Characterization of chromosomal translocations in mouse models of hematological malignancies using spectral karyotyping, fish, and immunocytochemistry

Abstract

Model systems for cancer have long been used to study patterns, mechanisms, and consequences of chromosomal translocations. The first consistent translocation observed in mouse models, however, was the identification of recurrent exchanges between murine plasma cell tumors, which eventually led to the paradigm of translocation-induced activation of oncogenes in hematologic malignancies. In this chapter, we first provide a brief historical overview on the use of mouse models, then elucidate how technological development of cytogenetic techniques (chromosome banding) and molecular cytogenetic techniques (FISH and SKY) helped to arrive at a comprehensive view of chromosomal aberrations and patterns of aneuploidy. We provide an overview of mouse models analyzed with molecular cytogenetic techniques, and, lastly, describe how critical these advanced techniques have been to understand the mechanisms of the complex interplay of DNA double strand breaks and their repair for the maintenance of genomic instability.