Identification and characterization of OSTL (RNF217) encoding a RING-IBR-RING protein adjacent to a translocation breakpoint involving ETV6 in childhood ALL

• DOI: 10.1038/srep06565
• Publication Date: 2014-10-09T09:06:00Z
• Authors: Luciana M. Fontan...; Anna Sophia Japp; Alexandre Krause; Jana Mooster; Martin Chopra; Markus Müschen; Stefan K. Bohlander
• Keywords: Breakpoint; ETV6

Genomic aberrations involving ETV6 on band 12p13 are amongst the most common chromosomal abnormalities in human leukemia. The translocation t(6;12)(q23;13) a childhood B-cell acute lymphoblastic leukemia (ALL) cell line fuses with putative long non-coding RNA gene STL. Linking STL properties to has so far been difficult. Here, we describe novel gene, OSTL (annotated as RNF217 Genbank), which shares first exon and CpG island but is transcribed opposite direction. Human codes for highly conserved RING finger protein mainly expressed testis skeletal muscle different splice variants. shows regulated splicing B development number of lines, primary chronic myeloid leukemia, normal karyotype T-ALL samples. Using yeast two-hybrid screen, identified anti-apoptotic HAX1 interact RNF217. This interaction could be mapped C-terminal motif We propose that some recurring 6q might deregulate expression result imbalanced apoptosis signalling via HAX1, promoting development.