Downloaded from molecularcasestudies.cshlp.org on October 1, 2021 - Published by Cold Spring Harbor Laboratory Press Pathogenic germline IKZF1 variant alters hematopoietic gene expression profiles Seth A. Brodie1, #, Payal P. Khincha2, #, Neelam Giri2, Aaron J. Bouk1, Mia Steinberg1, Jieqiong Dai1, Lea Jessop3 Frank X. Donovan4, Settara C. Chandrasekharappa4, Kelvin C. de Andrade2, Irina Maric5, Steven R. Ellis6, Lisa Mirabello2, Blanche P. Alter2, Sharon A. Savage2* 1 Cancer Genomics Research Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, MD 20850, USA; 2 Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA; 3 Laboratory of Genetic Susceptibility, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda 20892, USA; 4 Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA; 5 Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, Maryland 20892, USA; 6 Department of Biochemistry and Molecular Biology, University of Louisville, Louisville, KY 40292, USA #These authors contributed equally. *Corresponding Author Sharon A. Savage, M.D. Clinical Genetics Branch Division of Cancer Epidemiology and Genetics National Cancer Institute, 9609 Medical Center Dr., Rm. 6E454 Bethesda, MD 20892 Tel: 240- 276-7241 Email:
[email protected] Short title: Germline IKZF1 variant dysregulates hematopoiesis Word Counts: Abstract 189 References: 53 Figures: 5 Tables: 1 Supplementary Figures: 7 Supplementary Tables: 5 1 Downloaded from molecularcasestudies.cshlp.org on October 1, 2021 - Published by Cold Spring Harbor Laboratory Press ABSTRACT IKZF1 encodes Ikaros, a zinc-finger containing transcription factor crucial to the development of the hematopoietic system.