Genes Regulating B Cell Development are Mutated in Acute Lymphoid Leukaemia

Dr. Stanley Pounds

In this paper, we used SNP microarrays to identify previously unknown lesions of B-cell development genes in acute lymphoid leukaemia (ALL). I developed a reference normalization algorithm that aligned the SNP microarray signals so that comparisons of tumor profiles to reference profiles are representative of the true underlying biology. The signal comparisons based on data normalized by standard methods were severely biased; thus the reference normalization algorithm proved critical to the success of this project. The reference normalization algorithm is now routinely used in the processing of SNP microarray signals across the institution.

This article appears in Nature 2007. Other co-first authors include Charles Mullighan (St. Jude-Pathology),Salil Goorha (St. Jude-Pathology), Ina Radtke (St. Jude-Pathology), Christopher Miller (St. Jude-Pathology), Elaine Coustan-Smith (St. Jude-Oncology), James Dalton (St. Jude-Pathology), Kevin Girtman (St.Jude-Pathology), Susan Mathew (St. Jude-Pathology), Jing Ma (St. Jude-Hartwell Center), Xiaoping Su (St. Jude-Hartwell Center), Ching-Hon Pui (St. Jude-Oncology), Mary Relling (St. Jude-Pharmaceutical Sciences), William Evans (St. Jude-Pharmaceutical Sciences), Shelia Shurtleff (St. Jude-Pathology), and James Downing (St. Jude-Pathology).

Full Citation

Mullighan CG, Goorha S, Radtke I, Miller CB, Coustan-Smith E, Dalton JD, Girtman K, Mathew S, Ma J, Pounds SB, Su X, Pui CH, Relling MV, Evans WE,Shurtleff SA, Downing JR. Genome-wide analysis of genetic alterations in acute lymphoblastic leukaemia. Nature 446(7137):758-64, 2007. PubMed Abstract
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