The variant landscape and function of DDX3X in cancer and neurodevelopmental disorders

被引：20

作者：

Gadek, Margaret ^{[1
]}

Sherr, Elliott H. ^{[2
]}

Floor, Stephen N. ^{[3
]}

机构：

[1] Univ Calif San Francisco, Dept Cell & Tissue Biol, San Francisco, CA 94143 USA

[2] Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94143 USA

[3] Univ Calif San Francisco, Helen Diller Family Comprehens Canc Ctr, San Francisco, CA 94143 USA

来源：

TRENDS IN MOLECULAR MEDICINE | 2023年 / 29卷 / 09期

基金：

美国国家卫生研究院;

关键词：

BOX RNA HELICASE; INTELLECTUAL DISABILITY; BURKITT-LYMPHOMA; MESSENGER-RNAS; CELL LYMPHOMA; COMMON-CAUSE; MUTATIONS; PROTEIN; MEDULLOBLASTOMA; TARGET;

D O I：

10.1016/j.molmed.2023.06.003

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

RNA molecules rely on proteins across their life cycle. DDX3X encodes an X linked DEAD-box RNA helicase with a Y-linked paralog, DDX3Y. DDX3X is central to the RNA life cycle and is implicated in many conditions, including cancer and the neurodevelopmental disorder DDX3X syndrome. DDX3X-linked conditions often exhibit sex differences, possibly due to differences between expression or function of the X-and Y-linked paralogs DDX3X and DDX3Y. DDX3X-related diseases have different mutational landscapes, indicating different roles of DDX3X. Understanding the role of DDX3X in normal and disease states will inform the understanding of DDX3X in disease. We review the function of DDX3X and DDX3Y, discuss how mutation type and sex bias contribute to human diseases involving DDX3X, and review possible DDX3X-targeting treatments.

引用

页码：726 / 739

页数：14

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