title: Expression and production of aberrant PAX5 with deletion of exon 8 in B-lineage acute lymphoblastic leukaemia of children.
abstract: Summary We investigated PAX5 expression in childhood B-lineage acute lymphoblastic leukaemia (ALL). Seven of 21 children with B-lineage ALL had multiple PAX5 variants, while 14 children and healthy controls showed full-length (FL) and one variant PAX5. By Western blotting, healthy controls displayed Pax5-FL, while one short Pax5, derived from the deletion of exon 8 (Pax5-DeltaE8) was produced in 90% of ALL samples, as well as in ALL cell lines. PAX5-DeltaE8 lacked more than 50% of the transactivation domain, indicating that aberrant Pax5 production might lead to the arrest of B-cell differentiation, contributing to the pathogenesis of B-lineage ALL.
authors.affiliation: Department of Paediatrics, Saga University, Saga, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Sadakane
authors.forename: M
authors.initials: M
authors.lastname: Zaitsu
authors.forename: M
authors.initials: M
authors.lastname: Nishi
authors.forename: K
authors.initials: K
authors.lastname: Sugita
authors.forename: S
authors.initials: S
authors.lastname: Mizutani
authors.forename: A
authors.initials: A
authors.lastname: Matsuzaki
authors.forename: E
authors.initials: E
authors.lastname: Sueoka
authors.forename: Y
authors.initials: Y
authors.lastname: Hamasaki
authors.forename: E
authors.initials: E
authors.lastname: Ishii
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000032:analysis / Q000235:genetics / Q000378:metabolism; D015153:Blotting, Western / Q000379:methods; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005091:Exons; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D051757:PAX5 Transcription Factor / Q000032:analysis / Q000235:genetics* / Q000378:metabolism; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics* / Q000378:metabolism; D012333:RNA, Messenger / Q000032:analysis
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C113939:B cell linker protein; D051757:PAX5 Transcription Factor; D012333:RNA, Messenger