摘要
植物同源域指蛋白6(PHF6),一种高度保守的表观遗传转录调节因子,最初在X连锁神经发育障碍Börjeson-Forssman-Lehmann综合征(BFLS)中发现。PHF6的表达几乎存在于所有组织中,在大脑、发育中的中枢神经系统以及所有造血亚群中高表达。P H F6突变见于多种血液系统疾病,较多见于T淋巴细胞白血病,而在急性髓系白血病和其他髓系肿瘤中较少见。PHF6在正常造血系统中的确切作用以及突变的PHF6对血液系统恶性肿瘤发展的作用尚未完全阐明。本文主要就PHF6基因的特点、功能及其突变在血液系统恶性肿瘤发生发展的关系进行综述。
Plant homologous domain refers to protein 6(PHF6),a highly conserved epigenetic transcriptional regulator,originally identified in X-linked neurodevelopmental disorder Börjeson-Forssman-Lehmann syndrome(BFLS).PHF6 expression is present in almost all tissues and is highly expressed in the brain,the developing central nervous system,and all hematopoietic subsets.PHF6 mutations are seen in a variety of hematologic disorders,more common in T-lymphocytic leukemia and less common in acute myeloid leukemia and other myeloid tumors.The exact role of PHF6 in the normal hematopoietic system and the role of mutated PHF6 in the development of hematologic malignancies have not been fully elucidated.This article mainly reviews the characteristics and functions of PHF6 gene and the relationship between mutations in the occurrence and development of hematologic malignancies.
作者
谢莹
孙洁
XIE Ying;SUN Jie(School of Medicine,Zhejiang University,Hangzhou,Zhejiang 310058,China;Bone Marrow Transplantation Center,Department of Hematology,The First Affiliated Hospital of Zhejiang University School of Medicine,Hangzhou,Zhejiang 310003,China)
出处
《医药前沿》
2022年第32期63-66,共4页
Journal of Frontiers of Medicine
