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.
Publication types
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Adaptor Proteins, Signal Transducing / analysis
-
Adaptor Proteins, Signal Transducing / genetics
-
Adaptor Proteins, Signal Transducing / metabolism
-
Blotting, Western / methods
-
Case-Control Studies
-
Child
-
Child, Preschool
-
Exons
-
Gene Deletion
-
Humans
-
Infant
-
Infant, Newborn
-
PAX5 Transcription Factor / analysis
-
PAX5 Transcription Factor / genetics*
-
PAX5 Transcription Factor / metabolism
-
Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics*
-
Precursor Cell Lymphoblastic Leukemia-Lymphoma / metabolism
-
RNA, Messenger / analysis
Substances
-
Adaptor Proteins, Signal Transducing
-
B cell linker protein
-
PAX5 Transcription Factor
-
RNA, Messenger