期刊
COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL
卷 18, 期 -, 页码 2033-2042出版社
ELSEVIER
DOI: 10.1016/j.csbj.2020.07.013
关键词
Histone demethylation; Kabuki Syndrome; KDM6A; Molecular dynamics simulation; Computational biology
资金
- NVIDIA Corporation
- Amber Team
- 5x1000voluntary contribution
Mutations in genes encoding for histone methylation proteins are associated with several developmental disorders. Among them, KDM6A is the disease causative gene of type 2 Kabuki Syndrome, a rare multisystem disease. While nonsense mutations and short insertions/deletions are known to trigger pathogenic mechanisms, the functional effects of missense mutations are still uncharacterized. In this study, we demonstrate that a selected set of missense mutations significantly hamper the interaction between KDM6A and the histone H3, by modifying the dynamics of the linker domain, and then causing a loss of function effect. (C) 2020 The Author(s). Published by Elsevier B.V. on behalf of Research Network of Computational and Structural Biotechnology.
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