白血病基因之谜的新线索

IF 7.7 1区生物学 Q1 CELL BIOLOGY

Genes & development Pub Date : 2025-08-12 DOI:10.1101/gad.353189.125

Xiaodi Wu, Ross L. Levine

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引用次数: 0

摘要

急性髓性白血病（AML）治疗结果的差异越来越大，需要特别关注该疾病在人群中的不同特征。在本期的《基因》杂志上；开发，Pawar和同事（doi:10.1101/gad.352602.125）现在揭示PHIP的突变，在黑人AML患者中更为普遍，破坏了染色质调节因子PHF6的功能。他们证实了后一种蛋白在结合染色质的开放和活跃区域时抑制基因转录，并表明在AML中观察到的PHF6错义突变导致功能丧失。这些见解促进了我们对疾病发病机制的理解，并可能为解决治疗中的种族差异提供信息。

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A new link in the leukemia genetic puzzle

Growing disparities in treatment outcomes for acute myeloid leukemia (AML) call for particular attention to features of the disease that vary among populations. In this issue of Genes & Development, Pawar and colleagues (doi:10.1101/gad.352602.125) now reveal that mutations in PHIP, more prevalent among Black patients with AML, disrupt the function of the chromatin regulator PHF6. They corroborate that the latter protein represses gene transcription upon binding open and active regions of chromatin and show that PHF6 missense mutations observed in AML result in loss of function. These insights advance our understanding of disease pathogenesis and may inform efforts to address racial disparities in treatment.

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来源期刊

Genes & development 生物-发育生物学

CiteScore

17.50

自引率

1.90%

发文量

审稿时长

3-6 weeks

期刊介绍： Genes & Development is a research journal published in association with The Genetics Society. It publishes high-quality research papers in the areas of molecular biology, molecular genetics, and related fields. The journal features various research formats including Research papers, short Research Communications, and Resource/Methodology papers. Genes & Development has gained recognition and is considered as one of the Top Five Research Journals in the field of Molecular Biology and Genetics. It has an impressive Impact Factor of 12.89. The journal is ranked #2 among Developmental Biology research journals, #5 in Genetics and Heredity, and is among the Top 20 in Cell Biology (according to ISI Journal Citation Reports®, 2021).