My laboratory is analyzing the genetic consequences of the recurring chromosome abnormalities seen in human leukemia cells. We have cloned several new genes at translocation breakpoints and are investigating how the chromosome rearrangements alter the structure of the genes and how this in turn alters the structure and function of the proteins. Many of the genes at these breakpoints are transcription factors, and thus the identification of the genes regulated by these proteins will be important. In addition, we are also mapping the region of chromsome deletions to identify the involved genes; these will most likely be tumor suppressor genes. These studies are carried out using not only molecular genetic techniques but also chromosome microdissection and fluorescence in situ hybridization of the appropriate probes to normal metaphase chromosomes and interphase cells as well as to cells from leukemia patients treated at the University of Chicago Medical Center.

Selected Publications

Thirman MJ, Gill HJ, Burnett RC, Mbangkollo D, McCabe NR, Kobayashi H, Ziemin-van der Poel S, Kaneko Y, Morgan R, Sandberg AA, Chaganti RSK, Larson RA, Le Beau MM, Diaz MO, Rowley JD (1993) A cDNA probe detects all rearrangements of the MLL gene in leukemias with common and rare 11q23 translocations. New Engl J Med 329:909-914.

Rowley JD (1994) Rearrangements involving chromosome band 11q23 in acute leukemia. Sem Canc Biol 4:377-385.

Pedersen-Bjergaard J, Rowley JD (1994) The balanced and the unbalanced chromsome aberrations of acute myeloid leukemia may develop in different ways and may contribute differently to malignant transformation. Blood 83:2780-2786.

Nucifora G, Begy CR, Kobayashi H, Roulston D, Claxton D, Pedersen-Bjergaard J, Parganas E, Ihle JN, Rowley JD (1994) Consistent intergenic splicing and production of multiple transcripts between AML1 at 21q22 and unrelated genes at 3q26 in (3;21)(q26;q22) translocations. Proc Natl Acad Sci USA 91:4004-4008.