Abstract 11332: Integration of Protein Interactome Networks with Congenital Heart Disease Variants Reveals Candidate Disease Genes

Authors: Barbara Gonzalez Teran, Maureen Pittman, Reuben Thomas, Franco Felix, Desmond Richmond-Buccola, Krishna Choudhary, Elisabetta Moroni, Colombo Giorgio, Arun Padmanabhan, Mauro Costa, Yu Huang, Michael Alexanian, Clara Lee, Bonie Cole, Kaitlen Samse-Knapp, Michael McGregor, Casey Gifford, Ruth Huttenhain, Bruce Gelb, Bruce Conklin, Brian L Black, Benoit Bruneau, Nevan Krogan, Katherine Pollard, Deepak Srivastava

Published: 2022-03-19

DOI: 10.1161/circ.144.suppl_1.11332

Source: Full article


Abstract

Congenital heart disease (CHD) is present in 1% of live births, yet despite large-scale genomic sequencing efforts, identification of causal mutations remains a challenge. We hypothesized that genetic determinants for CHDs may lie in the protein interactomes of GATA4 and TBX5, two transcription factors whose mutation cause CHDs. Defining the GATA4 or TBX5 interactomes in human cardiac progenitors via affinity purification-mass spectrometry and integrating the results with genetic data from the