A RAG driver on the road to pediatric ALL

Roland P Kuiper; Esmé Waanders

doi:10.1038/ng.2879

A RAG driver on the road to pediatric ALL

Nat Genet. 2014 Feb;46(2):96-8. doi: 10.1038/ng.2879.

Authors

Roland P Kuiper¹, Esmé Waanders¹

Affiliation

¹ Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands, and with the Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.

PMID: 24473322
DOI: 10.1038/ng.2879

Abstract

Genomic aberrations affecting genes in B cell differentiation are hallmarks of B-precursor acute lymphoblastic leukemia (ALL). A new whole-genome sequencing study of ETV6-RUNX1-positive ALL has now identified RAG-mediated recombination, which specifically targets genes and regulatory elements active during B cell differentiation, as the underlying mechanism.

Publication types

Comment

MeSH terms

Core Binding Factor Alpha 2 Subunit / genetics*
Gene Expression Regulation, Neoplastic / genetics*
Gene Rearrangement / genetics*
Genetic Variation*
Homeodomain Proteins / genetics*
Humans
Oncogene Proteins, Fusion / genetics*
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / genetics*
Recombination, Genetic / genetics*

Substances

Core Binding Factor Alpha 2 Subunit
Homeodomain Proteins
Oncogene Proteins, Fusion
TEL-AML1 fusion protein
RAG-1 protein