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| 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
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| 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.
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| Overall design |
Examination of Sap130 targets in a mouse heart from E12.5, with 1 Sap130-antibody ChIP and 1 Input control.
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| Contributor(s) |
Yagi H, Bais AS, Lo CW |
| Citation(s) |
28530678 |
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| Submission date |
Feb 09, 2016 |
| Last update date |
May 15, 2019 |
| Contact name |
Cecilia W Lo |
| E-mail(s) |
cel36@pitt.edu
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| Organization name |
University of Pittsburgh
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| Department |
Developmental Biology
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| Street address |
530 45th St., 8120 Rangos Research Center
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| City |
Pittsburgh |
| State/province |
PA |
| ZIP/Postal code |
15201 |
| Country |
USA |
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| Platforms (1) |
| GPL21103 |
Illumina HiSeq 4000 (Mus musculus) |
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| Samples (2) |
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| This SubSeries is part of SuperSeries: |
| GSE77799 |
The complex genetics of hypoplastic left heart syndrome |
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| Relations |
| BioProject |
PRJNA311338 |
| SRA |
SRP069832 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE77746_RAW.tar |
591.0 Mb |
(http)(custom) |
TAR (of BED, TAR) |
SRA Run Selector |
| Raw data are available in SRA |
| Processed data provided as supplementary file |
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