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Series GSE77746 Query DataSets for GSE77746
Status Public on Apr 13, 2017
Title Sap130 ChIP-seq on Mouse E12.5 heart
Organism Mus musculus
Experiment type Genome binding/occupancy profiling by high throughput sequencing
Summary Congenital heart disease (CHD) is a prevalent birth defect affecting up to 1% of live births. While a genetic etiology is indicated by increased recurrence risk and association with chromosomal abnormalities, the genetics of CHD is poorly understood and likely complex. Here we show hypoplastic left heart syndrome (HLHS), a severe CHD with high morbidity/mortality, has a multigenic etiology. Analysis of 8 HLHS mutant mouse lines recovered from a large-scale mutagenesis screen showed no mutations are shared in common. In the *Ohia* mouse line, mutations in 2 genes, *Pcdha9*/*Sap130*, act synergistically to cause HLHS. Cardiomyocyte proliferation and differentiation defects likely act in concert with valve abnormalities to cause HLHS. Network analysis of mutations recovered in HLHS mice and 68 HLHS patients point to Notch signaling disruption, a pathway previously implicated in HLHS. These findings demonstrate large-scale mutagenesis is an effective systems approach for interrogating the complex genetics of human diseases.
Overall design Examination of Sap130 targets in a mouse heart from E12.5, with 1 Sap130-antibody ChIP and 1 Input control.
Contributor(s) Yagi H, Bais AS, Lo CW
Citation(s) 28530678
Submission date Feb 09, 2016
Last update date May 15, 2019
Contact name Cecilia W Lo
Organization name University of Pittsburgh
Department Developmental Biology
Street address 530 45th St., 8120 Rangos Research Center
City Pittsburgh
State/province PA
ZIP/Postal code 15201
Country USA
Platforms (1)
GPL21103 Illumina HiSeq 4000 (Mus musculus)
Samples (2)
GSM2058466 Sap130_ChIPSeq
GSM2058467 Input DNA
This SubSeries is part of SuperSeries:
GSE77799 The complex genetics of hypoplastic left heart syndrome
BioProject PRJNA311338
SRA SRP069832

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Supplementary file Size Download File type/resource
GSE77746_RAW.tar 591.0 Mb (http)(custom) TAR (of BED, TAR)
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Raw data are available in SRA
Processed data provided as supplementary file

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