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A tissue-specific gene expression template portrays heart development and pathology

Amy Rodemoyer1, Nataliya Kibiryeva23, Alexis Bair23, Jennifer Marshall23, James E O’Brien23 and Douglas C Bittel23*

Author Affiliations

1 Kansas City University of Medicine and Biosciences, Kansas, MO 64106, USA

2 The Ward Family Heart Center, Children's Mercy Hospitals and Clinics, Kansas City, MO 64108, USA

3 University of Missouri-Kansas City School of Medicine, 5100 Rockhill Rd, Kansas City, MO 64110, USA

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Human Genomics 2014, 8:6  doi:10.1186/1479-7364-8-6

Published: 11 March 2014


Congenital heart defects (CHD) are the most common cause of death in children under the age of 1. Tetralogy of Fallot (TOF) is a severe CHD that results from developmental defects in the conotruncal outflow tract. Recently, a tissue-specific gene expression template (GET) was derived from microarray data that accurately characterized multiple normal human tissues. We used the GET to examine spatial, temporal, and a pathological condition (TOF) within a single organ, the heart. The GET, as previously defined, generally identified temporal and spatial differences in the cardiac tissue. Differences in the stoichiometry of the GET reflected the severe developmental disturbance associated with TOF. Our analysis suggests that the homoeostatic equilibrium assessed by the GET at the inter-organ level is generally maintained at the intra-organ level as well.

Gene expression template; Congenital heart defect; Tetralogy of Fallot