期刊
BIOCHIMICA ET BIOPHYSICA ACTA-GENE REGULATORY MECHANISMS
卷 1865, 期 5, 页码 -出版社
ELSEVIER
DOI: 10.1016/j.bbagrm.2022.194848
关键词
Epigenetics; Histone modifying enzymes; KDM5B; Developmental disorders
资金
- Wessex Medical Research and Rosetrees Trust studentship [PHD-2021/AB01]
Histone modifying enzymes, especially KDM5B, play a critical role in development and developmental disorders. Understanding the mechanism of KDM5B can provide insights into development and developmental disorders.
Histone modifying enzymes are involved in the posttranslational modification of histones and the epigenetic control of gene expression. They play a critical role in normal development, and there is increasing evidence of their role in developmental disorders (DDs). DDs are a group of chronic, severe conditions that impact the physical, intellectual, language and/or behavioral development of an individual. There are very few treatment options available for DDs such that these are conditions with significant unmet clinical need. Recessive variants in the gene encoding histone modifying enzyme KDM5B are associated with a DD characterized by develop-mental delay, facial dysmorphism and camptodactyly. KDM5B is responsible for the demethylation of lysine 4 on the amino tail of histone 3 and plays a vital role in normal development and regulating cell differentiation. This review explores the literature on KDM5B and what is currently known about its roles in development and developmental disorders.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据