Haploinsufficiency of the cardiac transcription factor Nkx2-5 variably affects the expression of putative target genes Patrick Y. Jay * ,1 , Olga Rozhitskaya †3 , Oleg Tarnavski †3 , Megan C. Sherwood † , Adam L. Dorfman † , Yali Lu * , Tomomi Ueyama ‡ and Seigo Izumo § , 2 * Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA; † Department of Cardiology, Children’s Hospital, Boston, Massachusetts, USA; ‡ Cardiology Division, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA; and § Department of Experimental Therapeutics, Translational Research Center, Kyoto University School of Medicine, Kyoto, Japan 1 Correspondence: Washington University School of Medicine, Departments of Pediatrics and Genetics, 660 S. Euclid Ave., Box 8208, St. Louis, MO 63110, USA. E-mail: jay_p@kids.wustl.edu <h3>SPECIFIC AIMS</h3> Heterozygous mutations of transcription factors cause a number of known human diseases, including cancer, birth defects, and syndromes. The identification of genes that are "direct" transcriptional targets is necessary to elucidate the molecular pathogenesis. Two forms of evidence are commonly offered to prove that a transcription factor directly regulates a gene. First, the suspected target must be abnormally expressed in a cell or tissue depleted of the factor, as in
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Haploinsufficiency of the cardiac transcription factor Nkx2-5 variably affects the expression of putative target genes
Jay, Patrick Y.; Rozhitskaya, Olga; Tarnavski, Oleg; Sherwood, Megan C.; Dorfman, Adam L.; Lu, Yali; Ueyama, Tomomi; Izumo, Seigo
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, Volume 19 (11): 1495
Fed of American Socs for Experimental Biology – Sep 1, 2005
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