Genetics and Molecular Biology Branch, National Human Genome Research Institute, US National Institutes of Health, Bethesda, Maryland, USA.
Nat Genet. 2013 Oct;45(10):1104-5. doi: 10.1038/ng.2778.
The transcription factor PAX5 is required for normal B cell development and is frequently mutated or deleted in B cell precursor acute lymphoblastic leukemia (B-ALL). A new study demonstrates that germline hypomorphic mutations of PAX5 are associated with susceptibility to B-ALL, implicating PAX5 in a growing list of hematopoietic transcription factors mutated in familial leukemia predisposition syndromes.
转录因子 PAX5 是正常 B 细胞发育所必需的，并且在 B 细胞前体急性淋巴细胞白血病 (B-ALL) 中经常发生突变或缺失。一项新的研究表明，PAX5 的种系功能减弱突变与 B-ALL 的易感性相关，这意味着 PAX5 参与了越来越多的家族性白血病易感性综合征中发生突变的造血转录因子之列。
