigmentosum变种 (XPV). 这项研究确定了一种特定的Polη变体 (Thr191Pro),通过损害DNA修复,导致紫外线敏感性和疾病.

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