Germline PAX5 mutations and B cell leukemia.
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.
Genetics and Molecular Biology Branch, National Human Genome Research Institute, US National Institutes of Health, Bethesda, Maryland, USA.
R Katherine
RK
Hyde
P Paul
PP
Liu
D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D051757:PAX5 Transcription Factor / Q000235:genetics*; D015452:Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*
D051757:PAX5 Transcription Factor; C497281:PAX5 protein, human