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Updated: Sep 24, 2025

Author Spotlight: Characterizing DNA Replication of Pathogenic Repeats to Uncover Mechanisms of Replication Fork Stalling and Expansion
05:22

Author Spotlight: Characterizing DNA Replication of Pathogenic Repeats to Uncover Mechanisms of Replication Fork Stalling and Expansion

Published on: September 13, 2024

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ヒトにおける再発性反転ポリモルフィズムは,遺伝的不安定性とゲノム障害と関連している

David Porubsky1, Wolfram Höps2, Hufsah Ashraf3

  • 1Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.

Cell
|May 7, 2022
PubMed
まとめ

729のヒトの逆転を特定しました 遺伝子の多様性はよくわかっていません 繰り返される逆転は,しばしばセグメンタル重複に近いもので,ゲノム障害と変異率の増加に寄与する.

キーワード:
L1 移動要素ゲノム障害ゲノムの不安定性ゲノム構造の変化人間の遺伝的変異逆転する病原性CNV繰り返し発生する変異リトロトランスポゾン

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