CHAMP1 premature termination codon mutations found in individuals with intellectual disability cause a homologous recombination defect through haploinsufficiency

CHAMP1 premature termination codon mutations found in individuals with intellectual disability cause a homologous recombination defect through haploinsufficiency

Abstract CHAMP1 (chromosome alignment-maintaining phosphoprotein 1) plays a role in the repair of DNA double-strand breaks (DSBs) by homologous recombination (HR). The CHAMP1 gene is one of the genes mutated in individuals with intellectual disability. The majority of the mutations are premature ter...

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Main Authors: Yujiro Yoshizaki, Yunosuke Ouchi, Dicky Kurniawan, Eisuke Yumoto, Yuki Yoneyama, Faiza Ramadhani Rizqullah, Hiyori Sato, Mirjam Hanako Sarholz, Toyoaki Natsume, Masato T. Kanemaki, Masanori Ikeda, Ayako Ui, Kenji Iemura, Kozo Tanaka
Format: Article
Language:English
Published: Nature Portfolio 2024-12-01
Series:Scientific Reports
Subjects:
CHAMP1
DNA double strand breaks
homologous recombination
intellectual disability
haploinsufficiency
camptothecin
Online Access:https://doi.org/10.1038/s41598-024-83435-y
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https://doi.org/10.1038/s41598-024-83435-y

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